Hiperoksaluria i oksaloza
Objawy

Hiperoksaluria to stan charakteryzujący się podwyższonym wydalaniem szczawianu z moczem, prowadzącym do nawracających kamieni nerkowych, nefrokalcynozy oraz przewlekłej choroby nerek, która może progresować do schyłkowej niewydolności nerek (ESRD). Wyróżnia się pierwotne typy hiperoksalurii (PH1, PH2, PH3) oraz wtórną hiperoksalurię jelitową. PH1, spowodowana mutacją w genie AGXT, cechuje się najcięższym przebiegiem, z wydalaniem szczawianu zwykle >100 mg/dzień i wysokim ryzykiem ESRD (>70% pacjentów), często już w młodym wieku (średni wiek pojawienia się objawów to 5 lat). PH2 i PH3 mają łagodniejszy przebieg, z niższym wydalaniem szczawianu i mniejszym ryzykiem niewydolności nerek. W hiperoksalurii jelitowej obserwuje się bardzo wysokie wydalanie szczawianu (zwykle ≥80 mg/dzień) oraz hipokalciurię (<100 mg/dzień). Niewydolność nerek prowadzi do oksalozy systemowej, czyli odkładania się kryształów szczawianu w wielu narządach (kości, serce, oczy, skóra), co powoduje poważne powikłania wielonarządowe, w tym anemia, neuropatie, retinopatię i zaburzenia rytmu serca.

Objawy hiperoksalurii

Hiperoksaluria to stan charakteryzujący się podwyższonym poziomem szczawianu w moczu. Najbardziej charakterystycznym i często pierwszym objawem hiperoksalurii jest tworzenie się kamieni nerkowych12. Objawy związane z kamieniami nerkowymi mogą obejmować:

  • Ostry ból w plecach, boku, dolnej części brzucha lub pachwinie12
  • Mocz zabarwiony na różowo, czerwono lub brązowo z powodu krwi (krwiomocz)12
  • Częste parcie na mocz1
  • Ból podczas oddawania moczu12
  • Niemożność oddania moczu lub oddawanie niewielkich ilości moczu1
  • Dreszcze, gorączka, nudności lub wymioty12
  • Nawracające zakażenia układu moczowego1

Objawy hiperoksalurii mogą się pojawić w dowolnym wieku, od niemowlęctwa do dorosłości. Średni wiek pojawienia się objawów to 5 lat1. Osoby z pierwotną hiperoksalurią często doświadczają nawracających kamieni nerkowych już w dzieciństwie lub okresie nastoletnim, zwykle przed 20. rokiem życia1.

Zaawansowane stadia choroby

Bez odpowiedniego leczenia hiperoksaluria może prowadzić do uszkodzenia nerek i ostatecznie do ich niewydolności12. Objawy niewydolności nerek obejmują:

  • Zmniejszoną ilość oddawanego moczu lub całkowity brak produkcji moczu12
  • Uczucie choroby i zmęczenia12
  • Brak apetytu12
  • Nudności i wymioty12
  • Bladość skóry, szarość lub inne zmiany koloru skóry związane z anemią12
  • Obrzęk dłoni i stóp12

W przypadku niemowląt z ciężką postacią pierwotnej hiperoksalurii typu 1 (PH1) choroba może objawiać się opóźnionym wzrostem (failure to thrive) i poważnymi problemami rozwojowymi1. Około 50% dzieci z taką postacią choroby rozwinie niewydolność nerek do 15. roku życia, a 80% do 30. roku życia1.

Oksaloza i jej objawy systemowe

Oksaloza to stan, który występuje, gdy nerki przestają prawidłowo funkcjonować u osób z pierwotną lub jelitową hiperoksalurią12. Organizm nie jest już w stanie usuwać nadmiaru szczawianów, które zaczynają się gromadzić. Najpierw gromadzą się we krwi, a następnie w różnych narządach i tkankach, takich jak oczy, kości, skóra, mięśnie, naczynia krwionośne, serce i inne12.

Oksaloza w swoich późnych stadiach może powodować różnorodne problemy zdrowotne poza nerkami12, w tym:

  • Choroby kości – w tym ból kości, złamania, nieprawidłowa twardość i gęstość kości, problemy stomatologiczne (ból zębów, obluzowane zęby)12
  • Anemia – trudna do leczenia, wynikająca z odkładania się kryształów szczawianu w szpiku kostnym12
  • Owrzodzenia skóry – purpurowe plamy na skórze, wysypki, zmiany martwicze na dłoniach lub stopach12
  • Problemy z sercem – zaburzenia rytmu serca, zwolnienie akcji serca (blok serca), zapalenie tkanki sercowej12
  • Problemy z oczami – uszkodzenie nerwu wzrokowego (zanik nerwu wzrokowego), retinopatia, zaburzenia widzenia12
  • Problemy neurologiczne – bolesne stany nerwów (neuropatia obwodowa), udar1
  • Zaburzenia naczyniowe – zwężenie naczyń krwionośnych12
  • U dzieci – poważne problemy z rozwojem i wzrostem12

Objawy w różnych typach hiperoksalurii

Objawy i przebieg choroby mogą różnić się w zależności od typu hiperoksalurii12:

  • Pierwotna hiperoksaluria typu 1 (PH1) – najcięższa postać, charakteryzująca się szybszym postępem do dysfunkcji nerek i rozwojem schyłkowej niewydolności nerek u połowy pacjentów w młodym wieku dorosłym1. Kamienie nerkowe pojawiają się zwykle między dzieciństwem a wczesną dorosłością1.
  • Pierwotna hiperoksaluria typu 2 (PH2) – przebieg jest łagodniejszy niż w przypadku PH1, ale pacjenci nadal mają znaczne ryzyko rozwoju kamieni nerkowych i innych powikłań1. Niewydolność nerek rozwija się później niż w PH11.
  • Pierwotna hiperoksaluria typu 3 (PH3) – najłagodniejsza postać, z wcześniejszym początkiem niż w typach 1 i 2, ale wolniejszym spadkiem funkcji nerek1. Chorzy często rozwijają kamienie nerkowe we wczesnym dzieciństwie1.
  • Hiperoksaluria jelitowa (wtórna) – charakteryzuje się bardzo wysokim poziomem szczawianu w moczu (zwykle 80 mg/dzień lub więcej) i hipokalciurią, z wydalaniem wapnia z moczem zwykle poniżej 100 mg/dzień1. Głównym narządem dotkniętym w hiperoksalurii wtórnej są nerki, które mogą ulec uszkodzeniu z powodu nefrokalcynoza/” title=”nefrokalcynoza” class=”to-tag” data-termid=”43219″>nefrokalcynozy lub kamicy nerkowej1.

Przebieg choroby i progresja

Hiperoksaluria jest chorobą charakteryzującą się zwiększonym wydalaniem szczawianu z moczem. Spektrum choroby obejmuje nawracające kamienie nerkowe, nefrokalcynozę i zakażenia dróg moczowych, które mogą prowadzić do przewlekłej choroby nerek i schyłkowej niewydolności nerek1. Kiedy obciążenie szczawianem wapnia przekracza zdolność wydalniczą nerek, szczawian wapnia zaczyna odkładać się w różnych narządach w procesie zwanym oksalozą systemową1.

Progresja w pierwotnej hiperoksalurii

Przebieg pierwotnej hiperoksalurii jest nieprzewidywalny i może przebiegać z różną szybkością u różnych osób, nawet w tej samej rodzinie1. Ogólnie rzecz biorąc, choroba charakteryzuje się nawracającą kamicą nerkową i postępującą nefrokalcynozą, prowadzącą do uszkodzenia nerek1.

W rezultacie większość pacjentów osiąga schyłkową niewydolność nerek (ESRD) w 3-5 dekadzie życia1. Kamienie nerkowe w pierwotnej hiperoksalurii są zazwyczaj ciężkie, powodując stosunkowo wczesne uszkodzenie nerek (w wieku nastoletnim do wczesnej dorosłości), co upośledza wydalanie szczawianu, prowadząc do dalszego przyspieszenia gromadzenia się szczawianu w organizmie1.

Progresja choroby nerek jest różna i może trwać od miesięcy do lat. Może wystąpić nagle po ostrym epizodzie odwodnienia, niedrożności spowodowanej kamieniem lub operacji kamienia1. W niektórych przypadkach funkcja nerek może ulec pogorszeniu po pojedynczym incydencie odwodnienia spowodowanym ostrą chorobą lub intensywną aktywnością fizyczną1.

Przebieg w różnych typach hiperoksalurii

Przebieg choroby różni się w zależności od typu hiperoksalurii12:

  • W PH1 niewydolność nerek rozwija się u ponad 70% pacjentów w miarę upływu czasu1. Schyłkowa niewydolność nerek zazwyczaj pojawia się u pacjentów między trzecią a piątą dekadą życia1. Jednakże u około 80% pacjentów z wczesnym początkiem schyłkowa niewydolność nerek zostanie zdiagnozowana do 3. roku życia1.
  • W PH2 przebieg jest łagodniejszy, z lepszym zachowaniem funkcji nerek i niższą częstością występowania schyłkowej niewydolności nerek oraz mniej nasilonej nefrokalcynozy w porównaniu z PH11. Około 25-50% osób z typem 2 progresuje do niewydolności nerek1.
  • W PH3 początek objawów występuje w młodszym wieku niż w typach 1 i 2, ale spadek funkcji nerek jest wolniejszy1. Progresja do przewlekłej choroby nerek w stadium 3 lub gorszym występuje u 5,4%-13,9% pacjentów, a schyłkowa niewydolność nerek jest rzadko zgłaszana1.

Nefrokalcynoza i niewydolność nerek

Nefrokalcynoza jest również związana z ryzykiem niewydolności nerek u pacjentów z pierwotną hiperoksalurią1. We wszystkich typach pierwotnej hiperoksalurii mocz staje się przesycony, co prowadzi do tworzenia się kryształów szczawianu wapnia, które gromadzą się w świetle kanalików1.

Trwale podwyższony poziom szczawianu w moczu powoduje tworzenie się kamieni nerkowych i przyczynia się do postępującego uszkodzenia nerek oraz utraty funkcji nerek1. Dane epidemiologiczne pokazują silny związek między szczawianem w moczu a długoterminową utratą funkcji nerek1.

Połączenie śródkanalikowych i śródmiąższowych złogów szczawianu wapnia, przewlekłego zapalenia śródmiąższowego kanalików i niedrożności nerek spowodowanej kamieniami prowadzi do niewydolności nerek u ponad 70% pacjentów1.

Oksaloza systemowa

Gdy wskaźnik filtracji kłębuszkowej (GFR) spada poniżej 30-40 ml/min/1,73 m², produkcja szczawianu w wątrobie przekracza jego usuwanie przez nerki, prowadząc do odkładania się szczawianu w różnych tkankach, w tym w kościach, sercu, naczyniach, nerwach i oku, powodując zagrażającą życiu chorobę wielonarządową1.

Gdy funkcja nerek pogarsza się, nerki nie są już w stanie prawidłowo usuwać szczawianu, który zaczyna się rozprzestrzeniać i tworzyć kryształy w całym organizmie w procesie zwanym oksalozą systemową1. Kryształy powodują uszkodzenia w miejscach, w których się odkładają. Może to nastąpić w wielu narządach w organizmie, w tym w kościach, oczach, skórze i sercu1.

U pacjentów z pierwotną hiperoksalurią, którzy mają niewydolność nerek, dializa nie może usunąć wystarczającej ilości szczawianu, aby zapobiec postępującej oksalozie systemowej, a przeszczep nerki sam w sobie często zawodzi z powodu nawracającego uszkodzenia szczawianem w przeszczepie1.

Konsekwencje systemowej oksalozy

Po rozwoju niewydolności nerek pacjenci mogą mieć złogi szczawianu w kościach, stawach i szpiku kostnym. Ciężkie przypadki mogą rozwinąć problemy hematologiczne, takie jak anemia i małopłytkowość1. Odkładanie się szczawianu w organizmie jest czasami nazywane „oksalozą” w odróżnieniu od „szczawianomoczu”, który odnosi się do szczawianu w moczu1.

Jednym z pierwszych wyraźnych objawów oksaloza-systemowa/” title=”oksaloza systemowa” class=”to-tag” data-termid=”101520″>oksalozy systemowej są złogi w siatkówce1. Późne powikłania oksalozy mogą obejmować12:

  • Niedokrwienie obwodowe prowadzące do zmian martwiczych
  • Polineuropatię
  • Objaw Raynauda
  • Siność marmurkowatą
  • Akrocjanozę
  • Skurcze dużych tętnic
  • Zgorzel i chromanie przestankowe
  • Postępującą utratę wzroku z powodu krystalicznej retinopatii

Diagnoza i wczesne wykrywanie

Wczesna diagnoza jest kluczowa dla odpowiedniego leczenia hiperoksalurii1. Ważne jest, aby zrozumieć i rozpoznać kluczowe objawy i symptomy, które mogą obejmować1:

  • Przewlekłą chorobę nerek o nieznanej etiologii
  • Nefrokalcynozę
  • Oksalozę systemową
  • Ciężką postać niemowlęcą: zaburzenia rozwoju, schyłkową niewydolność nerek, poważne nieprawidłowości siatkówki
  • Podwyższony poziom szczawianu w moczu

Pojedynczy kamień nerkowy u dzieci lub nawracające kamienie nerkowe u dorosłych powinny wzbudzić podejrzenie pierwotnej hiperoksalurii1. Wiele osób jest bezobjawowych przez lata, z 18% osób z pierwotną hiperoksalurią typu 1 diagnozowanych poprzez badania przesiewowe w rodzinie, zanim pojawią się jakiekolwiek objawy1.

U dzieci nie powinny rozwijać się kamienie pęcherza moczowego lub kamienie nerkowe, a obecność nawet pojedynczego kamienia nerkowego u niemowlęcia lub dziecka powinna natychmiast wzbudzić podejrzenie schorzenia genetycznego, takiego jak pierwotna hiperoksaluria1.

Badania wykazały, że wiele osób nie jest diagnozowanych w kierunku pierwotnej hiperoksalurii, dopóki nie znajdą się w stadium ESRD (35% wszystkich pacjentów z PH1 i 11% pacjentów z PH2), chociaż ci pacjenci często mieli wcześniejsze objawy, które pozostały nierozpoznane, takie jak nawracające kamienie nerkowe. 59% do 70% osób zdiagnozowanych z PH1 w wieku dorosłym znajduje się w ESRD w momencie diagnozy1.

Znaczenie wczesnej diagnozy

Hiperoksaluria ma potencjał do powodowania niszczących konsekwencji, które mogą pojawić się już w niemowlęctwie lub w szóstej dekadzie życia, a jeśli nie zostanie odpowiednio rozpoznana, może powodować znaczącą zachorowalność i śmiertelność, w tym schyłkową niewydolność nerek (ESRD)1.

Wczesna i dokładna diagnoza, a następnie agresywne leczenie wspomagające, odgrywają znaczącą rolę zarówno w krótko-, jak i długoterminowych wynikach1. Biorąc pod uwagę charakter tej choroby, PH1 może pozostać niezdiagnozowana przez wiele lat. Wczesne objawy u dorosłych, takie jak kamienie nerkowe, są często przypisywane innym, znacznie częstszym stanom1.

Jeśli pierwotna hiperoksaluria nie jest leczona, prowadzi do postępującej niewydolności nerek, co skutkuje śmiercią1. Oczekiwana długość życia jest niezwykle niska, jeśli pierwotna hiperoksaluria typu 1 (PH1) nie jest leczona1.

Różnice między typami hiperoksalurii

Typy pierwotnej hiperoksalurii różnią się pod względem przyczyn, nasilenia objawów i prognozy123:

Cecha PH1 PH2 PH3 Hiperoksaluria jelitowa
Defekt genetyczny Gen AGXT (brak enzymu alanino-glioksylanowej aminotransferazy) Gen GRHPR (brak enzymu reduktazy glioksylanu/hydroksypyruwianu) Gen HOGA1 Nabyta, nie genetyczna
Wydalanie szczawianu z moczem Typowo >100 mg/dzień Podwyższone, ale niższe niż w PH1 Najniższe z pierwotnych hiperoksalurii Zwykle 80 mg/dzień lub więcej
Wiek wystąpienia objawów Od niemowlęctwa do dorosłości Zwykle później niż PH1 Najwcześniejszy początek z trzech typów Różny, zależny od choroby podstawowej
Ryzyko rozwoju niewydolności nerek Bardzo wysokie (>70% pacjentów) Umiarkowane (25-50% pacjentów) Niskie (5-14% pacjentów) Do 50% przypadków
Oksaloza systemowa Częsta Rzadsza niż w PH1 Bardzo rzadka Rzadka, raportowana w ciężkich przypadkach choroby Crohna
Nasilenie objawów Najcięższe Umiarkowane Najłagodniejsze Zależne od choroby podstawowej

Różnice są spowodowane wyższym wydalaniem szczawianu w PH1 i zmienioną kompozycją moczu ze zmniejszonym poziomem cytrynianów i magnezu w moczu w PH1 w porównaniu z PH21.

Postać niemowlęca i wczesno-dziecięca

Około 10% pacjentów z PH1 ma pierwsze objawy między niemowlęctwem a wczesnym dzieciństwem. Ten typ, zwany niemowlęcą PH1, może być poważny1. Rodzice mogą zauważyć, że ich dziecko jest zbyt małe pod względem wzrostu i wagi jak na swój wiek. Jest to nazywane brakiem prawidłowego rozwoju (failure to thrive)1.

W badaniu wykazano, że początek niemowlęcy występował u 18% pacjentów z PH1. Niemowlęta z tą ciężką postacią mają schyłkową chorobę nerek, zaburzenia rozwoju, poważne nieprawidłowości siatkówki i utratę wzroku w pierwszym roku życia1.

Niewydolność nerek spowodowana przez PH1 przed ukończeniem 1. roku życia jest również znana jako oksaloza niemowlęca1. W tych ciężkich przypadkach można zauważyć, że dziecko jest bardzo słabe i/lub zbyt małe pod względem wzrostu i wagi lub wykazuje oznaki niewydolności nerek1.

Innym wczesnym objawem PH1 u niemowląt i bardzo małych dzieci są bolesne kamienie w nerkach, pęcherzu moczowym lub cewkach moczowych1. Niemowlęta i małe dzieci z PH1 mogą również mieć stopniowe uszkodzenie nerek z powodu nagromadzenia kryształów szczawianu. W miarę pogarszania się tego uszkodzenia może dojść do niewydolności nerek1.

Hiperoksaluria u dzieci i nastolatków

Większość osób z PH1 ma pierwsze objawy jako dzieci lub nastolatki. Te dzieci mogą często mieć kamienie nerkowe lub kamienie w drogach moczowych1. Dzieci i nastolatki z PH1 mogą mieć uszkodzenie nerek, które z czasem się pogarsza. Czasami może to prowadzić do niewydolności nerek1.

Pierwotna hiperoksaluria typu 1 jest chorobą ciężką, postępującą i potencjalnie śmiertelną. PH1 może powodować znaczące problemy nerkowe1. Osoby z zaawansowaną chorobą nerek mogą wymagać intensywnej dializy, aby pomóc w filtrowaniu produktów odpadowych, w tym szczawianu, z krwi i mogą wymagać przeszczepu nerki lub równoczesnego przeszczepu wątroby i nerki, inwazyjnej procedury związanej z wysokim ryzykiem powikłań i dożywotniej immunosupresji1.

Hiperoksaluria u dorosłych

Niektóre osoby nie mają żadnych objawów PH1, dopóki nie staną się dorosłymi, nawet tak późno jak w wieku 50 lat. Mogą mieć powtarzające się kamienie nerkowe. Jeśli kamień powoduje blokadę, mogą mieć niewydolność nerek1.

Gdy objawy PH1 po raz pierwszy pojawiają się w wieku dorosłym, uważa się to za łagodniejszą formę choroby. Jednak aż połowa dorosłych z PH1 ma chorobę nerek lub niewydolność nerek1.

Osoby z pierwotną PH1 mogą mieć poważne powikłania, jeśli nie są leczone. Wraz z postępem choroby może rozwinąć się niewydolność nerek1.

Pacjenci obawiają się progresji do oksalozy i martwią się związanymi z nią złamaniami kości, anemią, niewydolnością serca, uszkodzeniem stawów, owrzodzeniem skóry, ciężkim osłabieniem, upośledzeniem widzenia i neuropatią1.

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  1. 14.04.2026
  2. www.leksykon.com.pl

Materiały źródłowe

  • #1 Hyperoxaluria and oxalosis – Symptoms and causes – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/hyperoxaluria/symptoms-causes/syc-20352254
    Hyperoxaluria can be caused by a change in a gene, an intestine disease or eating too many foods that are high in oxalate. […] The long-term health of your kidneys depends on finding hyperoxaluria early and getting it treated quickly. […] Oxalosis happens after the kidneys stop working well in people who have primary and intestine-related causes of hyperoxaluria. […] Too much oxalate collects in the blood. This can lead to oxalate buildups in blood vessels, bones and organs. […] Often, the first sign of hyperoxaluria is a kidney stone. […] Kidney stone symptoms can include: Sharp pain in the back, side, lower stomach area or groin. […] Urine that looks pink, red or brown due to blood. […] Frequent urge to pee, also called urination. […] Pain when peeing. […] Not being able to urinate or peeing only a small amount.
  • #1 Hyperoxaluria and oxalosis | Altru Health System
    https://www.altru.org/health-library/conditions/hyperoxaluria-and-oxalosis
    Hyperoxaluria can be caused by a change in a gene, an intestine disease or eating too many foods that are high in oxalate. […] Oxalosis happens after the kidneys stop working well in people who have primary and intestine-related causes of hyperoxaluria. Too much oxalate collects in the blood. This can lead to oxalate buildups in blood vessels, bones and organs. […] Often, the first sign of hyperoxaluria is a kidney stone. Kidney stone symptoms can include: Sharp pain in the back, side, lower stomach area or groin. Urine that looks pink, red or brown due to blood. Frequent urge to pee, also called urination. Pain when peeing. Not being able to urinate or peeing only a small amount. Chills, fever, upset stomach or vomiting. […] Without treatment, primary hyperoxaluria can damage the kidneys. Over time the kidneys may stop working. This is called kidney failure. For some people, this is the first sign of the disease.
  • #1 What Is Hyperoxaluria?
    https://www.icliniq.com/articles/kidney-and-urologic-diseases/what-is-hyperoxaluria
    Kidney stones are the first symptom of hyperoxaluria. The other symptoms experienced by the patient due to kidney stones are listed below: […] The presence of excessive oxalates in the urine increases the risk of kidney stones. It is because calcium and oxalates in the urine clump together to form calcium oxalate stones. […] The symptoms can be associated with kidney stone formation, hematuria, or kidney failure. […] Hematuria is the presence of blood in urine and generally occurs with hyperoxaluria. […] Flank Pain – Pain in the lower back or side of the body, which is dull and can be moderate to severe. […] Hyperoxaluria must be treated at the earliest as it damages the kidneys to a large extent. The complications of hyperoxaluria are listed below: […] End-Stage Renal Disease – When the calcium oxalate stones repeatedly form, the kidneys fail to function permanently. It is known as end-stage renal disease, and the patient has to be on dialysis or undergo a kidney transplant.
  • #1 Hyperoxaluria: Causes, Symptoms, Diagnosis & Treatment
    https://my.clevelandclinic.org/health/diseases/21117-hyperoxaluria
    Hyperoxaluria is a condition that occurs when theres too much oxalate in your pee. Kidney stones are usually the first symptom. […] Symptoms of hyperoxaluria can develop anytime from infancy to adulthood. The average age that symptoms appear is 5 years old. […] People with primary hyperoxaluria tend to get recurring kidney stones as a child or teenager (usually before age 20). If infants develop primary hyperoxaluria, the condition tends to be severe. About 50% of these children will experience kidney failure by age 15. About 80% will experience kidney failure by age 30. […] Kidney damage, which can lead to kidney failure, is the main complication of hyperoxaluria. […] When kidney damage sets in, your kidneys cant eliminate excess oxalate. This causes oxalate crystals to build up in other areas of your body like your blood, bones, muscles and heart. When oxalate builds up in your bodys tissues or organs, its called oxalosis.
  • #1 Hyperoxaluria and oxalosis – Symptoms and causes – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/hyperoxaluria/symptoms-causes/syc-20352254
    Chills, fever, upset stomach or vomiting. […] Without treatment, primary hyperoxaluria can damage the kidneys. […] Over time the kidneys may stop working. This is called kidney failure. […] Symptoms of kidney failure include: Peeing less than usual or not peeing at all. […] Feeling ill and tired. […] Not feeling hungry. […] Upset stomach and vomiting. […] Pale, ashen skin or other changes to skin color tied to having a low number of red blood cells, also called anemia. […] Swelling of hands and feet. […] Oxalosis happens if you have primary or enteric hyperoxaluria and your kidneys stop working well enough. […] The body can no longer get rid of the extra oxalate, so the oxalate starts building up. […] First it builds up in the blood, then in the eyes, bones, skin, muscles, blood vessels, heart and other organs. […] Oxalosis can cause many health problems outside the kidneys in its late stages. […] These include: Bone disease. […] Anemia. […] Skin ulcers. […] Heart and eye problems. […] In children, serious problems developing and growing.
  • #1 PH1: Signs and Symptoms of Primary Hyperoxaluria Type 1
    https://www.webmd.com/kidney-stones/primary-hyperoxaluria-type-1-symptoms
    While people with primary hyperoxaluria type 1 (PH1) often have kidney-related problems, the disease can have many warning signs that vary from person to person. […] Some people have mild symptoms. Others have serious, sometimes life-threatening ones. Even two people in the same family who have PH1 can have different symptoms. Some people never have symptoms. […] About 10% of people with PH1 get their first symptoms between infancy and early childhood. This type, called infantile PH1, can be serious. […] Parents may notice that their baby is too small in height and weight for their age. This is called failure to thrive. […] Another early sign of PH1 in babies and very young children is painful stones in their kidneys, bladders, or urethras. […] Symptoms of kidney or urinary tract stones include: Blood in the urine, Pain when you pee, Need to pee often, Belly pain, Many urinary tract infections, Blocked urinary tract, Sudden, serious back pain, Chills, Fever.
  • #1 Hyperoxaluria and oxalosis | Altru Health System
    https://www.altru.org/health-library/conditions/hyperoxaluria-and-oxalosis
    Oxalosis happens if you have primary or enteric hyperoxaluria and your kidneys stop working well enough. The body can no longer get rid of the extra oxalate, so the oxalate starts building up. First it builds up in the blood, then in the eyes, bones, skin, muscles, blood vessels, heart and other organs. […] Oxalosis can cause many health problems outside the kidneys in its late stages. These include: Bone disease. Anemia. Skin ulcers. Heart and eye problems. In children, serious problems developing and growing.
  • #1 PH1: Signs and Symptoms of Primary Hyperoxaluria Type 1
    https://www.webmd.com/kidney-stones/primary-hyperoxaluria-type-1-symptoms
    Oxalate can also build up in other parts of your body, like your: Bones, Eyes, Heart, Skin, Blood vessels, Central nervous system. […] The hard crystal deposits can damage these organs and tissues. As this gets worse, you get a complication called oxalosis. […] Oxalosis may cause serious symptoms like: Bone pain, Broken bones, Abnormally hard, dense bones, Dental problems like tooth pain or loose teeth, and exposure of the tooth roots and pulp, Anemia thats hard to treat, Damage to a nerve that affects eyesight, called optic atrophy, Retinopathy, a disease of your eyes retina, Peripheral neuropathy, a painful nerve condition, Irregular heartbeat, Heart block, in which your heart beats too slowly, Inflammation of your heart tissue, Stroke, Narrowed blood vessels, Joint pain, Swollen liver or spleen, Purple spots on the skin, Skin rashes, Gangrene (death of body tissue) on your hands or feet.
  • #1 Hyperoxaluria: Practice Essentials, Oxalate Production and Function, Pathophysiology and Etiology
    https://emedicine.medscape.com/article/444683-overview
    When AGT is lacking, oxalate production soars. […] In type 2 primary hyperoxaluria the missing enzyme is glyoxylate reductase/hydroxypyruvate reductase (GRHPR), which can be detected in leukocyte preparations. […] Type 2 has been considered to have a more favorable prognosis than type 1. […] Approximately 25-50% of individuals with type 2 progress to kidney failure. […] Type 3 primary hyperoxaluria is due to mutations in the HOGA1 (formerly DHDPSL) gene. […] Onset of symptoms occurs at a younger age than in types 1 and 2 but decline in kidney function is slower; progression to chronic kidney disease stage 3 or worse has been found in 5.4%-13.9% of patients, with end-stage renal disease rarely reported. […] Enteric hyperoxaluria accounts for approximately 5% of all cases of hyperoxaluria.
  • #1 Primary hyperoxaluria – UpToDate
    https://www.uptodate.com/contents/primary-hyperoxaluria
    Primary hyperoxalurias (PHs) are rare inborn errors of glyoxylate metabolism characterized by the overproduction of oxalate, which is poorly soluble and is deposited as calcium oxalate in various organs. […] In patients with PH, the increased production results in increased urinary excretion of oxalate leading to kidney injury and, in some cases, end-stage kidney failure. […] As oxalate is typically excreted in the urine, the kidney is the prime target for excessive oxalate deposition resulting in nephrocalcinosis and kidney stones and, in some cases, end-stage kidney disease (ESKD). […] It is the most severe form of PH, with more rapid progression to kidney dysfunction and the development of ESKD in one-half of patients by young adulthood, historically.
  • #1 Primary hyperoxaluria: MedlinePlus GeneticsLock
    https://medlineplus.gov/genetics/condition/primary-hyperoxaluria/
    In primary hyperoxaluria type 1, kidney stones typically begin to appear anytime from childhood to early adulthood, and ESRD can develop at any age. Primary hyperoxaluria type 2 is similar to type 1, but ESRD develops later in life. In primary hyperoxaluria type 3, affected individuals often develop kidney stones in early childhood, but few cases of this type have been described so additional signs and symptoms of this type are unclear.
  • #1 Hyperoxaluria: Practice Essentials, Oxalate Production and Function, Pathophysiology and Etiology
    https://emedicine.medscape.com/article/444683-overview
    The basic mechanism is competition for the available ingested calcium, the leading intestinal oxalate-binding agent. […] Hyperoxaluria has been reported to be the most common urinary metabolic abnormality in patients with stones who have undergone bariatric surgery. […] The prognosis of patients with primary hyperoxaluria depends on early treatment and management of hyperoxaluria and associated renal deterioration. […] If medical treatment cannot help the patient maintain a normal oxalate level, nephrocalcinosis may develop, with subsequent renal failure. […] In primary hyperoxaluria, urinary oxalate excretion is typically more than 100 mg/d. […] Enteric hyperoxaluria is characterized by very high urinary oxalate levels (usually 80 mg/d or more) and hypocalciuria, with urinary calcium excretion usually less than 100 mg/d. […] Urinary oxalate excretion in idiopathic or mild hyperoxaluria is usually 40-60 mg/d. […] Symptoms of oxalate poisoning include local irritation and systemic effects. […] All forms of hyperoxaluria are associated with recurrent urolithiasis.
  • #1 Secondary hyperoxaluria: Cause and consequence of chronic kidney disease | Nefrología
    https://www.revistanefrologia.com/en-secondary-hyperoxaluria-cause-consequence-chronic-articulo-S2013251424002359
    Secondary hyperoxaluria is a metabolic disorder characterized by an increase in urinary oxalate excretion. The etiology may arise from an increase in the intake of oxalate or its precursors, decreased elimination at the digestive level, or heightened renal excretion. […] The main organ affected in secondary hyperoxaluria is the kidney, which may suffer damage from nephrocalcinosis or renal lithiasis, potentially progressing to end-stage renal failure. However, calcium oxalate deposits can manifest in other organs, such as the retina, heart and peripheral nervous system, with a notable absence of deposits in the liver. […] Clinically, the main organ affected is the kidney, with the most common manifestations being calcium oxalate nephrolithiasis and nephrocalcinosis. Both entities lead to parenchymal inflammation and chronic interstitial damage, which can result in progressive renal failure and end-stage renal disease in up to 50% of cases, correlating with urine oxalate levels.
  • #1 Primary and secondary hyperoxaluria: Understanding the enigma
    https://pmc.ncbi.nlm.nih.gov/articles/PMC4419133/
    Hyperoxaluria is characterized by an increased urinary excretion of oxalate. The disease spectrum extends from recurrent kidney stones, nephrocalcinosis and urinary tract infections to chronic kidney disease and end stage renal disease. When calcium oxalate burden exceeds the renal excretory ability, calcium oxalate starts to deposit in various organ systems in a process called systemic oxalosis. Increased urinary oxalate levels help to make the diagnosis while plasma oxalate levels are likely to be more accurate when patients develop chronic kidney disease. Hyperoxaluria has the potential to cause devastating consequences which can present as early as infancy or in the sixth decade of life and if not addressed appropriately, can cause significant morbidity and mortality including End Stage Renal Disease (ESRD). Elevated plasma oxalate levels lead to oxalate deposition in various organ systems. Systemic oxalosis should be prevented but the diagnosis is often delayed in more than 40% of patients. Hyperoxaluria continues to be a challenging disease and appropriate treatment requires a high index of suspicion and a timely diagnosis. Patients may present early in life during infancy with life threatening oxalosis and failure to thrive or in adulthood after passing an occasional stone. Overall, the disease is characterized by recurrent nephrolithiasis and progressive nephrocalcinosis leading to renal damage and as a result, the majority of the patients reach ESRD during 3rd-5th decade of life. PH2 is a less aggressive form of PH with better preservation of renal function and lower incidence of end stage renal disease and less severe nephrocalcinosis compared to PH1. The differences are accounted for by the higher oxalate excretion in PH1 and altered urine composition with reduced urinary levels of citrate and magnesium in PH1 compared to PH2. Patients with secondary hyperoxaluria have a predisposition to developing recurrent calcium oxalate stones due to the underlying disorder. This leads to worsening renal damage and progression to ESRD. Systemic oxalosis is less common in secondary hyperoxaluria but reported in some severe cases of Crohns disease. Calcium oxalate deposits have been reported in the myocardium, cardiac conduction system, kidneys, bones and bone marrow. This leads to cardiomyopathy, heart block and other cardiac conduction defects, vascular disease, retinopathy, synovitis, oxalate osteopathy and anemia that is noted to be resistant to treatment.
  • #1 Primary hyperoxaluria – Wikipedia
    https://en.wikipedia.org/wiki/Primary_hyperoxaluria
    Primary hyperoxaluria is a rare condition (autosomal recessive), resulting in increased excretion of oxalate (up to 600 mg a day from normal 50 mg a day), with oxalate stones being common. […] A single kidney stone in children or recurrent stones in adults is often the first warning sign of primary hyperoxaluria. Other symptoms range from recurrent urinary tract infections, severe abdominal pain or pain in the side, blood in the urine, to chronic kidney disease and kidney failure. […] The age of symptom onset, progression and severity can vary greatly from one person to another, even among members of the same family. Some individuals may have mild cases that go undiagnosed well into adulthood; others may develop severe complications during infancy, which may result in early death. […] Oxalate stones in primary hyperoxaluria tend to be severe, resulting in relatively early kidney damage (in teenage years to early adulthood), which impairs the excretion of oxalate leading to a further acceleration in accumulation of oxalate in the body.
  • #1
    https://journals.lww.com/cjasn/fulltext/2020/07000/primary_hyperoxaluria__the_patient_and_caregiver.2.aspx
    Living with primary hyperoxaluria, a rare genetic disease with excess oxalate production leading to frequent kidney stones, kidney impairment, and oxalosis, presents many challenges to patients, caregivers, and their families. […] The decline in kidney function is variable, ranging from months to years, and can occur abruptly after an acute episode of dehydration, a stone obstruction, or stone surgery. The consequences of kidney failure can be particularly grave in primary hyperoxaluria because plasma oxalate levels rise rapidly, leading to oxalosis. […] Patients fear progression to oxalosis and worry about the associated bone fractures, anemia, heart failure, joint damage, skin ulceration, severe weakness, vision impairment, and neuropathy. […] Families desperately seek new treatment options to reduce the frequency of kidney stones, the need for organ transplantation, kidney failure, and oxalosis.
  • #1 About Primary Hyperoxaluria Type 1 (PH1) | Behind the Stone®
    https://www.aboutph1.com/about-ph1-primary-hyperoxaluria-type-1
    Complications from systemic oxalosis can be fatal. […] In some instances, kidney function can decline after a single incident of dehydration due to acute illness or intense physical activity. […] Given the nature of this disease, PH1 can go undiagnosed for many years. Early symptoms in adults, such as kidney stones, are often attributed to other, much more common conditions. We need to help physicians recognize symptoms faster, to potentially stop progression before a patient reaches end-stage renal failure.
  • #1 Primary hyperoxaluria – Wikipedia
    https://en.wikipedia.org/wiki/Primary_hyperoxaluria
    After the development of kidney failure patients may get deposits of oxalate in the bones, joints and bone marrow. Severe cases may develop haematological problems such as anaemia and thrombocytopaenia. The deposition of oxalate in the body is sometimes called „oxalosis” to be distinguished from „oxaluria” which refers to oxalate in the urine. […] However, recent evidence has suggested that PH2 and PH3 are not as benign as previously thought, with up to 50% of patients with PH2 developing kidney failure (chronic kidney disease [CKD] stage 5). […] Kidney failure is a serious complication requiring treatment in its own right. Dialysis can control kidney failure but tends to be inadequate to dispose of excess oxalate. Renal transplant is more effective and is the primary treatment of severe hyperoxaluria. Ultimately though, liver transplantation (often in addition to renal transplant) is required to correct the underlying metabolic defect.
  • #1 Orphanet: Primary hyperoxaluria
    https://www.orpha.net/en/disease/detail/416
    A disorder of glyoxylate metabolism characterized by an excess of oxalate resulting in kidney stones, nephrocalcinosis and ultimately renal failure and systemic oxalosis. […] Hyperoxaluria may lead to kidney stones, nephrocalcinosis and ultimately renal failure and systemic oxalosis. Symptoms can appear at any age and may vary from infantile failure to thrive and cortical nephrocalcinosis with renal failure to hematuria, medullary nephrocalcinosis or sporadic stone disease, even within one family. […] Overall, more than 70% of PH1 patients develop end-stage kidney disease over time; this may even occur in patients with sporadic stone disease. […] Storage of oxalate occurs in severe renal failure and may affect bone, eyes, heart, arteries and peripheral nerves (systemic oxalosis). […] The prognosis for other PH1 B6 unresponsive patients is poor with respect to renal function (80% renal failure over time), better for B6 responsive patients, if timely diagnosed and treated. End-stage kidney disease has been found in 20% of PH2 patients, so far not in PH3.
  • #1 What Is Primary Hyperoxaluria Type 1 (PH1)? Life Expectancy
    https://www.medicinenet.com/what_is_primary_hyperoxaluria_type_1_ph1/article.htm
    The life expectancy is extremely poor if primary hyperoxaluria type 1 (PH1) is not treated. PH1 causes progressive kidney failure without treatment, which results in death. […] End-stage kidney disease typically manifests in patients between the third and fifth decade of life. However, by the age of three years, end-stage kidney disease will be diagnosed in about 80 percent of patients with early onset. […] Patients with PH1 have a significant clinical burden, including kidney stones, urinary tract infections, fatigue/weakness and pain, and require repeated kidney stone operations, hospitalizations and emergency visits at various stages of renal disease.
  • #1 Primary hyperoxaluria type 1 | Myriad Foresight® Carrier Screen
    https://myriad.com/womens-health/diseases/primary-hyperoxaluria-type-1/
    The prognosis for an individual with PH1 is variable and depends on how early the disease is detected and treated. Without treatment, PH1 leads to progressive kidney failure and eventually death. For most patients, end-stage kidney disease occurs in the third to the fifth decade. However, approximately 80% of patients with onset in infancy will be diagnosed with end-stage kidney disease by the age of 3. For those with onset in childhood, 50% will develop end-stage kidney disease by the age of 15. Death in the first decade of life is possible for those with early-onset disease. […] Following organ transplant, some individuals with PH1 have lived normal or near-normal lifespans.
  • #1
    https://journals.lww.com/cjasn/fulltext/2020/07000/end_points_for_clinical_trials_in_primary.26.aspx
    Of the three types of primary hyperoxaluria, primary hyperoxaluria type 1 is the most severe form with more frequent nephrocalcinosis and kidney failure at earlier ages. […] Nephrocalcinosis is also associated with risk of kidney failure in patients with primary hyperoxaluria. […] In all primary hyperoxaluria types, the urine becomes supersaturated, resulting in formation of calcium oxalate crystals that aggregate within the tubular lumen. […] Persistently elevated urine oxalate levels cause kidney stone formation and also contribute to progressive kidney damage and loss of kidney function. […] Epidemiologic data show a strong relationship between urine oxalate and long-term kidney function loss. […] In a large population of patients who did not have primary hyperoxaluria with baseline CKD stages 2-4, higher 24-hour urinary oxalate excretion was an independent risk factor for CKD progression and kidney failure.
  • #1 Clinical practice recommendations for primary hyperoxaluria: an expert consensus statement from ERKNet and OxalEurope | Nature Reviews Nephrology
    https://www.nature.com/articles/s41581-022-00661-1
    Primary hyperoxaluria (PH) is an inherited disorder that results from the overproduction of endogenous oxalate, leading to recurrent kidney stones, nephrocalcinosis and eventually kidney failure; the subsequent storage of oxalate can cause life-threatening systemic disease. […] In PH, the combination of intra-tubular and interstitial deposits of calcium oxalate, chronic tubulo-interstitial inflammation and kidney obstruction by stones leads to kidney failure in more than 70% of patients. […] As soon as glomerular filtration rate (GFR) falls below 30-40 ml/min/1.73 m², hepatic oxalate production exceeds renal removal, leading to systemic oxalate storage in various tissues, including bone, heart, vessels, nerves and eye, and causing life-threatening multi-organ disease. […] More than 50% of children with PH1 diagnosed in infancy present with stage 5 CKD.
  • #1 About Primary Hyperoxaluria Type 1 (PH1) | Living with PH1™
    https://www.livingwithph1.eu/about-ph1-primary-hyperoxaluria-type-1
    The kidney damage from PH1 affects the kidneys’ ability to filter waste from your blood and to create urine. Over time, the build-up of crystals in the kidneys can lead to chronic kidney disease (CKD) or even kidney failure, also known as end-stage renal disease (ESRD). […] As kidney function worsens, the kidneys are no longer able to get rid of oxalate properly, and it starts to spread and form crystals throughout the body in a process called systemic oxalosis. Crystals cause damage where they are deposited. This can happen in multiple organs in the body, including the bones, eyes, skin and heart. […] Although kidney stones are the most common and often the first symptom of PH1, not all people with PH1 will have stones. When you have PH1, your kidneys are at risk for damage even if you do not have stones. […] Symptoms of end-stage renal disease (ESRD) can include: Producing little or no urine, Feeling ill and tired, Loss of appetite, nausea and vomiting, Pale skin color, Swelling of the hands and feet, In PH1, poor kidney function that can lead to oxalate spreading throughout the body.
  • #1
    https://journals.lww.com/cjasn/fulltext/2020/07000/end_points_for_clinical_trials_in_primary.26.aspx
    Patients with primary hyperoxaluria experience kidney stones from a young age and can develop progressive oxalate nephropathy. […] Progression to kidney failure often develops over a number of years, and is associated with systemic oxalosis, intensive dialysis, and often combined kidney and liver transplantation. […] Patients with primary hyperoxaluria typically experience kidney stones at a young age, have multiple recurrent stones, and often develop nephrocalcinosis, progressive oxalate nephropathy, and kidney failure. […] Because oxalate is primarily eliminated by the kidneys, advanced CKD results in high plasma oxalate concentrations which exceed the saturation threshold for calcium oxalate. […] In patients with primary hyperoxaluria who have kidney failure, dialysis cannot remove enough oxalate to prevent progressive systemic oxalosis, and kidney transplantation alone often fails due to recurrent oxalate injury in the allograft.
  • #1 Secondary hyperoxaluria: Cause and consequence of chronic kidney disease | Nefrología
    https://www.revistanefrologia.com/en-secondary-hyperoxaluria-cause-consequence-chronic-articulo-S2013251424002359
    Increased blood oxalate leads to crystallization, causing oxalosis, a systemic form of hyperoxaluria. Oxalate deposits may be found in various organs except the liver. One of the first clear signs of systemic oxalosis is retinal deposits. […] Given the irreversibility of the lesions, the patient is currently on chronic hemodialysis. […] Secondary hyperoxaluria is a disease that is probably underdiagnosed. It is associated with different pathologies, generating a proinflammatory state that leads to a dysfunction of the SCLA26A transporter, a key factor in the pathophysiology of this entity. The increase in the prevalence of endocrine-metabolic diseases has been accompanied by a parallel rise in cases of hyperoxaluria, explained by the involvement of these diseases in its etiopathogenesis. Presently, we do not have a specific treatment, so early diagnosis and prevention are the best strategic tools.
  • #1
    https://omim.org/entry/259900
    Primary hyperoxaluria type I (HP1) is an autosomal recessive disorder characterized by an accumulation of calcium oxalate in various bodily tissues, especially the kidney, resulting in renal failure. Affected individuals have decreased or absent AGXT activity and a failure to transaminate glyoxylate, which causes the accumulated glyoxylate to be oxidized to oxalate. This overproduction of oxalate results in the accumulation of nonsoluble calcium oxalate in various body tissues, with pathologic sequelae […] Most patients die of renal failure in early adulthood […] About 10% of patients have a severe early onset in the first months of life […] Boquist et al. (1973) reported a 46-year-old man with primary oxalosis who had onset of symptoms as an adult characterized by elevated levels of serum and urinary oxalic acid, as well as increased urinary excretion of glycolic and glyoxylic acid. He developed uremia and was treated with dialysis, but the disease progressed, with the appearance of polyneuropathy and peripheral ischemic changes leading to atrophy and gangrene. He died in uremia after 14 months of hemodialysis.
  • #1
    https://www.novomedlink.com/rare-renal-disorders/hcp-education/clinical/what-is-ph1.html
    PH1 is a rare and progressive genetic disorder that causes oxalate overproduction by the liver. This causes progressive kidney damage which can lead to end-stage kidney disease. […] The symptom presentation and disease course of PH1 is unpredictable and varies by patient. Early diagnosis and appropriate management are critical. […] Early diagnosis is crucial for appropriate management of PH1. It is important to understand and recognize key signs and symptoms, which can include: […] Chronic kidney disease (CKD) with no known etiology […] Nephrocalcinosis […] Systemic oxalosis […] Severe infantile form: failure to thrive, end-stage renal disease, severe retinal abnormalities […] End-stage renal disease (ESRD) […] Elevated urinary oxalate (UOx) levels. […] PH1 progression is unpredictable; therefore, it should be treated early and monitored continuously.
  • #1 Warning Signs of Primary Hyperoxaluria (PH) | Uncovering PH
    https://www.uncoveringph.com/warning-signs.html
    A single kidney stone in children or recurring kidney stones in adults should cause suspicion of primary hyperoxaluria (PH). […] Many patients are asymptomatic for years, with 18% of people with primary hyperoxaluria type 1 being diagnosed by familial screening before they show any symptoms. […] Children should not develop bladder or kidney stones, and the presence of even a single kidney stone in an infant or child should immediately raise suspicion of a genetic condition like primary hyperoxaluria. […] A single kidney stone in an adult is not uncommon, but recurring kidney stones can be indications of an underlying metabolic disorder or genetic disease. […] Suspect primary hyperoxaluria when a patient presents with reduced renal function combined with nephrocalcinosis or a high occurrence of kidney stones.
  • #1 Warning Signs of Primary Hyperoxaluria (PH) | Uncovering PH
    https://www.uncoveringph.com/warning-signs.html
    Both pediatric and adult patients with early signs of nephrocalcinosis should be screened for primary hyperoxaluria. […] Kidney failure can be the first clinical indication of primary hyperoxaluria in some patients, even in infancy. When patients are in kidney failure, calcium oxalate can deposit in tissues throughout the body. […] Systemic oxalosis can also impact bone, skin, heart, and eye health. […] In a study, infantile onset was shown to occur in 18% of patients with PH1. Infants with this severe form present with end-stage kidney disease, failure to thrive, severe retinal abnormalities, and vision loss during their first year. […] Studies have shown that many people are not diagnosed with PH until they are in ESRD (35% of all patients with PH1 and 11% of patients with PH2), although these patients often had earlier symptoms that went unrecognized, such as recurring kidney stones. 59% to 70% of people diagnosed with PH1 as adults are in ESRD at the time of diagnosis.
  • #1 What Is Primary Hyperoxaluria Type 1 (PH1)? Life Expectancy
    https://www.medicinenet.com/what_is_primary_hyperoxaluria_type_1_ph1/article.htm
    Primary hyperoxaluria type 1 (PH1) is a severe, progressive, and potentially fatal condition. PH1 can cause significant renal problems. […] The organs harmed by oxalate accumulation determine the subsequent phases of PH1. A person may experience significant, unpleasant, or life-threatening issues, such as: Broken bones, Irregular heartbeat, Eye disease, Stroke, Enlarged liver, Peripheral neuropathy (a painful type of nerve damage). […] Regardless of when a patient receives a PH1 diagnosis, they must work with their physician and begin treatment as soon as possible to avoid complications. […] Primary hyperoxaluria type 1 (PH1) has varying rates of severity and outcome. […] An early and accurate diagnosis, followed by aggressive supportive treatment, plays a significant role in both short- and long-term outcomes.
  • #1 Hyperoxaluria: Practice Essentials, Oxalate Production and Function, Pathophysiology and Etiology
    https://emedicine.medscape.com/article/444683-overview
    High levels of oxalate in the system can produce various health problems, particularly kidney stone formation. […] The 4 main types of hyperoxaluria—primary hyperoxaluria, enteric hyperoxaluria, dietary hyperoxaluria, and idiopathic or mild hyperoxaluria—are the results of different pathophysiologic processes. […] Primary hyperoxaluria is a group of rare disorders due exclusively to genetic defects that cause a loss of specific enzymatic activity. […] With the normal metabolic pathway blocked, the alternative pathway that leads to oxalate production as an end-product of glyoxylate metabolism becomes extremely active, resulting in extremely high oxalate production. […] In type 1 primary hyperoxaluria, the missing enzyme is alanine-glyoxylate aminotransferase (AGT), which is normally found only in the hepatic peroxisomes.
  • #1 Primary Hyperoxaluria Type 1 | National Kidney Foundation
    https://www.kidney.org/kidney-topics/primary-hyperoxaluria-type-1
    Kidney failure caused by PH1 before the age of 1 year is also known as infantile oxalosis. […] Early diagnosis is very important so that treatment can be started as soon as possible, especially for babies and children who show symptoms. High levels of oxalate in the blood and/or urine can combine with calcium and cause calcium oxalate stones. […] Without treatment, this cycle of damage can lead to kidney failure for most people living with PH1. […] Many people with PH1 develop kidney failure. When this happens, dialysis is used to help filter the blood since the kidneys are no longer able to do so. […] If you have PH1 and need to start dialysis, talk with your healthcare professional about how your dialysis settings may need to be customized for your PH1.
  • #1 Primary Hyperoxaluria Type 1 | National Kidney Foundation
    https://www.kidney.org/kidney-topics/primary-hyperoxaluria-type-1
    Primary hyperoxaluria type 1 (PH1) is a rare genetic condition causing high oxalate levels in urine, leading to kidney stones and potential kidney failure. […] The symptoms of PH1 are different for everyone and can begin at any time of life. Most people with PH1 develop symptoms as a child or young adult. Some of the most common symptoms include: Having kidney stones often, Sharp pain in your back, side, or groin area, Blood in the urine (pee), Frequent urinary tract infections (UTIs), Painful urination (pain when peeing), Urinary incontinence (loss of bladder control or bed-wetting), Needing to pee often, Not able to pee or peeing in small amounts. […] PH1 symptoms can start as early as babies less than 1 year old. In these more severe cases, you may notice your baby is very weak and/or too small in height and weight (also known as failure to thrive) or shows signs of kidney failure.
  • #1 PH1: Signs and Symptoms of Primary Hyperoxaluria Type 1
    https://www.webmd.com/kidney-stones/primary-hyperoxaluria-type-1-symptoms
    Babies and young children with PH1 may also have gradual kidney damage from the buildup of oxalate crystals. As this damage gets worse, they can have kidney failure. […] Most people with PH1 have the first signs as children or teens. These kids may often have kidney or urinary stones. […] Kids and teens with PH1 may have kidney damage that gets worse over time. It can sometimes lead to kidney failure. […] Some people dont have any signs of PH1 until theyre adults, even as late as their 50s. They may repeatedly have kidney stones. If a stone causes a blockage, they may have kidney failure. […] When PH1 symptoms first happen in adulthood, its considered a milder form of the disease. But as many as half of adults with PH1 get kidney disease or kidney failure. […] People with primary PH1 can have serious complications if they don’t get treated. As their disease gets worse, they can get kidney failure. Its symptoms include: Making little or no urine, Fatigue, Feeling ill overall, No appetite, Nausea, Vomiting, Pale skin, Swollen hands or feet.
  • #1 Understanding Hyperoxaluria | OHF
    https://ohf.org/understanding-hyperoxaluria/
    Hyperoxaluria is a condition in which you have too much oxalate in your urine. […] High levels of oxalate are toxic because oxalate cannot be broken down by the body and accumulates in the kidneys that may cause kidney stones. […] Recurrent kidney stones in adults or any kidney stone in a child is usually the most common sign that you might have PH. […] Although kidney stones are the most common and often the first symptom of hyperoxaluria, not all individuals with hyperoxaluria will have kidney stones. […] If you experience the below signs and symptoms, you should further investigate to understand the cause, because it could be hyperoxaluria: High levels of oxalate, Urinary tract infection, Blood in the urine, Kidney stones as a child, even only 1, Failure to thrive (not growing adequately as a baby), Recurrent kidney stones, Nephrocalcinosis (finding crystals in kidney tissue), Kidney failure. […] Patients with advanced kidney disease may require intensive dialysis to help filter waste products, including oxalate, from their blood and may require a kidney or dual liver/kidney transplant, an invasive procedure associated with high-risk outcomes and life-long immunosuppression.
  • #2 Understanding Hyperoxaluria | OHF
    https://ohf.org/understanding-hyperoxaluria/
    Hyperoxaluria is a condition in which you have too much oxalate in your urine. […] High levels of oxalate are toxic because oxalate cannot be broken down by the body and accumulates in the kidneys that may cause kidney stones. […] Recurrent kidney stones in adults or any kidney stone in a child is usually the most common sign that you might have PH. […] Although kidney stones are the most common and often the first symptom of hyperoxaluria, not all individuals with hyperoxaluria will have kidney stones. […] If you experience the below signs and symptoms, you should further investigate to understand the cause, because it could be hyperoxaluria: High levels of oxalate, Urinary tract infection, Blood in the urine, Kidney stones as a child, even only 1, Failure to thrive (not growing adequately as a baby), Recurrent kidney stones, Nephrocalcinosis (finding crystals in kidney tissue), Kidney failure. […] Patients with advanced kidney disease may require intensive dialysis to help filter waste products, including oxalate, from their blood and may require a kidney or dual liver/kidney transplant, an invasive procedure associated with high-risk outcomes and life-long immunosuppression.
  • #2 Hyperoxaluria and oxalosis – Augusta HealthSearchClose SearchSearch IconSearch IconClose Search IconMobile Menu IconMobile Menu Close IconInstagramFacebookTwitterYoutube
    https://www.augustahealth.com/disease/hyperoxaluria-and-oxalosis/
    Hyperoxaluria occurs when you have too much oxalate in your urine. […] Hyperoxaluria can be caused by inherited (genetic) disorders, an intestinal disease or eating too many oxalate-rich foods. […] Oxalosis happens after the kidneys fail in people who have primary and intestinal causes of hyperoxaluria, and excess oxalate builds up in the blood. This can lead to oxalate deposits in blood vessels, bones and body organs. […] Often, the first sign of hyperoxaluria is a kidney stone. Symptoms of a kidney stone can include: Severe or sudden back pain, Pain in the area below the ribs on the back (flank) that doesn’t go away, Blood in the urine, Frequent urge to urinate, Pain when urinating, Chills or fever. […] Oxalosis in its late stages can cause a variety of complications outside the kidney, including bone disease, anemia, skin ulcers, heart and eye problems, and in children, a failure to develop and grow normally.
  • #2 Hyperoxaluria and oxalosis | Beacon Health System
    https://www.beaconhealthsystem.org/library/diseases-and-conditions/hyperoxaluria-and-oxalosis?content_id=CON-20166953
    Hyperoxaluria can be caused by a change in a gene, an intestine disease or eating too many foods that are high in oxalate. […] The long-term health of your kidneys depends on finding hyperoxaluria early and getting it treated quickly. […] Often, the first sign of hyperoxaluria is a kidney stone. Kidney stone symptoms can include: Sharp pain in the back, side, lower stomach area or groin. Urine that looks pink, red or brown due to blood. Frequent urge to pee, also called urination. Pain when peeing. Not being able to urinate or peeing only a small amount. Chills, fever, upset stomach or vomiting. […] Symptoms of kidney failure include: Peeing less than usual or not peeing at all. Feeling ill and tired. Not feeling hungry. Upset stomach and vomiting. Pale, ashen skin or other changes to skin color tied to having a low number of red blood cells, also called anemia. Swelling of hands and feet.
  • #2 Hyperoxaluria and oxalosis
    https://www.mymlc.com/health-information/diseases-and-conditions/h/hyperoxaluria-and-oxalosis/?section=Treatment
    Hyperoxaluria occurs when you have too much oxalate in your urine. […] Oxalosis happens after the kidneys fail in people who have primary and intestinal causes of hyperoxaluria, and excess oxalate builds up in the blood. This can lead to oxalate deposits in blood vessels, bones and body organs. […] Often, the first sign of hyperoxaluria is a kidney stone. Symptoms of a kidney stone can include: Severe or sudden back pain, Pain in the area below the ribs on the back (flank) that doesn’t go away, Blood in the urine, Frequent urge to urinate, Pain when urinating, Chills or fever. […] Untreated primary hyperoxaluria can eventually damage your kidneys. Over time your kidneys may stop working. For some people, this is the first sign of the disease. […] Oxalosis in its late stages can cause a variety of complications outside the kidney, including bone disease, anemia, skin ulcers, heart and eye problems, and in children, a failure to develop and grow normally.
  • #2 Hyperoxaluria: Causes, Symptoms, Diagnosis & Treatment
    https://my.clevelandclinic.org/health/diseases/21117-hyperoxaluria
    Left untreated, hyperoxaluria can eventually lead to kidney damage and even kidney failure or death. Depending on its severity and the type, kidney dialysis and organ transplant may be necessary. […] In addition, oxalate crystals can build up in other areas of your body and cause bone disease, anemia and other medical issues. Because of these complications, prompt diagnosis and early treatment are important.
  • #2 Hyperoxaluria and oxalosis – Hancock Health
    https://www.hancockhealth.org/zh/mayo-health-library/hyperoxaluria-and-oxalosis/
    Without treatment, primary hyperoxaluria can damage the kidneys. Over time the kidneys may stop working. This is called kidney failure. For some people, this is the first sign of the disease. […] Symptoms of kidney failure include: Peeing less than usual or not peeing at all. Feeling ill and tired. Not feeling hungry. Upset stomach and vomiting. Pale, ashen skin or other changes to skin color tied to having a low number of red blood cells, also called anemia. Swelling of hands and feet. […] Oxalosis happens if you have primary or enteric hyperoxaluria and your kidneys stop working well enough. The body can no longer get rid of the extra oxalate, so the oxalate starts building up. First it builds up in the blood, then in the eyes, bones, skin, muscles, blood vessels, heart and other organs. […] Oxalosis can cause many health problems outside the kidneys in its late stages. These include: Bone disease. Anemia. Skin ulcers. Heart and eye problems. In children, serious problems developing and growing.
  • #2 Hyperoxaluria and oxalosis | Altru Health System
    https://www.altru.org/health-library/conditions/hyperoxaluria-and-oxalosis
    Oxalosis happens if you have primary or enteric hyperoxaluria and your kidneys stop working well enough. The body can no longer get rid of the extra oxalate, so the oxalate starts building up. First it builds up in the blood, then in the eyes, bones, skin, muscles, blood vessels, heart and other organs. […] Oxalosis can cause many health problems outside the kidneys in its late stages. These include: Bone disease. Anemia. Skin ulcers. Heart and eye problems. In children, serious problems developing and growing.
  • #2 Hyperoxaluria and oxalosis // Middlesex Health
    https://middlesexhealth.org/learning-center/diseases-and-conditions/hyperoxaluria-and-oxalosis
    Often, the first sign of hyperoxaluria is a kidney stone. Kidney stone symptoms can include: […] Symptoms of kidney failure include: […] Oxalosis happens if you have primary or enteric hyperoxaluria and your kidneys stop working well enough. The body can no longer get rid of the extra oxalate, so the oxalate starts building up. First it builds up in the blood, then in the eyes, bones, skin, muscles, blood vessels, heart and other organs. […] Oxalosis can cause many health problems outside the kidneys in its late stages. These include: Bone disease. Anemia. Skin ulcers. Heart and eye problems. In children, serious problems developing and growing.
  • #2 Primary Hyperoxaluria – Rare Kidney Stone Consortium
    https://www.rarekidneystones.org/hyperoxaluria/
    Sometimes, a patient may have already progressed to oxalosis and, during an eye examination, his or her ophthalmologist may discover oxalate crystals in the patient’s eyes. Oxalosis in its late stages will cause bone disease, the result of oxalate crystals depositing in the bones and joints. It may also cause anemia that is difficult to treat, skin ulcers, and heart problems. […] If left untreated, PH can lead to serious illness and even death. […] Among patients with type 1 primary hyperoxaluria, about 50 percent will have kidney failure by age 30-35 years. […] Patients most often develop the first symptoms, typically kidney stones, anywhere from birth to the mid-20s. […] But hyperoxaluria may go unrecognized until age 30 to 40 years or even later. […] In some patients the first symptom is kidney failure.
  • #2 Primary and secondary hyperoxaluria: Understanding the enigma
    https://pmc.ncbi.nlm.nih.gov/articles/PMC4419133/
    Hyperoxaluria is characterized by an increased urinary excretion of oxalate. The disease spectrum extends from recurrent kidney stones, nephrocalcinosis and urinary tract infections to chronic kidney disease and end stage renal disease. When calcium oxalate burden exceeds the renal excretory ability, calcium oxalate starts to deposit in various organ systems in a process called systemic oxalosis. Increased urinary oxalate levels help to make the diagnosis while plasma oxalate levels are likely to be more accurate when patients develop chronic kidney disease. Hyperoxaluria has the potential to cause devastating consequences which can present as early as infancy or in the sixth decade of life and if not addressed appropriately, can cause significant morbidity and mortality including End Stage Renal Disease (ESRD). Elevated plasma oxalate levels lead to oxalate deposition in various organ systems. Systemic oxalosis should be prevented but the diagnosis is often delayed in more than 40% of patients. Hyperoxaluria continues to be a challenging disease and appropriate treatment requires a high index of suspicion and a timely diagnosis. Patients may present early in life during infancy with life threatening oxalosis and failure to thrive or in adulthood after passing an occasional stone. Overall, the disease is characterized by recurrent nephrolithiasis and progressive nephrocalcinosis leading to renal damage and as a result, the majority of the patients reach ESRD during 3rd-5th decade of life. PH2 is a less aggressive form of PH with better preservation of renal function and lower incidence of end stage renal disease and less severe nephrocalcinosis compared to PH1. The differences are accounted for by the higher oxalate excretion in PH1 and altered urine composition with reduced urinary levels of citrate and magnesium in PH1 compared to PH2. Patients with secondary hyperoxaluria have a predisposition to developing recurrent calcium oxalate stones due to the underlying disorder. This leads to worsening renal damage and progression to ESRD. Systemic oxalosis is less common in secondary hyperoxaluria but reported in some severe cases of Crohns disease. Calcium oxalate deposits have been reported in the myocardium, cardiac conduction system, kidneys, bones and bone marrow. This leads to cardiomyopathy, heart block and other cardiac conduction defects, vascular disease, retinopathy, synovitis, oxalate osteopathy and anemia that is noted to be resistant to treatment.
  • #2 PH1: Signs and Symptoms of Primary Hyperoxaluria Type 1
    https://www.webmd.com/kidney-stones/primary-hyperoxaluria-type-1-symptoms
    Oxalate can also build up in other parts of your body, like your: Bones, Eyes, Heart, Skin, Blood vessels, Central nervous system. […] The hard crystal deposits can damage these organs and tissues. As this gets worse, you get a complication called oxalosis. […] Oxalosis may cause serious symptoms like: Bone pain, Broken bones, Abnormally hard, dense bones, Dental problems like tooth pain or loose teeth, and exposure of the tooth roots and pulp, Anemia thats hard to treat, Damage to a nerve that affects eyesight, called optic atrophy, Retinopathy, a disease of your eyes retina, Peripheral neuropathy, a painful nerve condition, Irregular heartbeat, Heart block, in which your heart beats too slowly, Inflammation of your heart tissue, Stroke, Narrowed blood vessels, Joint pain, Swollen liver or spleen, Purple spots on the skin, Skin rashes, Gangrene (death of body tissue) on your hands or feet.
  • #2 Primary hyperoxaluria: MedlinePlus GeneticsLock
    https://medlineplus.gov/genetics/condition/primary-hyperoxaluria/
    In primary hyperoxaluria type 1, kidney stones typically begin to appear anytime from childhood to early adulthood, and ESRD can develop at any age. Primary hyperoxaluria type 2 is similar to type 1, but ESRD develops later in life. In primary hyperoxaluria type 3, affected individuals often develop kidney stones in early childhood, but few cases of this type have been described so additional signs and symptoms of this type are unclear.
  • #2 Disease: Primary hyperoxaluria
    https://crisprmedicinenews.com/disease/card/primary-hyperoxaluria/
    Primary hyperoxaluria (PH) is a rare genetic disorder that leads to recurrent kidney and bladder stones, often progressing to end-stage renal disease (ESRD). […] Hyperoxaluria can lead to kidney stones, nephrocalcinosis, and eventually renal failure and systemic oxalosis. Symptoms can appear at any age, ranging from severe infantile failure to thrive and cortical nephrocalcinosis with renal failure, to milder cases that involve haematuria, medullary nephrocalcinosis, or sporadic kidney stones, even within the same family. […] In severe renal failure, oxalate accumulates in various tissues, affecting bones, eyes, heart, arteries, and peripheral nerves (systemic oxalosis). […] PH2 follows a milder course, with no cases of infantile oxalosis and about 20% of patients developing end-stage kidney disease later in life. […] PH3 is the least severe subtype, with very few cases of renal impairment and no reports of end-stage kidney disease.
  • #2
    https://omim.org/entry/259900
    Dennis et al. (1980) found that another complication of the disorder is peripheral vascular insufficiency resulting from spasm or arterial occlusion. Raynaud phenomenon, livedo reticularis, acrocyanosis, spasms of large arteries, gangrene and intermittent claudication have also been reported; these are late complications in patients with uremia. […] Morris et al. (1982) reported 3 infants with nephrocalcinosis and terminal renal failure due to oxalosis. All 3 had widespread oxalate deposition. […] The authors noted the unusually long survival of this patient […] Theodossiadis et al. (2002) reported a 22-year-old man with type I primary hyperoxaluria who developed slowly progressive visual loss due to crystalline retinopathy. He then developed rapid, severe visual loss in both eyes.
  • #2 Hyperoxaluria: Practice Essentials, Oxalate Production and Function, Pathophysiology and Etiology
    https://emedicine.medscape.com/article/444683-overview
    When AGT is lacking, oxalate production soars. […] In type 2 primary hyperoxaluria the missing enzyme is glyoxylate reductase/hydroxypyruvate reductase (GRHPR), which can be detected in leukocyte preparations. […] Type 2 has been considered to have a more favorable prognosis than type 1. […] Approximately 25-50% of individuals with type 2 progress to kidney failure. […] Type 3 primary hyperoxaluria is due to mutations in the HOGA1 (formerly DHDPSL) gene. […] Onset of symptoms occurs at a younger age than in types 1 and 2 but decline in kidney function is slower; progression to chronic kidney disease stage 3 or worse has been found in 5.4%-13.9% of patients, with end-stage renal disease rarely reported. […] Enteric hyperoxaluria accounts for approximately 5% of all cases of hyperoxaluria.
  • #3 Hyperoxaluria: Practice Essentials, Oxalate Production and Function, Pathophysiology and Etiology
    https://emedicine.medscape.com/article/444683-overview
    The basic mechanism is competition for the available ingested calcium, the leading intestinal oxalate-binding agent. […] Hyperoxaluria has been reported to be the most common urinary metabolic abnormality in patients with stones who have undergone bariatric surgery. […] The prognosis of patients with primary hyperoxaluria depends on early treatment and management of hyperoxaluria and associated renal deterioration. […] If medical treatment cannot help the patient maintain a normal oxalate level, nephrocalcinosis may develop, with subsequent renal failure. […] In primary hyperoxaluria, urinary oxalate excretion is typically more than 100 mg/d. […] Enteric hyperoxaluria is characterized by very high urinary oxalate levels (usually 80 mg/d or more) and hypocalciuria, with urinary calcium excretion usually less than 100 mg/d. […] Urinary oxalate excretion in idiopathic or mild hyperoxaluria is usually 40-60 mg/d. […] Symptoms of oxalate poisoning include local irritation and systemic effects. […] All forms of hyperoxaluria are associated with recurrent urolithiasis.