Hiperoksaluria i oksaloza – Charakterystyka, pielęgnacja i opieka

Hiperoksaluria i oksaloza
Charakterystyka, pielęgnacja i opieka

Hiperoksaluria charakteryzuje się nadmiernym wydalaniem szczawianu w moczu, co prowadzi do tworzenia kamieni szczawianowo-wapniowych i ryzyka uszkodzenia nerek, a w zaawansowanych stadiach do oksalozy z odkładaniem szczawianu w wielu narządach. Diagnostyka obejmuje co najmniej dwa pomiary szczawianu w dobowej zbiórce moczu u pacjentów z eGFR ≥30 ml/min/1,73 m² oraz badania obrazowe w celu wykrycia kamieni i nefrokalcynozy. Leczenie zależy od typu hiperoksalurii i stopnia zaawansowania choroby, obejmując farmakoterapię (m.in. lumasiran, nedosiran, pirydoksynę, cytrynian potasu), intensywne nawodnienie (generujące ≥3000 ml moczu/dobę) oraz modyfikacje dietetyczne, zwłaszcza ograniczenie pokarmów bogatych w szczawiany i suplementację wapnia w hiperoksalurii enteropatycznej. W przypadkach niewydolności nerek wskazana jest intensywna hemodializa, a w hiperoksalurii pierwotnej – przeszczep wątroby i nerki, który może zatrzymać nadprodukcję szczawianu i poprawić rokowanie.

Wprowadzenie do hiperoksalurii i oksalozy
Zespół opieki nad pacjentem z hiperoksalurią
Diagnostyka i monitorowanie hiperoksalurii

Wskaźniki niewydolności nerek

Leczenie hiperoksalurii i oksalozy

Podejście farmakologiczne
Znaczenie nawodnienia
Modyfikacje dietetyczne
Leczenie kamieni nerkowych
Dializoterapia i transplantacja

Wyzwania w opiece nad pacjentem z hiperoksalurią

Aspekty psychologiczne i emocjonalne
Znaczenie wsparcia i edukacji

Specjalistyczne ośrodki leczenia hiperoksalurii
Prognozy i perspektywy przyszłości

Kolejne rozdziały

Wprowadzenie do hiperoksalurii i oksalozy

Hiperoksaluria to stan, w którym w moczu występuje nadmierna ilość szczawianu (oksalatu). Szczawian jest naturalnym związkiem chemicznym w organizmie, występującym również w niektórych pokarmach. Nadmiar szczawianu w moczu może prowadzić do poważnych problemów zdrowotnych, ponieważ łączy się on z wapniem tworząc kryształy, które mogą formować kamienie nerkowe.¹² Długoterminowe zdrowie nerek pacjenta zależy od wczesnego rozpoznania hiperoksalurii i szybkiego wdrożenia odpowiedniego leczenia.¹

Hiperoksaluria może być spowodowana zmianą genetyczną (hiperoksaluria pierwotna), chorobą jelit (hiperoksaluria wtórna enteropatyczna) lub spożywaniem zbyt dużej ilości pokarmów bogatych w szczawiany (hiperoksaluria pokarmowa).¹² Najczęstszym typem kamieni nerkowych są kamienie szczawianowo-wapniowe, które tworzą się głównie z powodu zaburzenia równowagi między poziomem wapnia i szczawianu w organizmie lub braku odpowiednich inhibitorów krystalizacji.¹

Oksaloza natomiast występuje, gdy dochodzi do niewydolności nerek u osób z hiperoksalurią pierwotną lub enteropatyczną. Organizm nie może już usuwać nadmiaru szczawianu, który zaczyna się gromadzić. Najpierw kumuluje się we krwi, a następnie w oczach, kościach, skórze, mięśniach, naczyniach krwionośnych, sercu i innych narządach.¹² W późnych stadiach oksaloza może powodować liczne powikłania poza nerkami, w tym choroby kości, anemię, owrzodzenia skóry, problemy z sercem i oczami, a u dzieci – poważne problemy z rozwojem i wzrastaniem.¹²

Zespół opieki nad pacjentem z hiperoksalurią

Dobra opieka zdrowotna zawsze wymaga pracy zespołowej – szczególnie w przypadku osób żyjących z hiperoksalurią. Pacjent i jego rodzina są najważniejszymi członkami zespołu terapeutycznego. Mogą oni aktywnie uczestniczyć w procesie leczenia poprzez zdobywanie wiedzy i zaangażowanie w plan terapeutyczny. Ponieważ hiperoksaluria wpływa na każdego w inny sposób, ważne jest współdziałanie z każdym członkiem zespołu opieki zdrowotnej w celu stworzenia spersonalizowanego programu leczenia.¹

Utworzenie dobrze skoordynowanego zespołu opieki pomoże pacjentowi zarządzać różnymi fazami choroby.¹ Wielodyscyplinarny zespół specjalistów zarządzających opieką nad pacjentem jest kluczowym elementem w ośrodkach specjalizujących się w leczeniu hiperoksalurii.¹² W skład takiego zespołu wchodzą:

Nefrolog – specjalizujący się w chorobach nerek
Urolog – specjalista w zakresie leczenia problemów układu moczowego
Hepatolog – zajmujący się chorobami wątroby
Dietetyk – pomagający w dostosowaniu diety
Pielęgniarka dializacyjna – pomagająca pacjentom, którzy muszą przejść zabieg dializy, procesu usuwającego toksyny normalnie wydalane przez nerki
Pracownik socjalny – pomagający pacjentowi i jego rodzinie zrozumieć i radzić sobie z różnymi problemami związanymi z hiperoksalurią oraz z ewentualnymi skutkami ubocznymi przeszczepu¹

Diagnostyka i monitorowanie hiperoksalurii

Wczesna i dokładna diagnoza, a następnie agresywne leczenie wspomagające, odgrywa znaczącą rolę zarówno w krótko-, jak i długoterminowych wynikach leczenia.¹ Wszystkie młode osoby z kamicą nerkową powinny przejść badania kontrolne, które powinny obejmować test mierzący poziom szczawianu w moczu. Dorośli, u których regularnie występują kamienie nerkowe, również powinni być badani pod kątem obecności szczawianu w moczu.¹

Diagnostyka pacjentów z hiperoksalurią lub podejrzeniem hiperoksalurii pierwotnej (PH) wymaga kompleksowego badania fizykalnego, w tym wywiadu medycznego, rodzinnego oraz dotyczącego diety i przyjmowanych leków.¹ Proces diagnostyczny powinien obejmować przynajmniej dwa badania poziomu szczawianu w moczu (najlepiej z dobowej zbiórki moczu) u pacjentów z szacunkowym współczynnikiem filtracji kłębuszkowej (eGFR) ≥30ml/min/1,73m².¹

Regularne monitorowanie czynności nerek, poziomu szczawianu w moczu oraz badania obrazowe w celu wykrycia kamieni nerkowych lub nefrokalcynozy ma kluczowe znaczenie w zarządzaniu hiperoksalurią.¹ W przypadkach ciężkiej hiperoksalurii i u wszystkich dzieci z hiperoksalurią należy rozważyć badania przesiewowe w kierunku hiperoksalurii pierwotnej i enteropatycznej, stosownie do sytuacji.¹

Wskaźniki niewydolności nerek

Bez leczenia, hiperoksaluria pierwotna może uszkodzić nerki. Z czasem nerki mogą przestać pracować, co określa się jako niewydolność nerek. Dla niektórych osób jest to pierwszy objaw choroby.¹² Objawy niewydolności nerek obejmują:

Oddawanie mniejszej ilości moczu niż zwykle lub całkowity brak wydalania moczu
Obrzęk rąk i nóg
Uczucie zmęczenia i choroby
Utrata apetytu
Nudności i wymioty¹

Leczenie hiperoksalurii i oksalozy

Leczenie hiperoksalurii zależy od jej typu, objawów i stopnia ciężkości choroby. Odpowiedź pacjenta na leczenie również pomaga zespołowi opieki zdrowotnej zdecydować, jak dalej zarządzać jego stanem.¹² Celem leczenia jest obniżenie poziomu szczawianu w organizmie i zapobieganie tworzeniu się kryształów szczawianu wapnia w nerkach i innych tkankach.¹

Podejście farmakologiczne

Aby zmniejszyć ilość kryształów szczawianu wapnia tworzących się w nerkach, lekarz może zalecić jeden lub więcej z następujących leków:

Lumasiran (Oxlumo) – lek obniżający poziom szczawianu u dzieci i dorosłych z hiperoksalurią pierwotną.¹² Jest to zatwierdzony przez FDA lek z grupy terapeutyków interferencji RNA (RNAi), przeznaczony specjalnie do leczenia hiperoksalurii pierwotnej typu 1.¹
Nedosiran (Rivfloza) – kolejny lek dostępny dla osób żyjących z PH1, obniżający ilość szczawianu naturalnie wytwarzanego przez wątrobę.¹
Pirydoksyna (witamina B6) – powinna być suplementowana, aby pomóc pacjentom zmniejszyć hiperoksalurię, czasem znacząco. Było to szeroko badane w PH1. Aktywowana witamina B6 (fosforan 5-pirydoksalu) jest kofaktorem dla aminotransferazy alanino-glioksylowej (AGT) i uważa się, że zwiększa stabilność i skuteczność enzymu AGT.¹ Około 30% osób żyjących z PH1 może być w stanie obniżyć poziom szczawianu we krwi dzięki pirydoksynie.²
Cytrynian potasu – zapewnia odpowiedni poziom cytrynianów w moczu i utrzymuje pH moczu na korzystnym poziomie 6,2-6,8. Cytrynian sodu może być stosowany w przypadkach niewydolności nerek. Odpowiedni poziom cytrynianów w moczu (optymalnie 250-300 mg/l lub 500-600 mg dziennie w podzielonych dawkach) pomaga zapobiegać agregacji kryształów szczawianu wapnia w kamienie.¹
Cholestyramina – stosowana głównie w leczeniu zaburzeń wchłaniania kwasów żółciowych, zwiększa wiązanie szczawianu w jelitach i zmniejsza jego wchłanianie. Cholestyramina wiąże również bezpośrednio szczawian jelitowy i pomaga zmniejszyć biegunkę, co jest szczególnie przydatne w hiperoksalurii enteropatycznej.¹

Znaczenie nawodnienia

Jeśli nerki pacjenta nadal funkcjonują prawidłowo, lekarz prawdopodobnie zaleci zwiększenie ilości spożywanej wody lub innych płynów. Płukanie nerek zapobiega gromadzeniu się kryształów szczawianu i pomaga zapobiegać tworzeniu się kamieni nerkowych.¹ Hipernawodnienie (picie dużej ilości wody) jest ważne, aby pomóc wypłukać nagromadzenie szczawianu, które może powodować kamienie nerkowe. Zespół opieki zdrowotnej pomoże określić, ile wody pacjent potrzebuje w oparciu o wiek i wagę.¹

Większe spożycie płynów zwiększy objętość moczu i zmniejszy przesycenie szczawianem wapnia. Zaleca się, aby ilość przyjmowanych płynów była wystarczająca do generowania co najmniej 3000 ml moczu na dobę.¹ Ponadto, zaleca się dostosowanie podaży płynów w celu optymalizacji wydalania szczawianu z moczem, co określa się na podstawie analizy porannej próbki moczu.¹

Modyfikacje dietetyczne

Ogólnie rzecz biorąc, zwracanie uwagi na wybór pokarmów jest ważniejsze, jeśli pacjent ma hiperoksalurię enteropatyczną lub związaną z dietą. Zmiany w diecie mogą pomóc obniżyć poziom szczawianu w moczu.¹ Nadmiar szczawianu w pokarmach (np. szpinak, orzechy, rabarbar, produkty żurawinowe) może powodować hiperoksalurię.¹

Suplementacja wapniem jest zwykle korzystna i jest preferowaną początkową opcją leczenia dla większości pacjentów z hiperoksalurią enteropatyczną.¹ Chociaż randomizowane badania kontrolowane wykazały, że ograniczanie wapnia w diecie jest szkodliwe, korzystny wpływ suplementacji wapnia w ochronie przed kamieniami szczawianowymi jest mniej jasny.¹

Podsumowanie zaleceń dietetycznych dla hiperoksalurii wtórnej:

Dieta niskotłuszczowa, uboga w szczawiany
Unikanie nadmiernego spożycia mięsa, szpinaku, żurawin, jarmużu, rabarbaru i kapusty włoskiej, ponieważ mają one najwyższą zawartość szczawianu (choć rola składnika dietetycznego jest uważana za minimalną)
Ograniczenie nadmiaru witaminy C i witaminy D
Suplementacja pirydoksyny (witaminy B6)
Normalna/wysoka zawartość wapnia w diecie, aby zwiększyć wiązanie szczawianu w jelitach¹

Osoby z hiperoksalurią mogą zapobiegać tworzeniu się kamieni nerkowych, przestrzegając konkretnych zaleceń dietetycznych. Jeśli u pacjenta stwierdzi się wysoki poziom szczawianu w 24-godzinnym badaniu moczu, powinien on jeść mniej pokarmów bogatych w szczawiany, aby zapobiec kamieniom nerkowym. Należy jednak pamiętać, aby nie eliminować całkowicie tych pokarmów z diety.¹

Leczenie kamieni nerkowych

Kamienie nerkowe są powszechne u osób z hiperoksalurią, ale nie zawsze wymagają leczenia.¹ Małe kamienie nerkowe mogą być wydalane z moczem z niewielkim bólem lub bez bólu i mogą wymagać jedynie monitorowania za pomocą badań ultrasonograficznych w celu sprawdzenia ich lokalizacji.¹

Jeśli duże kamienie nerkowe powodują ból lub blokują przepływ moczu, może być konieczne ich usunięcie lub rozbicie, aby mogły przejść z moczem.¹² Leczenie kamieni nerkowych może być zachowawcze, z wykorzystaniem płynów i alfa-blokerów, lub chirurgiczne, jeśli kamień lub kamienie są większe niż 4 mm, nie mogą przejść lub dochodzi do powikłania w postaci infekcji.¹

Dializoterapia i transplantacja

W zależności od stopnia ciężkości hiperoksalurii, czynność nerek może z czasem ulec pogorszeniu. Zabieg zwany dializą, który przejmuje część pracy nerek, może pomóc.¹ Dializoterapia może być wskazana u pacjentów z hiperoksalurią pierwotną, którzy osiągnęli stadium 4-5 przewlekłej choroby nerek przed rozwinięciem się mocznicy, w zależności od potencjalnego ryzyka oksalozy systemowej.¹

Leczenie dializą jest jednak nieskuteczne w leczeniu nadmiaru szczawianu.¹ Dializa nie nadąża za ilością szczawianu produkowanego przez organizm.¹ Zaleca się intensywną hemodializę (HD) zamiast dializy otrzewnowej (PD), najlepiej z wykorzystaniem dializatora wysokoprzepływowego z maksymalnym przepływem krwi.¹

Przeszczep nerki lub wątroby i nerki może leczyć hiperoksalurię pierwotną.¹ Przeszczep wątroby jest jedynym leczeniem, które może wyleczyć niektóre typy hiperoksalurii pierwotnej.¹ Przeszczep wątroby i nerek przed utratą czynności nerek (tzw. wyprzedzający przeszczep wątroby) lub jednoczesny przeszczep wątroby i nerek w przypadku nieodwracalnego uszkodzenia nerek, jest leczeniem z wyboru w leczeniu choroby podstawowej i zahamowaniu nadprodukcji szczawianu.¹

U pacjentów z hiperoksalurią pierwotną i niewydolnością nerek, którzy przechodzą przeszczep nerki, jednoczesny przeszczep wątroby i nerki (CLKT) daje lepsze przeżycie przeszczepu nerki niż izolowany przeszczep nerki.¹ Natywną wątrobę należy usunąć podczas przeszczepu.²

Osoby z hiperoksalurią typu 1 mogą mieć zaoferowany połączony przeszczep wątroby i nerki, ponieważ nowa wątroba może zastąpić uszkodzone enzymy i zatrzymać nawrót hiperoksalurii w nowej nerce.¹

Wyzwania w opiece nad pacjentem z hiperoksalurią

Życie z hiperoksalurią pierwotną – rzadką chorobą genetyczną z nadmierną produkcją szczawianów prowadzącą do częstych kamieni nerkowych, uszkodzenia nerek i oksalozy – stanowi wiele wyzwań dla pacjentów, opiekunów i ich rodzin.¹

Opieka nad dzieckiem lub dorosłym z hiperoksalurią pierwotną jest niezwykłym obciążeniem dla rodziny ze względu na intensywność wymaganej opieki medycznej i związane z tym trudności finansowe. W przypadku pacjentów z zachowaną czynnością nerek leczenie jest ukierunkowane na zmniejszenie tworzenia się kamieni i zapobieganie dalszemu uszkodzeniu nerek poprzez znaczne spożycie płynów i wielokrotne dawki leków dziennie.¹

Małe dzieci mogą wymagać założenia sondy żołądkowej, aby utrzymać wystarczające spożycie płynów, podczas gdy starsze dzieci i dorośli doświadczają przerw w nauce i pracy oraz utraty snu. Pacjenci konsekwentnie wymieniają ataki kamicy nerkowej i interwencje urologiczne jako główny problem.¹

Aspekty psychologiczne i emocjonalne

Prawie połowa (47%) respondentów badań wymienia niepokój związany z potencjalną niewydolnością nerek.¹ Konsekwencje niewydolności nerek mogą być szczególnie poważne w hiperoksalurii pierwotnej, ponieważ poziom szczawianu w osoczu gwałtownie wzrasta, prowadząc do oksalozy.¹

Pacjenci obawiają się progresji do oksalozy i martwią się związanymi z nią złamaniami kości, anemią, niewydolnością serca, uszkodzeniem stawów, owrzodzeniami skóry, silnym osłabieniem, zaburzeniami widzenia i neuropatią.¹

Wpływ psychologiczny i stres emocjonalny wynikający z diagnozy i zarządzania chorobą to wspólny temat wyrażany przez pacjentów.¹ Życie z hiperoksalurią pierwotną może być fizycznie i emocjonalnie trudne dla pacjenta i/lub bliskiej osoby.¹

Znaczenie wsparcia i edukacji

Posiadanie osób, do których można się zwrócić o wsparcie, może być dużą pomocą podczas życia z hiperoksalurią lub opiekowania się osobą żyjącą z tą chorobą.¹ Pacjenci, którzy mają dobry system wsparcia, zazwyczaj osiągają lepsze wyniki. Wielu pacjentów i opiekunów stwierdza, że poszukiwanie innych osób żyjących z hiperoksalurią może być zarówno pomocne, jak i terapeutyczne.¹

Fundacja Oxalosis Hyperoxaluria Foundation (OHF) ułatwia rozwój obiecujących nowych leków, a opracowywane leki pozwalają śledzić postępy tych potencjalnych terapii. Prawie każdy lek na hiperoksalurię będący przedmiotem badań powstał dzięki wsparciu OHF i jej bieżącej pracy z badaczami.¹

OHF została założona w 1989 roku, aby poszukiwać przyczyny, poprawić opiekę i leczenie oraz odkryć lekarstwo na oksalozę, hiperoksalurię pierwotną i enteropatyczną oraz powiązane schorzenia kamicy szczawianowej. OHF pomaga edukować i zapewnia wsparcie pacjentom, specjalistom i społeczeństwu, aby lepiej zrozumieć oksalozę, hiperoksalurię pierwotną i enteropatyczną oraz powiązane choroby kamicy szczawianowej.¹

Specjalistyczne ośrodki leczenia hiperoksalurii

W odpowiedzi na postępy w leczeniu hiperoksalurii, członkowie OxalEurope – sieci europejskich naukowców i lekarzy specjalizujących się w hiperoksalurii pierwotnej – oraz grupa robocza ds. metabolicznych Europejskiej Sieci Referencyjnej Rzadkich Chorób Nerek (ERKNet), utworzyli grupę roboczą. Ich celem było zaktualizowanie wytycznych z 2012 roku i sformułowanie nowych zaleceń dotyczących praktyki klinicznej dla podejścia diagnostycznego do pacjentów z podejrzeniem hiperoksalurii pierwotnej oraz zarządzania wszystkimi typami hiperoksalurii pierwotnej z różnymi stadiami dysfunkcji nerek.¹

Te zalecenia dotyczące praktyki klinicznej zostały opracowane, aby zapewnić wskazówki dla pracowników służby zdrowia dotyczące diagnozy i postępowania z dziećmi i dorosłymi, u których podejrzewa się lub zdiagnozowano hiperoksalurię pierwotną, na podstawie dostępnych dowodów z badań i opinii ekspertów w tej dziedzinie.¹

Uniwersytet Alabama w Birmingham (UAB) został niedawno wyznaczony jako Centrum Opieki OHF za doskonałość w badaniach i opiece klinicznej nad rzadką chorobą kamieni nerkowych. To oznaczenie potwierdza rolę UAB jako międzynarodowego centrum badawczego i wielodyscyplinarnego ośrodka klinicznego skupiającego się na hiperoksalurii pierwotnej i innych rzadkich chorobach kamieni nerkowych.¹

UAB prowadzi pionierskie badania nad szczawianami, jednocześnie konsekwentnie powiększając zespół ekspertów na przestrzeni lat. Badania prowadzone na UAB przyczyniły się do opracowania nowych leków zatwierdzonych przez FDA dla pacjentów z hiperoksalurią pierwotną, które zmieniły ścieżki opieki nad pacjentami, aby zapobiec konieczności przeszczepów u większej liczby z nich.¹

Prognozy i perspektywy przyszłości

Rokowanie pacjentów z hiperoksalurią enteropatyczną i łagodną jest korzystne, jeśli przestrzegane są zasady leczenia zachowawczego i modyfikacje diety. Okresowe ponowne badania z wykorzystaniem 24-godzinnej oceny moczu powinny być przeprowadzane regularnie w celu monitorowania zgodności i skuteczności leczenia.¹

Ze względu na rzadkość choroby i jej heterogenność genetyczną i kliniczną, nie jest możliwe uzyskanie dowodów poprzez randomizowane badania kliniczne.¹ W związku z tym, grupa europejskich ekspertów (OxalEurope) opracowała zalecenia dotyczące diagnozy i leczenia, które zostały opublikowane w 2012 roku.¹

Rodziny desperacko poszukują nowych opcji leczenia, aby zmniejszyć częstość występowania kamieni nerkowych, potrzebę przeszczepu narządów, niewydolność nerek i oksalozę.¹ Ciągłe badania nad terapią genową, terapią zastępczą enzymów i innowacyjnymi podejściami farmakologicznymi są obiecujące w osiągnięciu ostatecznego wyleczenia w przyszłości.¹

Podsumowując, życie z hiperoksalurią pierwotną stanowi wiele fizycznych, emocjonalnych i finansowych wyzwań dla pacjentów, opiekunów i ich rodzin. Ich głosy wyrażają głęboki wpływ tej choroby na jakość życia.¹

Kolejne rozdziały

Zapraszamy do dalszego czytania naszego leksykonu.

Wybierz kolejny rozdział z menu poniżej, aby otworzyć nową podstronę kompedium wiedzy i uzyskać szczegółowe informację o leku, substancji lub chorobie.

Materiały źródłowe

#1 Hyperoxaluria and oxalosis
https://www.mymlc.com/health-information/diseases-and-conditions/h/hyperoxaluria-and-oxalosis/?section=Symptoms
Hyperoxaluria occurs when you have too much oxalate in your urine. Oxalate is a natural chemical in your body, and it’s also found in certain types of food. But too much oxalate in your urine can cause serious problems. […] The long-term health of your kidneys depends on early diagnosis and prompt treatment of hyperoxaluria. […] 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. […] 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.
#1 Our Vision… Working together, to end Hyperoxaluria
https://ohf.org/
Hyperoxaluria can be caused by a genetic disorder, eating too many oxalate-rich foods or an intestinal disease. Early diagnosis and treatment are important to the long-term health of your kidneys. […] OHF puts patient first, working tirelessly to accelerate research, improve access and quality of care and empower those living with hyperoxaluria. We wont stop until the cure is found.
#1 Hyperoxaluria – StatPearls – NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/NBK558987/
The most common type of kidney stone, calcium oxalate, is formed primarily due to an imbalance between calcium and oxalate levels in the body or a lack of adequate crystallization inhibitors. Hyperoxaluria is a significant contributor to nephrolithiasis, and the causes of excess urinary oxalate can be classified based on etiology into primary and secondary hyperoxaluria. […] Therefore, clinicians caring for these patients should become familiar with the available testing and treatments for hyperoxaluria and endpoints to measure therapy effectiveness. […] The acute management of renal calculi has been well-studied and standardized. It is necessary to understand when to evaluate a patient further for an underlying cause of the calculi. This evaluative process improves the patient’s quality of life and prevents or delays recurrences and other complications of hyperoxaluria. In general, clinicians should offer 24-hour urine testing and preventive therapy to every nephrolithiasis patient, especially those who are strongly motivated to follow a long-term course of preventive therapy.
#1 Hyperoxaluria and oxalosis | UM Health-Sparrow
https://www.uofmhealthsparrow.org/departments-conditions/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. The long-term health of your kidneys depends on finding hyperoxaluria early and getting it treated quickly. […] 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. […] Treatment depends on the type of hyperoxaluria you have, the symptoms and how serious the disease is. How well you respond to treatment also helps your health care team decide how else to manage your condition. […] To lower the amount of calcium oxalate crystals that form in your kidneys, your doctor may suggest one or more of these treatments: Medicine. Lumasiran (Oxlumo) is a medicine that lowers the level of oxalate in children and adults with primary hyperoxaluria.
#1 Hyperoxaluria and oxalosis – Symptoms and causes – Mayo Clinic
https://www.mayoclinic.org/diseases-conditions/hyperoxaluria/symptoms-causes/syc-20352254
Hyperoxaluria and oxalosis care at Mayo Clinic […] 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. […] 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 Living with Hyperoxaluria | OHF
https://ohf.org/living-with-hyperoxaluria/
Good health care is always a team effortespecially for people living with Hyperoxaluria. You and your family are the most important members of the care team. You can take an active role in your care by learning all you can and taking part in your treatment plan. Since Hyperoxaluria affects everyone differently, it is important to work with each member of the health care team to create a personalized management program. […] Establishing a well-coordinated care team will help you manage different phases that may evolve. […] Dialysis Nurse specialize in helping patients who must undergo dialysis treatment, a process that removes toxins normally excreted by the kidneys. They help educate about self-care choices that allows you to live as full a life as possible. […] Social Worker help the patient and their family understand and cope with a variety of issues associated with a Hyperoxaluria and the various side-effects of a transplant if needed.
#1 UAB named OHF Care Center for excellence in rare kidney stone disease research and clinical care – UAB News
https://www.uab.edu/news/health-medicine/uab-named-ohf-care-center-for-excellence-in-rare-kidney-stone-disease-research-and-clinical-care
Research at UAB helped lead to the development of new FDA-approved drugs for patients with primary hyperoxaluria that have changed patients care pathways to prevent more of them from needing transplants. […] In addition to offering a strong research component, OHF Care Centers are recognized for having a multidisciplinary team of experts managing a patients care. […] I think now with the designation, it really puts an emphasis on our continuing to create a robust multidisciplinary team. […] UABs primary hyperoxaluria team aims to continue to address the needs of patients living with the disease from various perspectives. […] We’re trying to get answers to questions for these individuals that nobody else is doing across the country, and we’re doing it here.
#1 What Is Primary Hyperoxaluria Type 1 (PH1)? Life Expectancy
https://www.medicinenet.com/what_is_primary_hyperoxaluria_type_1_ph1/article.htm
The treatment of choice for patients with PH1 is hyperhydration and intensive dialysis with or without organ transplantation and supportive/symptomatic care. Other significant organs that can be affected by calcium oxalate deposits should be routinely monitored in people with PH1. […] The only method for curing patients with primary hyperoxaluria type 1 (PH1) is an organ transplant. However, it is not recommended for everyone. To try and slow the disease’s progression, supportive measures can be implemented. […] An early and accurate diagnosis, followed by aggressive supportive treatment, plays a significant role in both short- and long-term outcomes. […] 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 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. […] All young people with kidney stones should have a checkup. The checkup should include a test that measures oxalate in the urine. Adults who keep getting kidney stones also should be tested for oxalate in the urine. […] 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. […] 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.
#1 Primary Hyperoxaluria – Rare Kidney Stone Consortium
https://www.rarekidneystones.org/hyperoxaluria/
If PH is confirmed, treatments may include one or more of the following: high fluid intake, medications, diet modifications, kidney stone management. If there has been loss of kidney function, dialysis, kidney transplant, or liver transplant may be needed. […] Hyperoxaluria may first appear any time from birth to adulthood, and symptoms can range from mild to severe. The first sign of hyperoxaluria is typically kidney stones. […] Primary hyperoxaluria that goes untreated may cause the kidneys to eventually be damaged and may stop working. […] Patients will hyperoxaluria or suspected of having PH will need a comprehensive physical exam, including a medical history, family history, and diet and medication history. […] Treatments for PH patients are individualized. Each patient is placed on a treatment program according to the type and severity of his/her disease.
#1 Clinical practice recommendations for primary hyperoxaluria: anÂ expert consensus statement from ERKNet and OxalEurope | Nature Reviews Nephrology
https://www.nature.com/articles/s41581-022-00661-1
These clinical practice recommendations have been developed to provide guidance to health-care professionals for the diagnosis and management of children and adults who are suspected to have, or are diagnosed with, PH, on the basis of the available evidence from studies and the opinions of experts in the field. […] We outline 48 statements that summarize our recommendations for the management of PH and outline the rationale for each of these in the separate sections. […] We further provide indications for RNAi therapy and recommendations for monitoring patients while on RNAi therapy and an algorithm for the management of patients with or suspected to have PH. […] The diagnostic work-up for patients with estimated glomerular filtration rate (eGFR) 30ml/min/1.73m2 and suspected primary hyperoxaluria (PH) should include at least two urine oxalate assessments (preferably from a 24h urine collection).
#1 New Primary hyperoxaluria type 1 (PH1) treatments 2025 | Everyone.org
https://everyone.org/explore/treatment/?id=81
Dietary modifications play a supportive role in managing PH1. […] Nonetheless, dietary counseling and nutritional support remain important adjunctive measures in comprehensive patient care. […] Regular monitoring of renal function, urinary oxalate levels, and imaging studies to detect kidney stones or nephrocalcinosis is essential in managing PH1. […] Multidisciplinary care involving nephrologists, hepatologists, dietitians, genetic counselors, and mental health professionals ensures comprehensive management tailored to individual patient needs. […] In summary, while no definitive cure currently exists for Primary Hyperoxaluria Type 1, significant progress has been made in developing effective treatments aimed at managing symptoms, reducing complications, and improving patient outcomes. […] Continued research into gene therapy, enzyme replacement therapy, and innovative pharmacological approaches holds promise for achieving a definitive cure in the future.
#1 Hyperoxaluria – StatPearls – NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/NBK558987/
Cholestyramine is primarily used to manage bile acid malabsorption, increasing intestinal oxalate binding and reducing absorption. Cholestyramine will also bind intestinal oxalate directly and help reduce diarrhea, which is particularly useful in enteric hyperoxaluria. […] Summary of Treatments for Secondary Hyperoxaluria: Low fat, low oxalate diet. Avoid excessive meat intake, spinach, cranberries, kale, rhubarb, and collard greens, as these have the highest oxalate content (although the role of dietary contribution is thought to be minimal). Limit excess vitamin C and vitamin D. Pyridoxine (vitamin B6) supplementation. Normal/high calcium diet to increase intestinal oxalate binding. […] In cases of severe hyperoxaluria and all children with hyperoxaluria, consider screening for primary and enteric hyperoxaluria as appropriate. Optimize all other urinary chemical components (calcium, citrate, uric acid) that may promote renal stone formation.
#1 Hyperoxaluria and oxalosis – Diagnosis and treatment – Mayo Clinic
https://www.mayoclinic.org/diseases-conditions/hyperoxaluria/diagnosis-treatment/drc-20352258
Our caring team of Mayo Clinic experts can help you with your hyperoxaluria and oxalosis-related health concerns. […] Treatment depends on the type of hyperoxaluria you have, the symptoms and how serious the disease is. How well you respond to treatment also helps your health care team decide how else to manage your condition. […] To lower the amount of calcium oxalate crystals that form in your kidneys, your doctor may suggest one or more of these treatments: […] If large kidney stones cause pain or block urine flow, you may need to have them removed or broken up so they can pass in the urine. […] Depending on how serious your hyperoxaluria is, your kidneys may work less well over time. A treatment called dialysis that takes over some of the work of your kidneys may help. But it doesn’t keep up with the amount of oxalate your body makes. A kidney transplant or kidney and liver transplant can treat primary hyperoxaluria. A liver transplant is the only treatment that might cure some types of primary hyperoxaluria.
#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. The goal of treatment is to lower oxalate levels in your body and prevent calcium oxalate crystals from forming. […] Getting treatment for hyperoxaluria can help reduce the chances of long-term kidney damage. […] The goal of treatment is to lower the level of oxalate in your body and prevent calcium oxalate crystals from forming in your kidneys and other body tissues. Treatments could involve medication, lifestyle and dietary changes, and managing kidney stones. Your healthcare provider will recommend the best treatment based on the type of hyperoxaluria you have, your symptoms and how severe your condition is. […] If you receive a diagnosis of enteric or dietary hyperoxaluria, you should follow your healthcare providers treatment plan to reduce complications from the condition. […] Its critical for people living with hyperoxaluria to follow their providers treatment plan and have regular exams with their urologist or primary care provider.
#1 New Primary hyperoxaluria type 1 (PH1) treatments 2025 | Everyone.org
https://everyone.org/explore/treatment/?id=81
Pyridoxine, also known as vitamin B6, is frequently administered in PH1 patients due to its role as a cofactor for the enzyme alanine:glyoxylate aminotransferase (AGT), which is deficient or dysfunctional in PH1. […] Patients responsive to pyridoxine may experience significant reductions in urinary oxalate levels, thereby reducing the risk of kidney damage. […] Oxlumo (lumasiran) is an FDA-approved RNA interference (RNAi) therapeutic specifically indicated for the treatment of Primary Hyperoxaluria Type 1. […] Common side effects include injection site reactions, headache, and abdominal discomfort, though the medication is generally well tolerated. […] For patients with severe PH1 and progressive kidney damage, organ transplantation remains a definitive treatment option. […] Transplantation procedures carry inherent risks, including rejection, infection, and complications related to immunosuppressive therapy, but they offer the potential for long-term resolution of PH1 symptoms and improved quality of life.
#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 goal of treatment for PH1 is to stop oxalate from building up in your kidneys and blood vessels. This can also help keep your kidneys healthy for as long as possible. […] All people living with PH1 need to remember to drink enough fluids each day. […] About 30% of people living with PH1 may be able to lower their blood oxalate levels with the help of pyridoxine (vitamin B6). […] Two medications are available for people living with PH1 to lower the amount of oxalate naturally made by your liver: Lumasiran (Oxlumo) and Nedosiran (Rivfloza). […] Urine that has too much acid increases the risk of oxalate combining with calcium to form a kidney stone and/or block the blood vessels in your kidneys.
#1 Hyperoxaluria – StatPearls – NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/NBK558987/
Urinary Citrate and Alkalinization: Potassium citrate provides adequate urinary citrate levels and keeps the urine pH at a favorable 6.2 to 6.8. Sodium citrate can be used in cases of renal failure. Adequate urinary citrate levels (optimally at 250 to 300 mg/L or 500 to 600 mg daily total in divided doses) help prevent the aggregation of calcium oxalate crystals into stones. […] Dietary Measures: Dietary modifications in secondary hyperoxaluria are useful and easily applied. Although randomized controlled trials have proven that restricting dietary calcium is detrimental, the beneficial effect of calcium supplementation in protecting against oxalate stones is less clear. […] Pyridoxine: Pyridoxine (vitamin B6) should be supplemented to help patients reduce their hyperoxaluria, sometimes significantly. This has been studied extensively in type I PH. Activated vitamin B6 pyridoxal 5-phosphate is a cofactor for alanine-glyoxylate aminotransferase (AGT) and is thought to increase the stability and effectiveness of the AGT enzyme.
#1 Hyperoxaluria and oxalosis // Middlesex Health
https://middlesexhealth.org/learning-center/diseases-and-conditions/hyperoxaluria-and-oxalosis
If your kidneys still work well, your doctor will likely tell you to drink more water or other fluids. This flushes the kidneys, prevents oxalate crystal buildup and helps keep kidney stones from forming. […] In general, it’s more important to pay attention to your food choices if you have enteric or diet-related hyperoxaluria. Diet changes may help lower the levels of oxalate in your urine. […] Kidney stones are common in people with hyperoxaluria, but they don’t always need to be treated. If large kidney stones cause pain or block urine flow, you may need to have them removed or broken up so they can pass in the urine. […] Depending on how serious your hyperoxaluria is, your kidneys may work less well over time. A treatment called dialysis that takes over some of the work of your kidneys may help. […] A kidney transplant or kidney and liver transplant can treat primary hyperoxaluria. A liver transplant is the only treatment that might cure some types of primary hyperoxaluria.
#1 Living with Hyperoxaluria | OHF
https://ohf.org/living-with-hyperoxaluria/
Hyperhydration (drinking lots of water) is important to help flush out the buildup of oxalate that can cause kidney stones. Your care team will help figure out how much water you need based on age and weight. […] Patients who have a good support system tend to have better outcomes. Many patients and caregivers have said, seeking out others who are living with hyperoxaluria can be both helpful and therapeutic. By joining the OHF community, you can connect with other families dealing with the same issues you are facing. […] The Oxalosis Hyperoxaluria Foundation facilitates the development of promising new drugs, and the drug development pipeline enables you to track the progress of these potential therapies. Nearly every hyperoxaluria drug being investigated was made possible because of the OHFs support and its ongoing work with researchers.
#1 Hyperoxaluria – StatPearls – NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/NBK558987/
Unfortunately, an effective and specific treatment for this potential nephrotoxin is currently lacking. Therefore, clinicians caring for these patients should become familiar with the available diagnostic testing and treatments for hyperoxaluria and endpoints to measure therapy effectiveness. […] Treatment of a patient with hyperoxaluria includes conservative medical and surgical measures, along with the treatment of nephrolithiasis. Isolated renal stone treatment can be conservative, using fluids and alpha-blockers, or surgical if the stone or stones are larger than 4 mm, fail to pass, or become complicated by infection. […] Fluid Intake: A greater fluid intake will increase urine volume and reduce the supersaturation of calcium oxalate. Measuring and focusing on urinary volume rather than any particular oral intake goal is preferable. It is recommended that the oral intake should be sufficient to generate at least 3000 ml of urine per day.
#1 Clinical practice recommendations for primary hyperoxaluria: anÂ expert consensus statement from ERKNet and OxalEurope | Nature Reviews Nephrology
https://www.nature.com/articles/s41581-022-00661-1
If genetic assessment reveals a mutation consistent with vitamin B6 (VB6; also known as pyridoxine) non-responsive PH1, RNA interference (RNAi) therapy is indicated. […] We recommend adapting fluid management to optimize urinary oxalate excretion as determined by a morning spot urine analysis. […] We recommend starting pyridoxine supplementation in all patients suspected to have PH and in all patients with genetically proven PH1. […] Dialysis treatment may be indicated in patients with PH who have progressed to stage 45 CKD before the development of uraemia, depending on the potential risk of systemic oxalosis. […] Liver transplantation remains the only cure for PH1. […] The native liver should be removed at transplantation. […] For patients with PH and kidney failure who undergo kidney transplantation, combined liver and kidney transplantation (CLKT) results in better kidney graft survival than isolated kidney transplantation.
#1 Hyperoxaluria: Practice Essentials, Oxalate Production and Function, Pathophysiology and Etiology
https://emedicine.medscape.com/article/444683-overview
Patients with primary hyperoxaluria usually present with a urinary oxalate level in excess of 100 mg/d. Early medical treatment is required to decrease the oxalate level and to prevent deterioration of renal function. Early liver-kidney transplantation is often required for definitive cure. […] Calcium supplementation is usually beneficial and is the preferred initial treatment option for most patients with enteric hyperoxaluria. […] Increased fluid intake to expand urinary volume is also recommended, not only to restore fluid lost through the digestive tract but also to act as a dilutional inhibitor of crystal and stone formation. […] Dietary oxalate restrictions are of no substantial benefit in this type of hyperoxaluric disease. Several medications have been useful. […] Dietary excess of oxalate-containing foods (eg, spinach, nuts, rhubarb, cranberry products) can cause hyperoxaluria. Dietary excess of vitamin C can also increase oxalate absorption and excretion, although the degree and importance of vitamin C in the development of calcium oxalate stone disease is somewhat controversial. […] All forms of hyperoxaluria are associated with recurrent urolithiasis.
#1 Advice for People with Hyperoxaluria
https://mydoctor.kaiserpermanente.org/mas/article/advice-for-people-with-hyperoxaluria-1609997
People with hyperoxaluria can help prevent future kidney stones by following specific diet recommendations. […] If you have high oxalate in your 24-hour urine test, eat fewer foods high in oxalate to prevent kidney stones. However, donât completely eliminate these foods from your diet. […] You can prevent your body from absorbing foods high in oxalate by: Adding foods that contain calcium (yogurt, milk, and cheese) to your meals. Drinking a lot of fluids, especially water. […] Follow a low-oxalate diet to reduce your risk of kidney stones or recurrent kidney stones.
#1 Hyperoxaluria | Kidney Care UK
https://kidneycareuk.org/kidney-disease-information/kidney-conditions/hyperoxaluria/
Hyperoxaluria is a different condition to secondary hyperoxaluria, which occurs alongside other conditions such as Crohns disease or pancreatitis. […] Hyperoxaluria occurs due to a build-up of a salt-like substance called oxalate. […] When hyperoxaluria damages the kidneys, oxalate also starts to build up in other parts of the body, including the bones, skin, liver and heart. This is known as systemic oxalosis. […] Hyperoxaluria is a genetic condition so it can run in families. […] A new medication called lumasiran has recently been approved to treat hyperoxaluria type 1. […] People with all types of hyperoxaluria are advised to drink lots of liquid (at least three litres a day). […] Dietary changes may be recommended to avoid foods that high in oxalate. […] Small kidney stones can be passed in the urine with little or no pain and may just require monitoring with ultrasound scans to check their location.
#1 Primary hyperoxaluria | NefrologÃa
https://revistanefrologia.com/en-primary-hyperoxaluria-articulo-X2013251414054186
Primary hyperoxaluria (PH) occurs due to an autosomal recessive hereditary disorder of the metabolism of glyoxylate, which causes excessive oxalate production. […] As oxalate is not metabolised in humans and is excreted through the kidneys, the kidney is the first organ affected, causing recurrent lithiasis, nephrocalcinosis and early renal failure. […] With advance of renal failure, particularly in patients on haemodialysis (HD), calcium oxalate is massively deposited in tissues, which is known as oxalosis. […] Conservative management of this disease (high liquid intake, pyridoxine and crystallisation inhibitors) needs to be adopted early in order to delay kidney damage. […] Treatment by dialysis is ineffective in treating excess oxalate. […] After the kidney transplant, we normally observe a rapid appearance of oxalate deposits in the graft and the results of this technique are discouraging, with very few exceptions.
#1 Hyperoxaluria and oxalosis | UM Health-Sparrow
https://www.uofmhealthsparrow.org/departments-conditions/conditions/hyperoxaluria-and-oxalosis
If large kidney stones cause pain or block urine flow, you may need to have them removed or broken up so they can pass in the urine. […] Depending on how serious your hyperoxaluria is, your kidneys may work less well over time. A treatment called dialysis that takes over some of the work of your kidneys may help. But it doesn’t keep up with the amount of oxalate your body makes. A kidney transplant or kidney and liver transplant can treat primary hyperoxaluria. A liver transplant is the only treatment that might cure some types of primary hyperoxaluria.
#1 Clinical practice recommendations for primary hyperoxaluria: anÂ expert consensus statement from ERKNet and OxalEurope | Nature Reviews Nephrology
https://www.nature.com/articles/s41581-022-00661-1
We recommend intensive HD over PD, preferably using a high-flux dialyser with maximal blood flow. […] Hyperhydration should be continued at all times in the peri-operative period of any urological or other surgical procedure, which also implies that any form of pre-operative liquid fasting should be avoided.
#1 Primary hyperoxaluria | NefrologÃa
https://revistanefrologia.com/en-primary-hyperoxaluria-articulo-X2013251414054186
Pre-emptive liver transplantation, or simultaneous liver and kidney transplants when there is already irreversible damage to the kidney, is the treatment of choice to treat the underlying disease and suppress oxalate overproduction. […] Given its condition as a rare disease and its genetic and clinical heterogeneity, it is not possible to gain evidence through randomised clinical trials. […] In this regard, a group of European experts (OxalEurope) has drawn up recommendations for diagnosis and treatment, which were published in 2012.
#1 Hyperoxaluria | Kidney Care UK
https://kidneycareuk.org/kidney-disease-information/kidney-conditions/hyperoxaluria/
Kidney function can decline very quickly, especially in children. If kidney failure develops, dialysis and/or a transplant may be needed. […] People with hyperoxaluria type 1 may be offered a combined liver and kidney transplant as the new liver can replace the damaged enzymes and stop hyperoxaluria from reoccurring in the new kidney.
#1 Primary Hyperoxaluria
https://pmc.ncbi.nlm.nih.gov/articles/PMC7341774/
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. […] Care for any child or adult with primary hyperoxaluria is an unusual strain to the family due to intensity of required medical care and associated financial hardship. […] For patients with preserved kidney function, treatments are directed at reducing stone formation and preventing further kidney injury with significant fluid intake and multiple daily doses of medications. […] Young children may require a gastrostomy tube to maintain sufficient fluid intake, whereas older children and adults experience interruptions in school and work, and loss of sleep. […] Patients consistently ranked kidney-stone attacks and urologic interventions as a top concern.
#1 Primary Hyperoxaluria
https://pmc.ncbi.nlm.nih.gov/articles/PMC7341774/
Almost half (47%) of survey respondents listed anxiety associated with the potential for kidney failure. […] 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. […] Transplantation can be lifesaving, although complicated by features specific to primary hyperoxaluria. […] The psychologic effect and emotional stress resulting from diagnosis and disease management is a common theme expressed by patients. […] Families desperately seek new treatment options to reduce the frequency of kidney stones, the need for organ transplantation, kidney failure, and oxalosis.
#1 Primary Hyperoxaluria Type 1 | National Kidney Foundation
https://www.kidney.org/kidney-topics/primary-hyperoxaluria-type-1
It is important to avoid high amounts of vitamin C if you have 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. […] Kidney transplantation is another treatment option for people living with PH1 and advanced stages of chronic kidney disease (stage 4 or 5 CKD). […] Living with PH1 can be physically and emotionally challenging for you and/or a loved one. […] Having people to turn to for support can be a great help while living with or caring for a person living with PH1.
#1 Oxalosis and Hyperoxaluria Foundation Reviews and Ratings | New Paltz, NY | Donate, Volunteer, Review | GreatNonprofits
https://greatnonprofits.org/org/oxalosis-and-hyperoxaluria-foundation
The OHF was founded in 1989 to seek the cause, improve the care and treatment and discover a cure for Oxalosis, Primary and Enteric Hyperoxaluria and related hyperoxaluria stone conditions. […] The OHF helps educate and provides support to patients, professionals and the public to better understand Oxalosis, Primary and Enteric Hyperoxaluria and related hyperoxaluria stone disease. […] OHF has been a constant source of support, information and reassurance over the last 8 years. […] The OHF is an amazing organization that provides me with information and guidance when my daughter first diagnosed with PH1. […] The OHF is the ONLY foundation in the world dedicated to finding a cure for Oxalosis and Hyperoxaluria. […] The OHF provides patient, public and professional education and has funded millions of dollars in research.
#1 Clinical practice recommendations for primary hyperoxaluria: anÂ 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. […] Management of patients with PH and kidney failure is also extremely challenging. […] In response to these developments, members of OxalEurope a network of European scientists and physicians who specialize in PH and the metabolic workgroup of the European Rare Kidney Disease Reference Network (ERKNet), formed a workgroup. Our goal was to update the 2012 guidelines and formulate new clinical practice recommendations for the diagnostic approach to patients with a suspicion of PH and the management of all types of PH with various stages of kidney dysfunction.
#1 UAB named OHF Care Center for excellence in rare kidney stone disease research and clinical care – UAB News
https://www.uab.edu/news/health-medicine/uab-named-ohf-care-center-for-excellence-in-rare-kidney-stone-disease-research-and-clinical-care
UAB has recently been named an OHF Care Center for excellence in research and clinical care for rare kidney stone disease. […] This designation marks UABs recognition as an international research hub and multidisciplinary clinical site focusing on primary hyperoxaluria and other rare kidney stone diseases. […] According to Kyle Wood, M.D., associate professor in the UAB Department of Urology and co-chair of the OHF, UAB has been pioneering oxalate research for some time while consistently growing its team of experts over the years. […] The OHF really wanted to expand beyond the Mayo Clinic to identify other centers throughout the United States and also internationally that could serve as centers for excellence. […] We can provide care from UAB to the entire Southeast if not a larger area for any individual whos diagnosed with a rare kidney stone disease, including primary hyperoxaluria.
#1 Hyperoxaluria: Practice Essentials, Oxalate Production and Function, Pathophysiology and Etiology
https://emedicine.medscape.com/article/444683-overview
Hyperoxaluria that is, elevated urinary excretion of the metabolic end product oxalate can contribute to kidney stone formation and other health problems. The normal upper level of urinary oxalate excretion is 40 mg (440 mol) in 24 hours. […] Treatment depends to some extent on the underlying etiology and severity of the hyperoxaluria. However, many treatments (eg, dietary measures) can be used in any case of hyperoxaluria, and treatments can be combined for increased efficacy. […] The prognosis of patients with enteric and mild hyperoxaluria is favorable if medical management and dietary modifications are followed. Periodic retesting using 24-hour urine assessments should be performed regularly to monitor compliance and treatment effectiveness. […] Treatment of hyperoxaluria depends somewhat on the underlying etiology and severity of the hyperoxaluria. Many of the treatments mentioned can be used in any case of hyperoxaluria, and they can be combined for increased efficacy.
#1 Primary hyperoxaluria | NefrologÃa
http://www.revistanefrologia.com/en-relaccionados-primary-hyperoxaluria-articulo-X2013251414054186
Given its condition as a rare disease and its genetic and clinical heterogeneity, it is not possible to gain evidence through randomised clinical trials. […] In this regard, a group of European experts (OxalEurope) has drawn up recommendations for diagnosis and treatment, which were published in 2012.
#1
https://journals.lww.com/cjasn/fulltext/2020/07000/primary_hyperoxaluria__the_patient_and_caregiver.2.aspx
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. […] Transplantation can be lifesaving, although complicated by features specific to primary hyperoxaluria. […] The psychologic effect and emotional stress resulting from diagnosis and disease management is a common theme expressed by patients. […] In summary, living with primary hyperoxaluria presents many physical, emotional, and financial challenges to patients, caregivers, and their families. Their voices express the profound effect of this disease on quality of life. Families desperately seek new treatment options to reduce the frequency of kidney stones, the need for organ transplantation, kidney failure, and oxalosis.
#2 Primary Hyperoxaluria – Rare Kidney Stone Consortium
https://www.rarekidneystones.org/hyperoxaluria/
Hyperoxaluria is a condition where too much of a substance called oxalate is present in the urine. Increased oxalate in the urine can come from eating too much oxalate in foods, from over-absorption of oxalate by the intestines due to certain diseases (called enteric hyperoxaluria), or to overproduction of oxalate in the body. […] A person with hyperoxaluria has an overabundance of oxalate in the urine. The excess oxalate then binds with calcium in the urine to form kidney stones. […] The main causes of hyperoxaluria are: Dietary hyperoxaluria: Eating a diet of high oxalate content foods can cause high levels of oxalate in the urine. Generally, if diet changes are made the urine oxalate will then decrease. […] Primary hyperoxaluria (PH) is a rare genetic (inherited) disorder that is present at birth, and leads to an increase in oxalate production within the body.
#2 Hyperoxaluria and oxalosis // Middlesex Health
https://middlesexhealth.org/learning-center/diseases-and-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. […] The long-term health of your kidneys depends on finding hyperoxaluria early and getting it treated quickly. […] 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. […] Without treatment, primary hyperoxaluria can damage the kidneys. Over time the kidneys may stop working. This is called kidney failure. […] Treatment depends on the type of hyperoxaluria you have, the symptoms and how serious the disease is. How well you respond to treatment also helps your health care team decide how else to manage your condition. […] To lower the amount of calcium oxalate crystals that form in your kidneys, your doctor may suggest one or more of these treatments:
#2 Hyperoxaluria and oxalosis – Symptoms and causes – Mayo Clinic
https://www.mayoclinic.org/diseases-conditions/hyperoxaluria/symptoms-causes/syc-20352254
Hyperoxaluria and oxalosis care at Mayo Clinic […] 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. […] 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
https://www.mymlc.com/health-information/diseases-and-conditions/h/hyperoxaluria-and-oxalosis/?section=Symptoms
Hyperoxaluria occurs when you have too much oxalate in your urine. Oxalate is a natural chemical in your body, and it’s also found in certain types of food. But too much oxalate in your urine can cause serious problems. […] The long-term health of your kidneys depends on early diagnosis and prompt treatment of hyperoxaluria. […] 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. […] 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 UAB named OHF Care Center for rare kidney stone disease research
https://www.uabmedicine.org/news/uab-designated-ohf-care-center-for-rare-kidney-stone-disease-research-and-treatment/
Research at UAB helped lead to the development of new FDA-approved drugs for patients with primary hyperoxaluria 1 that have changed patients care pathways to prevent more of them from needing transplants. […] In addition to offering a strong research component, OHF Care Centers are recognized for having a multidisciplinary team of experts managing a patients care. […] I think now with the designation, it really puts an emphasis on our continuing to create a robust multidisciplinary team, Wood said. […] UABs primary hyperoxaluria team aims to continue to address the needs of patients living with the disease from various perspectives.
#2 Hyperoxaluria and oxalosis | UM Health-Sparrow
https://www.uofmhealthsparrow.org/departments-conditions/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. The long-term health of your kidneys depends on finding hyperoxaluria early and getting it treated quickly. […] 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. […] Treatment depends on the type of hyperoxaluria you have, the symptoms and how serious the disease is. How well you respond to treatment also helps your health care team decide how else to manage your condition. […] To lower the amount of calcium oxalate crystals that form in your kidneys, your doctor may suggest one or more of these treatments: Medicine. Lumasiran (Oxlumo) is a medicine that lowers the level of oxalate in children and adults with primary hyperoxaluria.
#2 Mayo Clinic Health Library – Hyperoxaluria and oxalosis | Swiss Medical Network
https://www.swissmedical.net/en/healtcare-library/con-20166953
To lower the amount of calcium oxalate crystals that form in your kidneys, your doctor may suggest one or more of these treatments: Medicine. Lumasiran (Oxlumo) is a medicine that lowers the level of oxalate in children and adults with primary hyperoxaluria. […] Depending on how serious your hyperoxaluria is, your kidneys may work less well over time. A treatment called dialysis that takes over some of the work of your kidneys may help. But it doesn’t keep up with the amount of oxalate your body makes. A kidney transplant or kidney and liver transplant can treat primary hyperoxaluria. A liver transplant is the only treatment that might cure some types of primary hyperoxaluria.
#2 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 goal of treatment for PH1 is to stop oxalate from building up in your kidneys and blood vessels. This can also help keep your kidneys healthy for as long as possible. […] All people living with PH1 need to remember to drink enough fluids each day. […] About 30% of people living with PH1 may be able to lower their blood oxalate levels with the help of pyridoxine (vitamin B6). […] Two medications are available for people living with PH1 to lower the amount of oxalate naturally made by your liver: Lumasiran (Oxlumo) and Nedosiran (Rivfloza). […] Urine that has too much acid increases the risk of oxalate combining with calcium to form a kidney stone and/or block the blood vessels in your kidneys.
#2 Hyperoxaluria and oxalosis | UM Health-Sparrow
https://www.uofmhealthsparrow.org/departments-conditions/conditions/hyperoxaluria-and-oxalosis
If large kidney stones cause pain or block urine flow, you may need to have them removed or broken up so they can pass in the urine. […] Depending on how serious your hyperoxaluria is, your kidneys may work less well over time. A treatment called dialysis that takes over some of the work of your kidneys may help. But it doesn’t keep up with the amount of oxalate your body makes. A kidney transplant or kidney and liver transplant can treat primary hyperoxaluria. A liver transplant is the only treatment that might cure some types of primary hyperoxaluria.
#2 Clinical practice recommendations for primary hyperoxaluria: anÂ expert consensus statement from ERKNet and OxalEurope | Nature Reviews Nephrology
https://www.nature.com/articles/s41581-022-00661-1
If genetic assessment reveals a mutation consistent with vitamin B6 (VB6; also known as pyridoxine) non-responsive PH1, RNA interference (RNAi) therapy is indicated. […] We recommend adapting fluid management to optimize urinary oxalate excretion as determined by a morning spot urine analysis. […] We recommend starting pyridoxine supplementation in all patients suspected to have PH and in all patients with genetically proven PH1. […] Dialysis treatment may be indicated in patients with PH who have progressed to stage 45 CKD before the development of uraemia, depending on the potential risk of systemic oxalosis. […] Liver transplantation remains the only cure for PH1. […] The native liver should be removed at transplantation. […] For patients with PH and kidney failure who undergo kidney transplantation, combined liver and kidney transplantation (CLKT) results in better kidney graft survival than isolated kidney transplantation.