Autosomalna dominująca wielotorbielowatość nerek
Epidemiologia

Autosomalna dominująca wielotorbielowatość nerek (ADPKD) jest najczęstszą dziedziczną chorobą nerek, z zapadalnością szacowaną na 1:400 do 1:1000 żywych urodzeń, co przekłada się na około 12,5 miliona chorych globalnie. Epidemiologia ADPKD wykazuje zróżnicowanie geograficzne i etniczne, z częstością występowania od 25 do 250 na 100 000 osób w różnych krajach, a w USA najwyższą częstość obserwuje się u osób rasy czarnej (73,0/100 000). Choroba jest czwartą najczęstszą przyczyną schyłkowej niewydolności nerek (ESRD), odpowiadając za 7-15% przypadków terapii nerkozastępczej, przy czym około 50% pacjentów wymaga dializ lub przeszczepienia do 60-62 roku życia, a do 75% do 75 roku życia. Czynniki ryzyka progresji obejmują mutacje w genach PKD1 (78-85%) i PKD2 (15%), wielkość nerek skorygowaną względem wzrostu, nadciśnienie tętnicze (obecne u 50-80% pacjentów), płeć męską, białkomocz oraz wysokie wydalanie sodu z moczem.

  1. Epidemiologia autosomolnej dominującej wielotorbielowatości nerek
    1. Chorobowość i rozpowszechnienie
    2. Zachorowalność
    3. Różnice rasowe i etniczne
  2. ADPKD jako przyczyna schyłkowej niewydolności nerek
    1. Czynniki ryzyka progresji choroby
  3. Uwarunkowania genetyczne i diagnostyka
    1. Diagnostyka i monitorowanie
  4. Nadzór i monitorowanie w ADPKD
    1. Przesiewowe badania genetyczne
    2. Poradnictwo diagnostyczne
  5. Nowoczesne strategie monitorowania i leczenia
    1. Badania obrazowe i prognostyczne
    2. Nowoczesne leczenie
    3. Nadzór w Azji i Afryce
  6. Tendencje śmiertelnościowe i perspektywy
    1. Kolejne rozdziały

Epidemiologia autosomolnej dominującej wielotorbielowatości nerek

Autosomalna dominująca wielotorbielowatość nerek (ADPKD) jest najczęstszą dziedziczną chorobą nerek na świecie, dotykającą około 500 000 osób w samych Stanach Zjednoczonych. Zapadalność na ADPKD szacuje się na poziomie od 1:400 do 1:1000 żywych urodzeń, co przekłada się na około 12,5 miliona osób dotkniętych tą chorobą na całym świecie.12 W Wielkiej Brytanii szacuje się, że choroba dotyka między 30 000 a 70 000 osób, czyli około 1 na 1000 do 2500 mieszkańców.3

Chorobowość i rozpowszechnienie

Dane dotyczące rozpowszechnienia ADPKD różnią się w zależności od badania i regionu geograficznego. W badaniu przeprowadzonym w hrabstwie Olmsted w stanie Minnesota wykazano, że częstość występowania pewnej lub prawdopodobnej ADPKD na dzień 1 stycznia 2010 roku wynosiła 68 przypadków na 100 000 mieszkańców.45 Z kolei w prowincji Cordoba w Hiszpanii odnotowano chorobowość na poziomie 61 przypadków na 100 000 mieszkańców.67

W dużym, zróżnicowanym etnicznie badaniu amerykańskim przeprowadzonym w latach 2002-2018 surowa częstość występowania ADPKD wyniosła 42,6 na 100 000 osób. Co istotne, zaobserwowano różnice w występowaniu choroby w zależności od rasy i pochodzenia etnicznego:8

  • 73,0 na 100 000 osób wśród osób rasy czarnej
  • 63,2 na 100 000 osób wśród białych nie-Latynosów
  • 48,9 na 100 000 osób wśród Azjatów/mieszkańców wysp Pacyfiku
  • 39,9 na 100 000 osób wśród Latynosów

8

Częstość występowania ADPKD różni się również w poszczególnych krajach. Według dostępnych danych epidemiologicznych wynosi ona:9

  • 100-250 na 100 000 osób w Stanach Zjednoczonych
  • 90 na 100 000 osób we Francji (dane z 1996 r.)
  • 41 na 100 000 osób w Wielkiej Brytanii (dane z 1991 r.)
  • 33 na 100 000 osób w Niemczech (dane z 2013 r.)
  • 25 na 100 000 osób w Japonii (dane z 1998 r.)

9

Zachorowalność

W badaniu epidemiologicznym z hrabstwa Olmsted w Minnesocie wykazano, że dostosowana względem wieku i płci roczna zachorowalność na ADPKD w latach 1980-2016 wynosiła 3,06 (95% CI, 2,52-3,60) na 100 000 osobolat. Jest to wartość 2,2 razy wyższa niż wcześniej raportowana dla lat 1935-1980 (1,38 na 100 000 osobolat), co może wskazywać na poprawę w diagnostyce i świadomości dotyczącej tej choroby.4510

W Tajwanie, w badaniu przeprowadzonym w latach 2009-2019 wśród dzieci, zachorowalność na ADPKD wahała się od 2,32 do 4,45 na 100 000 osób, a skumulowana zachorowalność wynosiła 1,26-1,57%.1112

Różnice rasowe i etniczne

ADPKD występuje we wszystkich grupach rasowych i etnicznych, jednak obserwuje się pewne różnice w częstości występowania i przebiegu choroby. Schyłkowa niewydolność nerek spowodowana przez ADPKD jest rzadziej spotykana wśród Afroamerykanów niż wśród białych Amerykanów.1 Jak wspomniano wcześniej, badania wykazują różnice w częstości występowania ADPKD wśród różnych grup etnicznych w USA, przy czym najwyższą częstość odnotowano wśród osób rasy czarnej, a najniższą wśród Latynosów.8

Różnice między grupami rasowymi zaobserwowano również w zakresie śmiertelności. Badania sugerują niższe ryzyko zgonu wśród kolorowych społeczności z ADPKD i schyłkową niewydolnością nerek (ESRD) w porównaniu z pacjentami rasy białej. Dane te wskazują na potencjalne różnice rasowe w śmiertelności wśród pacjentów w wieku ≥65 lat z ADPKD, zarówno w kohortach bez schyłkowej niewydolności nerek (non-ESRD CKD), jak i ze schyłkową niewydolnością nerek (ESRD).1314

ADPKD jako przyczyna schyłkowej niewydolności nerek

Autosomalna dominująca wielotorbielowatość nerek stanowi czwartą najczęstszą przyczynę schyłkowej niewydolności nerek (ESRD) na świecie, odpowiadając za 7-15% przypadków pacjentów poddawanych terapii nerkozastępczej.1516 W Stanach Zjednoczonych i Europie ADPKD odpowiada za 6-10% przypadków wymagających terapii nerkozastępczej.15 Około 5% pacjentów rozpoczynających dializy rocznie w USA ma ADPKD jako przyczynę choroby nerek.1718

Chociaż część pacjentów pozostaje bezobjawowa przez całe życie, ADPKD nie jest uważana za łagodne schorzenie, ponieważ około połowa, a prawdopodobnie nawet trzy czwarte wszystkich dotkniętych pacjentów rozwija schyłkową chorobę nerek do 70. roku życia.1 Według różnych źródeł:

  • Około 50% pacjentów z ADPKD wymaga terapii nerkozastępczej do 60. roku życia1920
  • Do 75% pacjentów wymaga terapii nerkozastępczej (dializy lub przeszczepienia) do 75. roku życia21
  • Średnio połowa pacjentów z ADPKD potrzebuje terapii nerkozastępczej do 62. roku życia22

Czynniki ryzyka progresji choroby

Zidentyfikowane czynniki ryzyka progresji choroby nerek w ADPKD obejmują:1718

  • Czynniki genetyczne (typ mutacji – PKD1 vs PKD2)
  • Wielkość nerek – skorygowana względem wzrostu całkowita objętość nerek jest najlepszym wskaźnikiem przyszłej funkcji nerek
  • Nadciśnienie tętnicze – obecne u 50-80% dorosłych pacjentów z ADPKD
  • Wczesny początek objawów
  • Płeć męska – choroba jest nieco cięższa u mężczyzn niż u kobiet
  • Białkomocz
  • Wysokie wydalanie sodu z moczem

171815

W badaniu przeprowadzonym w Etiopii wykazano, że kluczowymi czynnikami ryzyka związanymi z progresją choroby były: młodszy wiek w momencie diagnozy (adjusted Odds Ratio [aOR]: 0,92, 95% CI: 0,87–0,98; p = 0,007), płeć męska (aOR: 4,5, 95% CI: 1,3–15,95, p = 0,017), wyższe wyjściowe ciśnienie skurczowe krwi (aOR: 1,05, 95% CI: 1,01–1,10, p = 0,026) oraz obecność chorób współistniejących (aOR: 3,95, 95% CI: 1,10–14,33, p = 0,037).23

Uwarunkowania genetyczne i diagnostyka

ADPKD jest chorobą dziedziczoną w sposób autosomalny dominujący, co oznacza, że ryzyko odziedziczenia choroby od osoby dotkniętej wynosi 50%.19 W przeciwieństwie do niektórych chorób genetycznych, ADPKD nie pomija pokoleń, co oznacza, że często dotyka wielu członków rodziny.24

Choroba jest spowodowana głównie mutacjami w dwóch genach:152422

  • PKD1 na chromosomie 16 – odpowiada za około 78-85% przypadków
  • PKD2 na chromosomie 4 – odpowiada za około 15% przypadków

Około 10% osób zdiagnozowanych z ADPKD nie ma historii rodzinnej tej choroby; są to przypadki nazywane mutacją spontaniczną.24 Inne źródła mówią o około 25% pacjentów bez historii rodzinnej, którzy reprezentują nowe mutacje.25

Diagnostyka i monitorowanie

Diagnoza ADPKD jest zazwyczaj stawiana na podstawie kombinacji pozytywnego wywiadu rodzinnego, badań obrazowych za pomocą ultrasonografii i/lub tomografii komputerowej oraz objawów klinicznych takich jak nadciśnienie tętnicze i/lub niewydolność nerek.26 Ultrasonografia jest preferowaną metodą diagnostyczną ze względu na jej powszechną dostępność, niski koszt i nieinwazyjność.2327

Diagnozę najczęściej stawia się w następujących sytuacjach:17

  • Rutynowa ocena u pacjenta bezobjawowego z pozytywnym wywiadem rodzinnym ADPKD
  • Wstępna diagnostyka nowo rozpoznanego nadciśnienia tętniczego
  • Jako przypadkowe znalezisko podczas badania obrazowego wykonanego z innego powodu
  • Podczas oceny objawów specyficznych dla ADPKD

17

Testy genetyczne w kierunku ADPKD można przeprowadzić za pomocą bezpośredniego sekwencjonowania DNA lub analizy sprzężeń genowych DNA. Głównym wskazaniem do testów genetycznych są młodzi dorośli z negatywnymi wynikami badań ultrasonograficznych, którzy mają wywiad rodzinny sugerujący ADPKD i są oceniani jako potencjalni dawcy nerek, rozważają posiadanie dzieci lub planują ciążę.26 Lekarze powinni również rozważyć testy genetyczne, szczególnie u osób poniżej 40 roku życia i pacjentów bez wywiadu rodzinnego choroby.23

Nadzór i monitorowanie w ADPKD

Skuteczny nadzór nad pacjentami z ADPKD jest kluczowy dla opóźnienia progresji choroby i poprawy wyników leczenia. Pacjenci powinni regularnie kontrolować się u nefrologów po diagnozie. Wczesna diagnoza, ocena ryzyka, odpowiednia farmakoterapia i właściwe zarządzanie czynnikami ryzyka kamicy nerkowej, poziomami cytrynianu w moczu, nadciśnieniem tętniczym i białkomoczem mogą pomóc spowolnić postęp choroby.26

Przesiewowe badania genetyczne

Według wytycznych Klinicznej Praktyki Stowarzyszenia Nefrologicznego rodzice lub opiekunowie osób z ADPKD powinni otrzymać edukację na temat ryzyka odziedziczenia ADPKD.26 Przeprowadzanie badań przesiewowych u osób, o których wiadomo, że są zagrożone rozwojem ADPKD ze względu na wywiad rodzinny, jest kwestią kontrowersyjną w środowisku medycznym.28

Niektórzy twierdzą, że badania przesiewowe niewiele osiągają, ponieważ obecnie nie ma leczenia zatrzymującego rozwój ADPKD. Inni argumentują, że chociaż nie można zapobiec ADPKD, badania przesiewowe mogą pomóc w identyfikacji torbieli, a możliwe jest leczenie nadciśnienia tętniczego związanego z ADPKD, co może zmniejszyć ryzyko rozwoju chorób sercowo-naczyniowych u pacjenta.28

W przypadku bezobjawowych nieletnich zagrożonych ADPKD, stały nadzór (powtarzane badania przesiewowe w kierunku uleczalnych objawów choroby bez testów diagnostycznych) lub natychmiastowe badania diagnostyczne są równie ważnymi podejściami klinicznymi. Dzieci z pozytywnym wywiadem rodzinnym oraz z potwierdzonym lub nieznanym statusem choroby powinny być monitorowane pod kątem nadciśnienia tętniczego (najlepiej za pomocą ambulatoryjnego monitorowania ciśnienia krwi) i albuminurii.29

Poradnictwo diagnostyczne

Poradnictwo diagnostyczne prowadzone przez doświadczony personel jest niezbędne dla wszystkich pacjentów z podejrzeniem ADPKD przed przeprowadzeniem testów diagnostycznych.1730 System opieki zdrowotnej potrzebuje strategii, które oferują tym rodzinom odpowiedź, w tym pierwotną profilaktykę choroby za pomocą technik diagnostyki genetycznej preimplantacyjnej (PGD).31

Przegląd opublikowany przez badaczy z Mayo Clinic zaleca, aby nefrolog, który zajmuje się pacjentami z ADPKD, dzielił się podejmowaniem decyzji z pacjentem w zakresie testów genetycznych, leczenia, monitorowania i badań przesiewowych tętniaka.32

Nowoczesne strategie monitorowania i leczenia

W ostatnich latach zarządzanie ADPKD znacznie się rozwinęło dzięki dostępności testów genetycznych, technologii diagnostyki genetycznej preimplantacyjnej i nowym środkom terapeutycznym.33

Badania obrazowe i prognostyczne

Kluczowym narzędziem w zarządzaniu chorobą jest Klasyfikacja Obrazowania Mayo (Mayo Imaging Classification, MIC), która przewiduje ciężkość choroby na podstawie wielkości nerek i tempa ich wzrostu.22 Pomiary objętości torbieli i nerek pozwalają przewidzieć ryzyko progresji do przewlekłej choroby nerek i schyłkowej niewydolności nerek, często zanim pojawią się zmiany w rutynowych badaniach laboratoryjnych.21

Dostosowana względem wzrostu całkowita objętość nerek dla obu nerek i ilość pozostałej normalnej tkanki nerkowej są najlepszymi wskaźnikami przyszłej funkcji nerek i potrzeby stosowania antagonistów receptora wazopresyny.34

Nowoczesne leczenie

Obecnie dostępne są nowe metody leczenia, takie jak tolwaptan – lek zatwierdzony przez Amerykańską Agencję ds. Żywności i Leków w celu spowolnienia spadku funkcji nerek u dorosłych z wysokim ryzykiem szybko postępującej ADPKD.22 W Australii aktualne wskazania w ramach Pharmaceutical Benefit Scheme dla tolwaptanu obejmują stosowanie u dorosłych pacjentów z ADPKD z eGFR między 30-89 mL/min/1,73 m² z szybko zmniejszającym się eGFR (≥5 mL/min/1,73 m²/rok).35

W Japonii od 2014 roku prowadzony jest nadzór po wprowadzeniu leku do obrotu (PMS), zwany nadzorem SLOW-PKD (Samsca Long-term surveillance of tolvaptan in PKD patients in real-world setting), w celu oceny bezpieczeństwa i skuteczności tolwaptanu w rzeczywistych warunkach klinicznych. Ogólny profil bezpieczeństwa tolwaptanu był zgodny z tym, który obserwowano w poprzednich badaniach.36

Obecnie antagonistów wazopresyny nie należy rutynowo oferować dzieciom, ale można rozważyć stosowanie poza wskazaniami rejestracyjnymi u wybranych dzieci. Nie osiągnięto konsensusu w sprawie stosowania statyn, ale inhibitory mTOR i analogi somatostatyny nie są zalecane u dzieci. Dzieci z ADPKD powinny być zdecydowanie zachęcane do osiągnięcia niskiego spożycia soli w diecie, które jest zalecane dla wszystkich dzieci.29

Nadzór w Azji i Afryce

Informacje na temat ADPKD w Afryce są ograniczone, a diagnoza i zarządzanie często zależą od danych z krajów rozwiniętych. W Etiopii opublikowano tylko jedną serię przypadków obejmującą czterech pacjentów z ADPKD, co zapewnia ograniczone dane.23

W Ghanie ADPKD występuje głównie u osób w wieku 31 lat i starszych, z większą przewagą u mężczyzn. ADPKD jest czwartą najczęstszą przyczyną przewlekłej choroby nerek w Ghanie. Nadciśnienie tętnicze okazało się najczęstszą chorobą współistniejącą oraz powikłaniem związanym z ADPKD, a białkomocz, krwiomocz, infekcje dróg moczowych, anemia i inne rozwijają się w miarę postępu choroby.37

Inicjatywa RAPID-ADPKD (Retrospective epidemiological study of Asia-Pacific patients with rapId Disease progression of Autosomal Dominant Polycystic Kidney Disease) to wielonarodowe, retrospektywne, obserwacyjne badanie kohortowe pacjentów z ADPKD w regionie Azji i Pacyfiku (Australia, Chiny, Hongkong, Korea Południowa, Tajpej i Turcja). Celem tego wielonarodowego, wieloośrodkowego, retrospektywnego badania kohortowego było określenie cech klinicznych pacjentów z szybko postępującą ADPKD w regionie Azji i Pacyfiku przy użyciu aktualnych zaleceń dotyczących identyfikacji szybkiej progresji.3839

Tendencje śmiertelnościowe i perspektywy

Dzięki zwiększonej świadomości, wczesnej diagnostyce i leczeniu nadciśnienia tętniczego wiek wystąpienia schyłkowej niewydolności nerek zwiększył się, a śmiertelność z wszystkich przyczyn zmniejszyła się.1 Raport z Europejskiego Rejestru Stowarzyszenia Nefrologicznego Europejskich Dializ i Transplantacji na podstawie danych zebranych między 1991 a 2010 rokiem wykazał niewielką widoczną poprawę w zakresie odraczania wieku wystąpienia schyłkowej choroby nerek w ciągu ostatnich dwóch dekad.16

Jednak nieznaczną poprawę śmiertelności pacjentów z ADPKD wskazało badanie UK General Practice Research Database, które wykazało tendencję do zmniejszonej śmiertelności związanej ze zwiększonym zakresem i intensywnością terapii przeciwnadciśnieniowej.16

Dane z badania powszechności chorób układu sercowo-naczyniowego u pacjentów z ADPKD są ograniczone. W jednym z badań wykazano, że częstość występowania chorób układu sercowo-naczyniowego w badanej populacji wynosiła 42,6%. Częstość występowania chorób układu sercowo-naczyniowego zwiększała się wraz z nasileniem dysfunkcji nerek. Wystąpienie chorób układu sercowo-naczyniowego jest najsilniejszym czynnikiem prognostycznym śmiertelności wśród pacjentów z ADPKD.40

Według najnowszych danych rynkowych, globalny rynek ADPKD szacowany jest na 1,66 mld USD w 2025 roku i oczekuje się, że osiągnie 2,56 mld USD do 2032 roku, rosnąc w złożonej rocznej stopie wzrostu (CAGR) wynoszącej 6,4% w latach 2025-2032.41 Wskazuje to na rosnące znaczenie leczenia tej choroby i potrzebę dalszych badań nad nowymi opcjami terapeutycznymi.

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  1. 09.04.2026
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Materiały źródłowe

  • #1 Autosomal Dominant Polycystic Kidney Disease – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK532934/
    Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited cause of end-stage kidney disease (ESKD) worldwide, affecting approximately 500,000 people in the United States alone. […] ADPKD is a worldwide condition affecting all races, with a prevalence rate of diagnosed cases ranging from 1:400 to 1:1,000. […] While some patients remain asymptomatic their whole lives, ADPKD is not considered a benign disorder, as about half and possibly as many as three-quarters of all patients affected develop end-stage kidney disease by the time they reach 70 years of age, constituting up to 10% of all patients with ESKD. […] End-stage kidney disease caused by ADPKD in African Americans is less common than in White Americans. […] Due to increased awareness, early detection, and hypertension treatment, the age of onset of ESKD has increased, and all-cause mortality has decreased.
  • #2 Determinants of Disease Progression in Autosomal Dominant Polycystic Kidney Disease
    https://www.mdpi.com/2075-4426/14/9/936
    Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disease, affecting 12.5 million people worldwide. It ranks as the fourth most common cause of renal replacement therapy globally and is responsible for up to 10% of end-stage renal disease (ESRD) cases. Due to its typically silent clinical presentation, fewer than half of these cases are diagnosed during the patient’s lifetime. ADPKD primarily involves mutations in the PKD1 gene, on chromosome 16 (accounting for 85% of cases and linked to the alpha-globin gene locus) and mutation in PKD2 gene, on chromosome 4 (accounting for the remaining 15% of cases). […] Common symptoms of ADPKD include flank pain, hematuria, renal insufficiency, palpable kidneys, and hypertension. These symptoms can present at any age. While autosomal dominant diseases typically do not skip generations, only 75% of ADPKD patients have a positive family history. Therefore, awareness of these symptoms is crucial for screening and early diagnosis. Pain is a common complaint in 60% of ADPKD patients, often located in the back, flank, or abdominal areas, and can be severe and disabling. Episodic gross hematuria occurs in approximately 35 to 50% of patients and is associated with a more rapid progression of kidney disease in ADPKD, often due to nephrolithiasis. Another common early finding in ADPKD is hypertension, which occurs in 50 to 70% of cases. Cysts can develop in various organs of ADPKD patients, including the liver (70%), seminal vesicles (40%), pancreas (10%), and arachnoid meningeal membrane (8%). Additionally, other connective tissue abnormalities such as intracranial aneurysms, mitral valve prolapse, abdominal hernias, and diverticula can also occur.
  • #3
    https://www.nhs.uk/conditions/autosomal-dominant-polycystic-kidney-disease-adpkd/
    Autosomal dominant polycystic kidney disease (ADPKD) is an inherited condition that causes small fluid-filled sacs called cysts to develop in the kidneys. […] ADPKD is the most common inherited condition to affect the kidneys, although it’s still relatively uncommon. […] It’s estimated up to 1 in every 1000 to 2500 people in the UK has ADPKD. This means there could be between 30,000 and 70,000 people in the UK with the condition.
  • #4 Epidemiology of Autosomal Dominant Polycystic Kidney Disease in Olmsted County
    https://pmc.ncbi.nlm.nih.gov/articles/PMC6946081/
    The prevalence of autosomal dominant polycystic kidney disease (ADPKD) remains controversial. Incidence rates in Olmsted County, Minnesota, during 1935-1980 were previously reported. The current work extends this study to 2016. […] The age- and sex-adjusted annual incidence of definite and likely ADPKD diagnosis during 1980-2016 was 3.06 (95% CI, 2.52 to 3.60) per 100,000 person-years, which is 2.2 times higher than that previously reported for 1935-1980 (1.38 per 100,000 person-years). The point prevalence of definite or likely ADPKD on January 1, 2010 was 68 (95% CI, 53.90 to 82.13) per 100,000 population. […] The point prevalence of definite and likely ADPKD observed in this study is higher than those reported in the literature, but lower than genetic prevalence based on estimates of disease expectancy or on analysis of large population-sequencing databases.
  • #5 Epidemiology of Autosomal Dominant Polycystic Kidney Disease in Olmsted County
    https://pmc.ncbi.nlm.nih.gov/articles/PMC6946081/
    The overall age- and sex-adjusted annual incidence of ADPKD diagnosis in Olmsted County during 1935-1980 was estimated to be 1.38 per 100,000 person-years. The present study indicates that definite and likely ADPKD has been diagnosed 2.2 times more frequently during 1980-2016 (3.06 per 100,000 person-years). The point prevalence of definite or likely ADPKD on January 1, 2010 in Olmsted County was 68 per 100,000 population, which is higher than that recently estimated in European populations, between 24 and 39 per 100,000, possibly due to a more comprehensive ascertainment of a population served by only two medical centers.
  • #6 The natural history of autosomal dominant polycystic kidney disease. A strategy for grouping families and mutations | Nefrología
    https://www.revistanefrologia.com/en-the-natural-history-autosomal-dominant-articulo-S2013251423000640
    Autosomal dominant polycystic kidney disease (ADPKD) is a main cause of end-stage renal disease. Today, knowledge of its genetic basis has made it possible to develop strategies that prevent the transmission of the disease. […] The prevalence was 61 cases per 100,000 inhabitants. […] Renal survival of ADPKD in the province of Crdoba is similar to that described in the literature. […] The objective of our study was to analyze the natural history of ADPKD in the province of Crdoba. […] ADPKD is the most common inherited kidney disease, with a global prevalence of 1 in 1000 people, making it one of the leading causes of end-stage renal failure (ESRD) worldwide. […] Kidney ultrasound is the imaging study commonly used due to its safety and low cost. […] It is essential to know the genetic basis of diseases, especially considering that today it is possible to avoid their primary transmission through preimplantation genetic diagnosis (PGD).
  • #7 The natural history of autosomal dominant polycystic kidney disease. A strategy for grouping families and mutations | Nefrología
    https://www.revistanefrologia.com/en-the-natural-history-autosomal-dominant-articulo-S2013251423000640
    ADPKD is an autosomal dominant genetic disease caused mainly by mutations in 2 genes, PKD1 and PKD2. […] The most rigorous study, conducted in 2020 by the Mayo Clinic (Olmsted County), calculated the prevalence of the definitive/probable disease at 68 per 100,000 inhabitants. […] The health system needs strategies that offer these families a response including primary prevention of the disease with PGD techniques. […] Renal prognosis depends on the mutation, patients with mutations in PKD1 have terminal CKD at a median age of 54.3 years (compared to 74 years in PKD2). […] In summary, the renal survival of ADPKD in the province of Crdoba is comparable to that published in the literature and is significantly worse in PKD1 (57.5 years) than in PKD2 (70 years). The prevalence of ADPKD was 61 per 100,000.
  • #8
    https://journals.lww.com/kidney360/fulltext/2021/12000/autosomal_dominant_polycystic_kidney_disease.18.aspx
    Among a large racially and ethnically diverse US population, the prevalence of diagnosed ADPKD between 2002 and 2018 was 42.6 per 100,000 persons. […] ADPKD prevalence (per 100,000) was higher in (non-Hispanic) White (63.2) and Black (73.0) patients compared with Hispanic (39.9) and Asian (48.9) patients. […] Given the variable penetrance of ADPKD, our findings suggest race may be a factor in the clinical presentation and diagnosis of ADPKD. […] The crude prevalence of ADPKD was 42.6 per 100,000 persons. Differences in prevalence were evident by race and ethnicity: 63.2, 73.0, 39.9, 48.9, and 9.4 per 100,000 persons for non-Hispanic White, Black, Hispanic, Asian/Pacific Islander, and other/unknown members, respectively; P0.001). […] Our study was performed within a real-world clinical environment of a large, racially and ethnically diverse population, and observed a crude ADPKD prevalence of 42.6 per 100,000 people. We observed differences in prevalence by race and ethnicity with ADPKD prevalence higher among Black members (73.0 per 100,000) and non-Hispanic White members (63.2), and lower among Asian/Pacific Islander (48.9) and Hispanic members (39.9). […] Our prevalence estimates are similar to other population-based estimates from Europe and the US. […] Our study is also one of the first evaluating ADPKD prevalence among different race and ethnicities, including Hispanic and Asian patients.
  • #9 Polycystic kidney disease epidemiology and demographics – wikidoc
    https://www.wikidoc.org/index.php/Polycystic_kidney_disease_epidemiology_and_demographics
    The prevalence of autosomal dominant polycystic kidney disease (ADPKD) is approximately 100 – 250 per 100,000 individuals in the United States. […] In 2013, the prevalence of autosomal dominant polycystic kidney disease was estimated to be 33 cases per 100,000 individuals in Germany. […] In 1998, the prevalence of autosomal dominant polycystic kidney disease was estimated to be 25 cases per 100,000 individuals in Japan. […] In 1996, the prevalence of autosomal dominant polycystic kidney disease was estimated to be 90 cases per 100,000 individuals in France. […] In 1991, the prevalence of autosomal dominant polycystic kidney disease was estimated to be 41 cases per 100,000 individuals in United Kingdom. […] In 1957, the prevalence of autosomal dominant polycystic kidney disease was estimated to be 100 cases per 100,000 individuals in Denmark. […] The incidence of ADPKD increases with age; the average age at diagnosis is 30 – 50 years. […] Autosomal dominant polycystic kidney disease affects men and women equally.
  • #10
    https://journals.lww.com/cjasn/fulltext/2020/01000/epidemiology_of_autosomal_dominant_polycystic.12.aspx
    The prevalence of autosomal dominant polycystic kidney disease (ADPKD) remains controversial. […] The age- and sex-adjusted annual incidence of definite and likely ADPKD diagnosis during 1980-2016 was 3.06 (95% CI, 2.52 to 3.60) per 100,000 person-years, which is 2.2 times higher than that previously reported for 1935-1980 (1.38 per 100,000 person-years). […] The point prevalence of definite and likely ADPKD observed in this study is higher than those reported in the literature, but lower than genetic prevalence based on estimates of disease expectancy or on analysis of large population-sequencing databases.
  • #11 Overview of clinical status, treatment, and long-term outcomes of pediatric autosomal-dominant polycystic kidney disease: a nationwide survey in Taiwan | Scientific Reports
    https://www.nature.com/articles/s41598-024-67250-z
    This retrospective study investigated the incidence, medication use, and outcomes in pediatric autosomal-dominant polycystic kidney disease (ADPKD) using Taiwan’s National Health Insurance Research Database (NHIRD). […] A total of 621 pediatric patients were identified from 2009 to 2019 (mean age, 9.516.43 years), and ADPKD incidence ranged from 2.32 to 4.45 per 100,000 individuals (cumulative incidence, 1.261.57%). […] The incidence of newly developed hypertension, anti-hypertensive agent use, nephrolithiasis, and proteinuria were significantly higher in the ADPKD group than the non-ADPKD group (0.7 vs. 0.04, 2.26 vs. 0.30, 0.4 vs. 0.02, and 0.73 vs. 0.05 per 100 person-years, respectively). […] Our study offers valuable insights into the epidemiology of pediatric ADPKD in Taiwan and could help in formulating guidelines for its appropriate management.
  • #12 Overview of clinical status, treatment, and long-term outcomes of pediatric autosomal-dominant polycystic kidney disease: a nationwide survey in Taiwan | Scientific Reports
    https://www.nature.com/articles/s41598-024-67250-z
    The incidence of ADPKD and associated complications vary geographically, ethnically, and methodologically. […] However, there are no reports on the epidemiology and current characteristics of the pediatric ADPKD population in Taiwan. […] The National Health Insurance Research Database (NHIRD) provides access to 99.8% of healthcare data in Taiwan, facilitating population-based epidemiological research and evaluation of disease incidence and healthcare burdens. […] This study utilized NHIRD data to investigate nation-wide trends in pediatric ADPKD incidence, medication use, and disease outcomes and complications in Taiwan. […] The prevalence of ADPKD in the pediatric population between 2008 and 2019 was 2.32 to 4.45 per 100,000 persons. […] The cumulative incidence rate of pediatric ADPKD from 2009 to 2019 was 1.261.57%.
  • #13 Mortality risk in patients with autosomal dominant polycystic kidney disease | BMC Nephrology | Full Text
    https://bmcnephrol.biomedcentral.com/articles/10.1186/s12882-024-03484-3
    Autosomal dominant polycystic kidney disease (ADPKD) is the leading inheritable cause of end-stage renal disease (ESRD). Mortality data specific to patients with ADPKD is currently lacking; thus, the aim of this study was to estimate mortality in patients with ADPKD. […] Mortality rates specific to patients aged 65 years suggest racial differences in mortality among these patients in both non-ESRD CKD and ESRD cohorts. These data fill an important knowledge gap in mortality estimates for patients with ADPKD in the United States. […] While the USRDS has reported mortality for patients with non-ESRD CKD, mortality data specific to patients with ADPKD is currently not available. […] Our study sought to estimate mortality in ADPKD in non-ESRD CKD (i.e., patients who had not received treatment of dialysis or transplant) and in ESRD (i.e., patients who received treatment of dialysis or transplant) overall and by sex, race, and age group for the overall population and a subset of patients aged 65 years.
  • #14 Mortality risk in patients with autosomal dominant polycystic kidney disease | BMC Nephrology | Full Text
    https://bmcnephrol.biomedcentral.com/articles/10.1186/s12882-024-03484-3
    We also found racial differences in mortality in both non-ESRD CKD and ESRD cohorts, and in mortality risk in the ESRD cohort, among patients aged 65 years with ADPKD. […] The results of this study suggest a lower risk of death for communities of color with ADPKD and ESRD than for White patients, based on comparison of mortality rates in ESRD and non-ESRD cohorts. These data also suggest potential racial differences in mortality among patients aged 65 years with ADPKD in both non-ESRD CKD and ESRD cohorts, and a possible survivorship effect among Black patients aged 65 years with ADPKD.
  • #15 Polycystic Kidney Disease: Practice Essentials, Pathophysiology, Etiology
    https://emedicine.medscape.com/article/244907-overview
    ADPKD is the most frequent genetic cause of chronic kidney disease (CKD) in adults, accounting for 6-10 % of patients on dialysis in the United States. […] Worldwide, ADPKD affects approximately 4 to 7 million individuals and accounts for 7-15% of patients on kidney replacement therapy (KRT). In North America and Europe, ADPKD is responsible for 6-10% of KRT cases. […] Approximately one per 800-1000 population carries a pathogenic variant for this condition. Approximately 85-90% of those individuals have PKD1 pathogenic variants; most of the remainder have PKD2 disease-causing variants. […] ADPKD is slightly more severe in males than in females. […] Symptoms generally increase with age. Children very rarely present with advanced chronic kidney disease from ADPKD.
  • #16 Autosomal dominant polycystic kidney disease: genetics, epidemiology, | AGG
    https://www.dovepress.com/autosomal-dominant-polycystic-kidney-disease-genetics-epidemiology-and-peer-reviewed-fulltext-article-AGG
    Autosomal dominant polycystic kidney disease (ADPKD) is the most common potentially lethal genetic disorder, accounting for 2%8% of end-stage renal disease worldwide. […] ADPKD affects an estimated 600,000 individuals in the USA, with an incidence rate of approximately 1/500 to 1/1,000 individuals. The disease affects both sexes equally and all races and ethnicities. […] Up to 50% of patients with ADPKD require renal replacement therapy by the age of 60 years. […] Based on the 2013 US Renal Data System report, cystic kidney disease was the fourth most common cause for patients initiating renal replacement therapy in the USA between 20092011. […] A report from the European Renal Association European Dialyses and Transplant Registry based on data collected between 1991 and 2010 demonstrated little apparent improvement in postponing age at onset of end-stage renal disease over the past two decades. […] However, a slight improvement in ADPKD patient mortality was indicated by a UK General Practice Research Database study that showed a trend toward decreased mortality associated with increasing coverage and intensity of antihypertensive therapy.
  • #17 Autosomal dominant polycystic kidney disease (ADPKD) in adults: Epidemiology, clinical presentation, and diagnosis – UpToDate
    https://www.uptodate.com/contents/autosomal-dominant-polycystic-kidney-disease-adpkd-in-adults-epidemiology-clinical-presentation-and-diagnosis
    Autosomal dominant polycystic kidney disease (ADPKD) is a common disorder, occurring in approximately 1 in 1000 live births. It is estimated that less than one-half of these cases will be diagnosed during the patient’s lifetime, as the disease is often clinically silent. […] ADPKD occurs in all races and has a reported prevalence of 1:1000. ADPKD is the underlying cause of kidney disease in approximately 5 percent of patients who initiate dialysis annually in the United States. […] Risk factors that have been identified for progressive kidney disease in ADPKD include genetic factors, kidney size, hypertension, early onset of symptoms, male sex, proteinuria, and high urinary sodium excretion. […] The diagnosis is most commonly made in the settings of routine evaluation in an asymptomatic patient with a positive family history of ADPKD, initial work-up for new-onset hypertension, as an incidental finding during an imaging study performed for an unrelated reason, and during evaluation of ADPKD-specific symptoms. […] Diagnostic counseling by experienced staff is essential for all patients with suspected ADPKD prior to diagnostic testing.
  • #18 Autosomal dominant polycystic kidney disease (ADPKD) in adults: Epidemiology, clinical presentation, and diagnosis – UpToDate
    https://www.uptodate.com/contents/autosomal-dominant-polycystic-kidney-disease-adpkd-in-adults-epidemiology-clinical-presentation-and-diagnosis/print
    Autosomal dominant polycystic kidney disease (ADPKD) is a common disorder, occurring in approximately 1 in 1000 live births. It is estimated that less than one-half of these cases will be diagnosed during the patient’s lifetime, as the disease is often clinically silent. […] ADPKD occurs in all races and has a reported prevalence of 1:1000. ADPKD is the underlying cause of kidney disease in approximately 5 percent of patients who initiate dialysis annually in the United States. […] Risk factors that have been identified for progressive kidney disease in ADPKD include genetic factors, kidney size, hypertension, early onset of symptoms, male sex, proteinuria, and high urinary sodium excretion. […] The epidemiology, clinical presentation, and diagnosis of ADPKD in adults will be reviewed here. The treatment of adults with this disease is discussed separately.
  • #19 Orphanet: Autosomal dominant polycystic kidney disease
    https://www.orpha.net/en/disease/detail/730
    Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited renal disease, with estimated prevalence of 1/2,500 in Europe. […] Symptoms typically manifests in adulthood; however, approximately 2-5% of cases present before 15 years of age. […] Renal insufficiency is slowly progressive leading to ESKD by 60 years of age in approximately half of patients. […] The pattern of inheritance is autosomal dominant. The risk of inheriting the disease from an affected individual is 50%. […] Prognosis depends on the age of disease onset and the disease severity. Approximately half of affected individuals develop ESKD by 60 years of age.
  • #20 Polycystic kidney disease – Knowledge @ AMBOSS
    https://www.amboss.com/us/knowledge/polycystic-kidney-disease/
    Polycystic kidney disease (PKD) is an inherited disorder characterized by the development of multiple cysts in the kidneys. There are two forms of PKD: autosomal dominant (ADPKD) and autosomal recessive (ARPKD). […] ADPKD: 1/1,000 […] The most common inherited cause of chronic kidney disease […] Responsible for 510% of end-stage renal disease (ESRD) […] Prevalence: 140,000 patients with polycystic kidney disease in the US. […] Epidemiological data refers to the US, unless otherwise specified. […] Hypertension, hematuria, and UTIs often precede kidney function decline. […] ESRD occurs in 60% of patients with ARPKD by 20 years of age and in 50% of patients with ADPKD by 60 years of age.
  • #21 Autosomal Dominant Polycystic Kidney Disease (ADPKD) – Genitourinary Disorders – Merck Manual Professional Edition
    https://www.merckmanuals.com/professional/genitourinary-disorders/cystic-kidney-disease/autosomal-dominant-polycystic-kidney-disease-adpkd
    Autosomal dominant polycystic kidney disease (ADPKD) has an incidence of 1/1000 and accounts for about 5% of patients with end-stage kidney disease (ESKD) requiring renal replacement therapy. […] Clinical manifestations are rare before adulthood, but penetrance is essentially complete; all patients 80 years have some signs. […] Symptoms and signs include flank and abdominal pain, hematuria, and hypertension. […] Renal failure develops in 35 to 45% of patients with autosomal dominant polycystic kidney disease (ADPKD) by age 60. […] By age 75, 50 to 75% of patients require renal replacement therapy (dialysis or transplantation). […] Cyst and kidney volume measurements predict risk of progression to chronic kidney disease and end-stage kidney disease, often before changes in routine laboratory studies. […] ADPKD does not increase risk of renal cancer, but if patients with ADPKD develop renal cancer, it is more likely to be bilateral.
  • #22 Autosomal Dominant Polycystic Kidney Disease: Early intervention and lifestyle crucial – Mayo Clinic News Network
    https://newsnetwork.mayoclinic.org/discussion/autosomal-dominant-polycystic-kidney-disease-early-intervention-and-lifestyle-crucial/
    A change in one of two genes, PKD1 (78%) or PKD2 (15%), causes most cases of ADPKD. If a person has one of these changes, they have a 50% chance of passing the condition on to their children. […] The review provides practical guidance on managing blood pressure, sodium intake, hydration and lifestyle changes to delay complications such as kidney failure, liver cysts and hypertension to slow disease progression. […] A key tool in managing the disease is the Mayo Imaging Classification (MIC), which predicts the severity of the disease based on a person’s kidney size and growth rate. […] Roughly half of ADPKD patients need kidney replacement therapy by age 62. […] The review also explores the use of novel therapies, such as the drug tolvaptan, recently approved by the Food and Drug Administration to slow kidney function decline for high-risk adults at risk of rapidly progressing ADPKD.
  • #23 Determinants of Disease Progression in Autosomal Dominant Polycystic Kidney Disease
    https://www.mdpi.com/2075-4426/14/9/936
    Ultrasonography is preferred for diagnosing ADPKD due to its widespread availability, low cost, and non-invasiveness. However, physicians should consider genetic testing, particularly for individuals younger than 40 years and patients with no family history of the disease. Information on ADPKD in Africa is limited, with diagnosis and management frequently depending on data from developed countries. In Ethiopia, only one case series involving four ADPKD patients has been published, providing limited data. […] This study assessed the clinical profile and determinant factors contributing to renal disease progression. The mean age at diagnosis was 42.7 ± 12.7 years, with 43% reporting a positive family history of ADPKD. Approximately 22 patients (20%) developed end-stage renal disease, and 12 patients died. The mean estimated glomerular filtration rate at the initial visit was 72.4 mL/min/1.73 m². The key risk factors associated with disease progression included younger age at diagnosis [adjusted Odds Ratio (aOR): 0.92, 95% CI: 0.87–0.98; p = 0.007], male gender (aOR: 4.5, 95% CI: 1.3–15.95, p = 0.017), higher baseline systolic blood pressure (aOR: 1.05, 95% CI: 1.01–1.10, p = 0.026), and the presence of comorbidities (aOR: 3.95, 95% CI: 1.10–14.33, p = 0.037). The progression of renal disease in ADPKD patients significantly correlates with age at diagnosis, gender, presence of comorbidities, and higher baseline systolic blood pressure. These findings underscore the importance of early detection and management of hypertension and comorbidities in ADPKD patients to mitigate disease progression and improve treatment outcomes.
  • #24 ADPKD – Polycystic kidney disease | PKD treatment research | PKD Foundation
    https://pkdcure.org/about-the-disease/adpkd/
    Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common and serious genetic conditions. In ADPKD, fluid-filled cysts gradually develop and grow in both kidneys, eventually leading to kidney failure. Its the fourth leading cause of kidney failure, with more than 50% of patients facing this challenge by the age of 60. […] Unlike some genetic diseases, ADPKD doesnt skip generations, which means it often impacts multiple members of a family. About 10% of people diagnosed with ADPKD have no family history of the condition; this is called a spontaneous mutation. Once someone has ADPKD, whether inherited or from a new mutation, theres a 50% chance they will pass it on to each of their children. […] Ultrasounds, CTs, and MRIs are the three main tests used to diagnose ADPKD. DNA testing is also available. […] ADPKD is caused by mutations in two genes. Mutations of the first gene, PKD1, account for about 85% of patients while mutations of the second gene, PKD2, account for the remaining patients.
  • #25 Autosomal Dominant Polycystic Kidney: Epidemiology
    https://webpathology.com/images/genitourinary/non-neoplastic-kidney/cystic-diseases-of-kidney/58262
    Epidemiology: Autosomal dominant polycystic kidney disease (ADPKD) is a common cystic kidney disease and the most common hereditary kidney disease. It occurs in 1 to 2 per 1000 live births. It is one of the leading causes of renal failure and accounts for 5% to 10% of patients on dialysis or renal transplantation list. Most patients are between 40-50 yrs. of age at presentation. It is inherited as an autosomal dominant disorder with complete penetrance (by age 80 years). About 25% of patients have no family history and represent new mutations. There is no sex or racial predilection.
  • #26 Autosomal Dominant Polycystic Kidney Disease – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK532934/
    The diagnosis of autosomal dominant polycystic kidney disease is usually made by a combination of a positive family history, imaging with ultrasonography and/or CT scans, and clinical findings like hypertension and/or renal failure. […] The Renal Association Clinical Practice Guidelines recommend that parents or caregivers of individuals with ADPKD should receive education regarding the risk of inheriting ADPKD. […] Genetic testing for autosomal dominant polycystic kidney disease can be performed using direct DNA sequencing or by DNA gene linkage analysis. […] The primary indication for genetic testing is in young adults with negative ultrasonographic findings who have a family history suggestive of ADPKD and are being evaluated as potential kidney donors, considering having children or becoming pregnant. […] Patients should regularly follow up with nephrologists after diagnosis. Early diagnosis, risk assessment, appropriate pharmacotherapy, and proper management of nephrolithiasis risk factors, urinary citrate levels, hypertension, and proteinuria can help slow the progression of the disease.
  • #27 Polycystic Kidney Disease Workup: Approach Considerations, Ultrasonography, CT, MRI, and MRA
    https://emedicine.medscape.com/article/244907-workup
    Ultrasonography is the procedure of choice in the workup of patients with autosomal dominant polycystic kidney disease (ADPKD). It is also ideal for screening patients’ family members. […] Intracranial aneurysms are at least twice as common in patients with ADPKD as in the general population. On screening, intracranial aneurysms are found in approximately 10% of asymptomatic patients with ADPKD. […] Genetic testing is not part of regular clinical practice, but may be performed selectively. Genetic testing can accurately differentiate ADPKD, autosomal recessive polycystic kidney disease (ARPKD), and autosomal dominant polycystic liver disease (ADPLD). In ADPKD, the presence of either PKD1 or PKD2 subtypes changes the prognosis and may help guide clinical management.
  • #28
    https://www.nhs.uk/conditions/autosomal-dominant-polycystic-kidney-disease-adpkd/diagnosis/
    Autosomal dominant polycystic kidney disease (ADPKD) tends to be diagnosed in adults over 30 years of age because symptoms do not usually start before then. […] Screening people known to be at risk of developing ADPKD because they have a family history of the condition is a controversial issue in the medical community. […] Some argue that screening achieves little because there’s currently no treatment to stop ADPKD developing. […] Others argue that although you cannot prevent ADPKD, screening can help identify cysts, and it’s possible to treat the high blood pressure (hypertension) associated with ADPKD, which may reduce the person’s risk of developing cardiovascular disease. […] If the diagnosis is known, complications will not come as a surprise and can be treated promptly and appropriately. […] There’s also now a treatment called tolvaptan, which can slow the growth of cysts and may be beneficial in some cases.
  • #29 International consensus statement on the diagnosis and management of autosomal dominant polycystic kidney disease in children and young people | Nature Reviews Nephrology
    https://www.nature.com/articles/s41581-019-0155-2
    For asymptomatic minors at risk of ADPKD, ongoing surveillance (repeated screening for treatable disease manifestations without diagnostic testing) or immediate diagnostic screening are equally valid clinical approaches. Ultrasonography is the current radiological method of choice for screening. Sonographic detection of one or more cysts in an at-risk child is highly suggestive of ADPKD, but a negative scan cannot rule out ADPKD in childhood. Genetic testing is recommended for infants with very-early-onset symptomatic disease and for children with a negative family history and progressive disease. Children with a positive family history and either confirmed or unknown disease status should be monitored for hypertension (preferably by ambulatory blood pressure monitoring) and albuminuria. […] Currently, vasopressin antagonists should not be offered routinely but off-label use can be considered in selected children. No consensus was reached on the use of statins, but mTOR inhibitors and somatostatin analogues are not recommended. Children with ADPKD should be strongly encouraged to achieve the low dietary salt intake that is recommended for all children.
  • #30 Autosomal dominant polycystic kidney disease (ADPKD) in adults: Epidemiology, clinical presentation, and diagnosis – UpToDate
    https://www.uptodate.com/contents/autosomal-dominant-polycystic-kidney-disease-adpkd-in-adults-epidemiology-clinical-presentation-and-diagnosis/print
    The clinical presentation, diagnosis, and management of ADPKD in children is discussed elsewhere. […] The diagnosis of ADPKD should be suspected in patients with clinical features mentioned above and in those with a family history of ADPKD. […] The initial step toward diagnosis of ADPKD is to obtain a detailed family history from the patient. The diagnosis of ADPKD is confirmed primarily by imaging. Genetic testing is generally reserved for atypical cases or to rule out ADPKD in a young potential kidney donor. […] Diagnostic counseling by experienced staff is essential for all patients with suspected ADPKD prior to diagnostic testing.
  • #31 The natural history of autosomal dominant polycystic kidney disease. A strategy for grouping families and mutations | Nefrología
    https://www.revistanefrologia.com/en-the-natural-history-autosomal-dominant-articulo-S2013251423000640
    ADPKD is an autosomal dominant genetic disease caused mainly by mutations in 2 genes, PKD1 and PKD2. […] The most rigorous study, conducted in 2020 by the Mayo Clinic (Olmsted County), calculated the prevalence of the definitive/probable disease at 68 per 100,000 inhabitants. […] The health system needs strategies that offer these families a response including primary prevention of the disease with PGD techniques. […] Renal prognosis depends on the mutation, patients with mutations in PKD1 have terminal CKD at a median age of 54.3 years (compared to 74 years in PKD2). […] In summary, the renal survival of ADPKD in the province of Crdoba is comparable to that published in the literature and is significantly worse in PKD1 (57.5 years) than in PKD2 (70 years). The prevalence of ADPKD was 61 per 100,000.
  • #32 Autosomal Dominant Polycystic Kidney Disease: Early intervention and lifestyle crucial – Mayo Clinic News Network
    https://newsnetwork.mayoclinic.org/discussion/autosomal-dominant-polycystic-kidney-disease-early-intervention-and-lifestyle-crucial/
    The review recommends that a kidney specialist who manages patients with ADPKD should share decision-making with the patient regarding genetic testing, treatments, monitoring and aneurysm screening. […] It also says patients with ADPKD should be aware of the symptoms of ruptured aneurysms (sudden, severe headache) and the need for immediate medical attention should they experience those symptoms.
  • #33 Management of Autosomal Dominant Polycystic Kidney Disease (ADPKD) Dur | IJWH
    https://www.dovepress.com/management-of-autosomal-dominant-polycystic-kidney-disease-adpkd-durin-peer-reviewed-fulltext-article-IJWH
    Autosomal dominant polycystic kidney disease (ADPKD) affects up to 1 in 1000 people. […] The disease is characterized by the progressive development of cysts throughout the renal parenchyma due to inherited pathogenic variants in genes including PKD1 or PKD2 and eventually leads to gradual loss of renal function, along with manifestations in other organ systems such as hepatic cysts and intracranial aneurysms. […] ADPKD management has advanced considerably in recent years due to genetic testing availability, pre-implantation genetic diagnosis technology and new therapeutic agents. […] Renal disease in pregnancy is recognised as an important risk factor for adverse maternal and fetal outcome. […] Women with ADPKD and health professionals face multiple challenges in optimising outcomes during the pre-pregnancy, pregnancy and post-partum periods.
  • #34 Autosomal dominant polycystic kidney disease | Radiology Reference Article | Radiopaedia.org
    https://radiopaedia.org/articles/autosomal-dominant-polycystic-kidney-disease-1?case_id=autosomal-dominant-polycystic-kidney-disease-38
    Autosomal dominant polycystic kidney disease is one of the most common serious hereditary diseases, found in 1:400 to 1:1000 individuals, and is by far the most common inherited cause of end-stage renal failure (ESRF). It accounts for 4-10% of all cases of ESRF. […] Several conditions are well recognized as being associated with ADPKD: cerebral berry aneurysms found in 6% of patients with ADPKD without a family history of aneurysms, found in up to 22% of patients with ADPKD with a family history; intracranial dolichoectasia: 2-3%; hypertension: up to 80% of adults; colonic diverticulosis; small bowel diverticula (perhaps); bicuspid aortic valve; mitral valve prolapse: up to 25%; aortic dissection; multiple biliary hamartomas (von Meyenberg complexes); cysts in other organs, with liver being the most common, affecting 75% by age 60 years. […] Diagnosis is usually made by imaging at-risk individuals. The height-adjusted total kidney volume for both kidneys and the quantity of remaining normal renal tissue are the best indicators of future renal function and the need for vasopressin receptor antagonists.
  • #35 Management of Autosomal Dominant Polycystic Kidney Disease (ADPKD) Dur | IJWH
    https://www.dovepress.com/management-of-autosomal-dominant-polycystic-kidney-disease-adpkd-durin-peer-reviewed-fulltext-article-IJWH
    Women with ADPKD may have earlier-stage CKD during pregnancy with hypertension, proteinuria, and mild renal impairment. […] The development of preeclampsia in women with ADPKD significantly increased the risk of chronic hypertension and reduced the age at which chronic hypertension was diagnosed. […] In women with CKD, specialist input into the additional maternal risks (ie of AKI and irreversible progression of CKD) is recommended and delivery plans must be individualised. […] The current Pharmaceutical Benefit Scheme indications in Australia for tolvaptan are for use in adult patients with ADPKD with eGFR between 3089mL/min/1.73m2 with rapidly decreasing eGFR (5mL/min/1.73m2/year). […] There is evidence to suggest there are long-term impacts of pregnancy on maternal health and ADPKD. […] Some data suggest in women with ADPKD, having more than three or four pregnancy is associated with accelerated renal impairment. […] However, reassuringly, if a woman with ADPKD has an uncomplicated pregnancy, subsequent pregnancies are likely to also progress without complication.
  • #36
    https://link.springer.com/article/10.1007/s10157-025-02634-7
    Tolvaptan, a vasopressin type 2 receptor antagonist, has been used to treat autosomal dominant polycystic kidney disease in Japan since 2014. […] This long-term, real-world, post-marketing surveillance (PMS) was conducted in Japan from March 2014 to March 2022. […] Since 2014, post-marketing surveillance (PMS), termed SLOW-PKD surveillance (Samsca Long-term surveillance of tolvaptan in PKD patients in real-world setting), has been conducted to evaluate the safety and efficacy of tolvaptan in real-world clinical settings in Japan and the first five-year interim results have been reported. […] The overall safety profile of tolvaptan was consistent with that seen in previous studies. […] In conclusion, the safety and efficacy of tolvaptan in patients with ADPKD were assessed in real-world conditions. Comparable safety and efficacy for TKV was observed in relation to the previous two, pivotal randomized control trials.
  • #37 Demographic, diagnostic and therapeutic characteristics of autosomal dominant polycystic kidney disease in Ghana | BMC Nephrology | Full Text
    https://bmcnephrol.biomedcentral.com/articles/10.1186/s12882-021-02336-8
    Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the commonest of the hereditary kidney diseases and mostly ensues in utero with signs delayed until after several decades. […] ADPKD is the fourth highest cause of CKD in Ghana and accounts for about 5-10% of ESRD patients worldwide. […] Diagnosis of the ADPKD is based on family history, clinical presentations and radiological imaging. […] The diagnostic and therapeutic characteristics of the disease need to be clearly defined especially in our context. […] In Ghana ADPKD mostly occurs in people of age 31 years and above with a higher male preponderance. Clinical features include flank and abdominal pain, bipedal swelling, headache, amongst others. Uremia, hematuria, proteinuria and decreased eGFR are some of the biochemical derangements presented by patients with this condition. Hypertension turned out to be the most common comorbidity as well as complication associated with ADPKD with proteinuria, hematuria, UTIs, anemia amongst others developing as disease progresses. The therapeutic interventions mostly involve conservative therapy to manage symptoms and other comorbid conditions and rarely renal replacement therapy (RRT).
  • #38 RAPID-ADPKD (Retrospective epidemiological study of Asia-Pacific patients with rapId Disease progression of Autosomal Dominant Polycystic Kidney Disease): study protocol for a multinational, retrospective cohort study | BMJ Open
    https://bmjopen.bmj.com/content/10/2/e034103
    Patients with autosomal dominant polycystic kidney disease (ADPKD) reach end-stage renal disease in their fifth decade on average. […] However, there are no epidemiological data on the clinical manifestations and disease progression of patients with ADPKD from the Asia-Pacific region. […] The RAPID-ADPKD (Retrospective epidemiological study of Asia-Pacific patients with rapId Disease progression of Autosomal Dominant Polycystic Kidney Disease) study is a multinational, retrospective, observational cohort study of patients with ADPKD in the Asia-Pacific region (Australia, China, Hong Kong, South Korea, Taipei and Turkey). […] The aim of this multinational, multicentre, retrospective cohort study was to determine the clinical characteristics of rapidly progressing patients with ADPKD in the Asia-Pacific region using the current recommendation for identification of rapid progression.
  • #39 RAPID-ADPKD (Retrospective epidemiological study of Asia-Pacific patients with rapId Disease progression of Autosomal Dominant Polycystic Kidney Disease): study protocol for a multinational, retrospective cohort study | BMJ Open
    https://bmjopen.bmj.com/content/10/2/e034103
    This study will include patients with ADPKD from six different countries in the Asia-Pacific regionAustralia, China, Hong Kong, South Korea, Taiwan and Turkeyand hence will have heterogeneous ADPKD population consisting of different races, such as Han Chinese, Korean, Turks, Kurds, Taiwanese aborigines, Caucasians and so on. […] Using data from six Asia-Pacific countries, we aim to identify the risk factors for the rapid progression of disease in patients with ADPKD in the Asia-Pacific. […] Despite some limitations due to the nature of a multinational, retrospective observational study, we expect that our results will provide valuable knowledge on the clinical characteristics and the rapid progression of Asian patients with ADPKD, and for the first time will provide basic information on current practice in the Asia-Pacific region.
  • #40 ASSOCIATION OF AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE WITH CARDIOVASCULAR DISEASE: A US-NATIONAL INPATIENT PERSPECTIVE – SHM Abstracts | Society of Hospital Medicine
    https://shmabstracts.mystagingwebsite.com/abstract/association-of-autosomal-dominant-polycystic-kidney-disease-with-cardiovascular-disease-a-us-national-inpatient-perspective/
    Data on epidemiology of cardiovascular diseases (CVD) in patients with autosomal dominant polycystic kidney disease (ADPKD) are limited. […] The prevalence of CVD in the study population was 42.6%. […] The prevalence of CVD increased with the severity of renal dysfunction (RD). […] The prevalence of CVD is high among patients with ADPKD, and the most important risk factor associated with CVD is severity of RD. […] History of CVD is the strongest predictor of mortality among patients with ADPKD.
  • #41 Lamellar Ichthyosis Market Insights: Key Growth Drivers,
    https://www.openpr.com/news/4002935/lamellar-ichthyosis-market-insights-key-growth-drivers
    The Global Autosomal Dominant Polycystic Kidney Disease Market is estimated to be valued at USD 1.66 Bn in 2025 and is expected to reach USD 2.56 Bn by 2032, growing at a compound annual growth rate (CAGR) of 6.4% from 2025 to 2032. According to the latest research from CoherentMI, the Autosomal Dominant Polycystic Kidney Disease Market is projected to experience significant growth between 2025 and 2032. […] This market intelligence report offers in-depth analysis based on thorough research, highlighting current trends, financial performance, and historical data evaluation.

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