Autosomal Dominant Polycystic Kidney Disease
- PMID: 30422529
- Bookshelf ID: NBK532934
Autosomal Dominant Polycystic Kidney Disease
Excerpt
Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic cause of renal failure worldwide. ADPKD is a multisystem and progressive inherited disorder with renal cyst formation, kidney enlargement, and extrarenal organ involvement (eg, liver, pancreas, spleen, cardiac, and arachnoid membranes).
In the adult population, ADPKD occurs in all races and is responsible for 6% to 10% of all patients on dialysis in the United States. Cysts may be detected in childhood or even in utero, but clinical manifestations do not typically appear until the third or fourth decade of life.
Autosomal recessive polycystic kidney disease (ARPKD) is very rare and affects 1 in 20,000 - 40,000 live births. ARPKD has a much more severe clinical course and is caused by mutations in polycystic kidney and hepatic disease 1 (PKHD1), which encodes fibrocystin. ARPKD usually presents in childhood and often causes death in childhood or perinatally. Please see StatPearl's companion reference article,
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References
-
- Subramanian S, Leslie SW, Ahmad T. StatPearls [Internet] StatPearls Publishing; Treasure Island (FL): 2024. Mar 3, Autosomal Recessive Polycystic Kidney Disease. - PubMed
-
- Porath B, Gainullin VG, Cornec-Le Gall E, Dillinger EK, Heyer CM, Hopp K, Edwards ME, Madsen CD, Mauritz SR, Banks CJ, Baheti S, Reddy B, Herrero JI, Bañales JM, Hogan MC, Tasic V, Watnick TJ, Chapman AB, Vigneau C, Lavainne F, Audrézet MP, Ferec C, Le Meur Y, Torres VE, Genkyst Study Group, HALT Progression of Polycystic Kidney Disease Group. Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease. Harris PC. Mutations in GANAB, Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease. Am J Hum Genet. 2016 Jun 02;98(6):1193-1207. - PMC - PubMed
-
- Steele C, You Z, Gitomer BY, Brosnahan GM, Abebe KZ, Braun WE, Chapman AB, Harris PC, Perrone RD, Steinman TI, Torres VE, Yu ASL, Chonchol M, Nowak KL. PKD1 Compared With PKD2 Genotype and Cardiac Hospitalizations in the Halt Progression of Polycystic Kidney Disease Studies. Kidney Int Rep. 2022 Jan;7(1):117-120. - PMC - PubMed
-
- Shaw C, Simms RJ, Pitcher D, Sandford R. Epidemiology of patients in England and Wales with autosomal dominant polycystic kidney disease and end-stage renal failure. Nephrol Dial Transplant. 2014 Oct;29(10):1910-8. - PubMed
-
- Budhram B, Akbari A, Brown P, Biyani M, Knoll G, Zimmerman D, Edwards C, McCormick B, Bugeja A, Sood MM. End-Stage Kidney Disease in Patients With Autosomal Dominant Polycystic Kidney Disease: A 12-Year Study Based on the Canadian Organ Replacement Registry. Can J Kidney Health Dis. 2018;5:2054358118778568. - PMC - PubMed
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