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Autosomal Dominant Kidney Disease (ADPKD) is the most common inherited kidney disease characterized by progressive development and growth of numerous bilateral kidney cysts, leading to loss of kidney function.1-4 Approximately 140,000 individuals are diagnosed with ADPKD in the United States.5 The most common mutations causing  ADPKD are to the PKD1 or PKD2 genes, encoding for the polycystin-1 or polycystin-2 proteins, respectively.1,2

A hallmark of ADPKD is an increase in glycosphingolipids (GSLs) in the primary cilia, sensory structures on the kidney tubular cells, which disrupt cellular signaling.  This abnormal accumulation of GSLs promotes the development of fluid-filled cysts that increase total kidney volume (TKV), destroy neighboring functional nephrons and reduce kidney function often leading to kidney failure or end-stage kidney disease (ESKD).6-8 The most common form of ADPKD, classical ADPKD, presents with bilateral kidney cysts.1

 

GSL ADPKD

 

Up to 70% of patients with ADPKD develop kidney failure, requiring dialysis or kidney transplant by the age of 65.9 It is estimated that ADPKD is responsible for up to 5% of patients with ESKD.2

 

Inheritance

ADPKD is an autosomal dominant genetic disease and manifests with a range of phenotypes.2 Each child with an affected parent has a 50% chance of inheriting the mutation and developing the disease.10,11

 

Inheritance ADPKD

 

 

1. Cornec-Le Gall E, Alam A, Perrone RD. Autosomal dominant polycystic kidney disease. Lancet. 2019 Mar 2;393(10174):919-935.
2. Chebib FT, Torres VE. Autosomal Dominant Polycystic Kidney Disease: Core Curriculum 2016. Am J Kidney Dis. 2016;67(5):792-810.
3. Chapman AB, Devuyst O, Eckardt KU et al. Autosomal-dominant polycystic kidney disease (ADPKD): executive summary from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference. Kidney Int. 2015;88(1):17-27.
4. Antignac C, Calvet JP, Germino GG et al. The Future of Polycystic Kidney Disease Research--As Seen By the 12 Kaplan Awardees. J Am Soc Nephrol. 2015;26(9):2081-2095.
5. Willey C, Kamat S, Stellhorn R et al. Analysis of Nationwide Data to Determine the Incidence and Diagnosed Prevalence of Autosomal Dominant Polycystic Kidney Disease in the USA: 2013-2015. Kidney Dis (Basel). 2019;5(2):107-117.
6. Natoli TA, Modur V, Ibraghimov-Beskrovnaya O. Glycosphingolipid metabolism and polycystic kidney disease. Cell Signal. 2020;69:109526.
7. Sun Y, Zhou H, Yang B. Drug discovery for polycystic kidney disease. Acta Pharmacologica Sinica. 2011;32(6):805-816.
8. Grantham JJ, Torres VE. The importance of total kidney volume in evaluating progression of polycystic kidney disease. Nat Rev Nephrol. 2016;12(11):667-677.
9. Oberdhan D, Cole JC, Krasa HB et al. Development of the Autosomal Dominant Polycystic Kidney Disease Impact Scale: A New Health-Related Quality-of-Life Instrument. Am J Kidney Dis. 2018 Feb;71(2):225-235.
10. Harris PC, Torres VE. Polycystic Kidney Disease, Autosomal Dominant. Gene Reviews. July 2018; http://www.ncbi.nlm.nih.gov/books/NBK1246/.
11. Autosomal dominant polycystic kidney disease. NIH. https://rarediseases.info.nih.gov/diseases/10413/autosmal-domi-nant-polycystic-kidney-disease. Accessed November 9, 2020.

 

 

 

 

 

 

 

Last Updated: Mar 3, 2021
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