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Autosomal dominant polycystic kidney disease(ADPKD)

MedGen UID:
88404
Concept ID:
C0085413
Disease or Syndrome
Synonym: ADPKD
SNOMED CT: Autosomal dominant polycystic kidney disease (765330003); ADPKD - autosomal dominant polycystic kidney disease (765330003)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Related genes: GANAB, PKD2, PKD1
 
Monarch Initiative: MONDO:0004691
OMIM®: 173900
Orphanet: ORPHA730

Disease characteristics

Excerpted from the GeneReview: Polycystic Kidney Disease, Autosomal Dominant
Autosomal dominant polycystic kidney disease (ADPKD) is generally a late-onset multisystem disorder characterized by bilateral kidney cysts, liver cysts, and an increased risk of intracranial aneurysms. Other manifestations include: cysts in the pancreas, seminal vesicles, and arachnoid membrane; dilatation of the aortic root and dissection of the thoracic aorta; mitral valve prolapse; and abdominal wall hernias. Kidney manifestations include early-onset hypertension, kidney pain, and kidney insufficiency. Approximately 50% of individuals with ADPKD have end-stage kidney disease (ESKD) by age 60 years. The prevalence of liver cysts increases with age and occasionally results in clinically significant severe polycystic liver disease (PLD), most often in females. Overall, the prevalence of intracranial aneurysms is fivefold higher than in the general population and further increased in those with a positive family history of aneurysms or subarachnoid hemorrhage. There is substantial variability in the severity of kidney disease and other extra-kidney manifestations. [from GeneReviews]
Authors:
Peter C Harris  |  Vicente E Torres   view full author information

Additional description

From MedlinePlus Genetics
Polycystic kidney disease is a disorder that affects the kidneys and other organs. Clusters of fluid-filled sacs, called cysts, develop in the kidneys and interfere with their ability to filter waste products from the blood. The growth of cysts causes the kidneys to become enlarged and can lead to kidney failure. Cysts may also develop in other organs, particularly the liver.

The two major forms of polycystic kidney disease are distinguished by the usual age of onset and the pattern in which it is passed through families. The autosomal dominant form (sometimes called ADPKD) has signs and symptoms that typically begin in adulthood, although cysts in the kidney are often present from birth or childhood. Autosomal dominant polycystic kidney disease can be further divided into type 1 and type 2, depending on the genetic cause. The autosomal recessive form of polycystic kidney disease (sometimes called ARPKD) is much rarer and is often lethal early in life. The signs and symptoms of this condition are usually apparent at birth or in early infancy.

Frequent complications of polycystic kidney disease include dangerously high blood pressure (hypertension), pain in the back or sides, blood in the urine (hematuria), recurrent urinary tract infections, kidney stones, and heart valve abnormalities. Additionally, people with polycystic kidney disease have an increased risk of an abnormal bulging (an aneurysm) in a large blood vessel called the aorta or in blood vessels at the base of the brain. Aneurysms can be life-threatening if they tear or rupture.  https://medlineplus.gov/genetics/condition/polycystic-kidney-disease

Professional guidelines

PubMed

Reiterová J, Tesař V
Int J Mol Sci 2022 Mar 19;23(6) doi: 10.3390/ijms23063317. PMID: 35328738Free PMC Article
Raina R, Chakraborty R, Sethi SK, Kumar D, Gibson K, Bergmann C
Am J Kidney Dis 2021 Jul;78(1):125-141. Epub 2021 Jan 6 doi: 10.1053/j.ajkd.2020.10.021. PMID: 33418012
Chebib FT, Perrone RD, Chapman AB, Dahl NK, Harris PC, Mrug M, Mustafa RA, Rastogi A, Watnick T, Yu ASL, Torres VE
J Am Soc Nephrol 2018 Oct;29(10):2458-2470. Epub 2018 Sep 18 doi: 10.1681/ASN.2018060590. PMID: 30228150Free PMC Article

Recent clinical studies

Etiology

Chebib FT, Torres VE
Am J Kidney Dis 2021 Aug;78(2):282-292. Epub 2021 Mar 8 doi: 10.1053/j.ajkd.2020.12.020. PMID: 33705818
Perumareddi P, Trelka DP
Prim Care 2020 Dec;47(4):673-689. doi: 10.1016/j.pop.2020.08.010. PMID: 33121636
Cornec-Le Gall E, Alam A, Perrone RD
Lancet 2019 Mar 2;393(10174):919-935. Epub 2019 Feb 25 doi: 10.1016/S0140-6736(18)32782-X. PMID: 30819518
Pei Y, Obaji J, Dupuis A, Paterson AD, Magistroni R, Dicks E, Parfrey P, Cramer B, Coto E, Torra R, San Millan JL, Gibson R, Breuning M, Peters D, Ravine D
J Am Soc Nephrol 2009 Jan;20(1):205-12. Epub 2008 Oct 22 doi: 10.1681/ASN.2008050507. PMID: 18945943Free PMC Article
Rossetti S, Consugar MB, Chapman AB, Torres VE, Guay-Woodford LM, Grantham JJ, Bennett WM, Meyers CM, Walker DL, Bae K, Zhang QJ, Thompson PA, Miller JP, Harris PC; CRISP Consortium
J Am Soc Nephrol 2007 Jul;18(7):2143-60. Epub 2007 Jun 20 doi: 10.1681/ASN.2006121387. PMID: 17582161

Diagnosis

Lanktree MB, Haghighi A, di Bari I, Song X, Pei Y
Clin J Am Soc Nephrol 2021 May 8;16(5):790-799. Epub 2020 Jul 20 doi: 10.2215/CJN.02320220. PMID: 32690722Free PMC Article
Cornec-Le Gall E, Alam A, Perrone RD
Lancet 2019 Mar 2;393(10174):919-935. Epub 2019 Feb 25 doi: 10.1016/S0140-6736(18)32782-X. PMID: 30819518
Audrézet MP, Cornec-Le Gall E, Chen JM, Redon S, Quéré I, Creff J, Bénech C, Maestri S, Le Meur Y, Férec C
Hum Mutat 2012 Aug;33(8):1239-50. Epub 2012 May 24 doi: 10.1002/humu.22103. PMID: 22508176
Pei Y, Obaji J, Dupuis A, Paterson AD, Magistroni R, Dicks E, Parfrey P, Cramer B, Coto E, Torra R, San Millan JL, Gibson R, Breuning M, Peters D, Ravine D
J Am Soc Nephrol 2009 Jan;20(1):205-12. Epub 2008 Oct 22 doi: 10.1681/ASN.2008050507. PMID: 18945943Free PMC Article
Rossetti S, Consugar MB, Chapman AB, Torres VE, Guay-Woodford LM, Grantham JJ, Bennett WM, Meyers CM, Walker DL, Bae K, Zhang QJ, Thompson PA, Miller JP, Harris PC; CRISP Consortium
J Am Soc Nephrol 2007 Jul;18(7):2143-60. Epub 2007 Jun 20 doi: 10.1681/ASN.2006121387. PMID: 17582161

Therapy

Reiterová J, Tesař V
Int J Mol Sci 2022 Mar 19;23(6) doi: 10.3390/ijms23063317. PMID: 35328738Free PMC Article
Chebib FT, Torres VE
Am J Kidney Dis 2021 Aug;78(2):282-292. Epub 2021 Mar 8 doi: 10.1053/j.ajkd.2020.12.020. PMID: 33705818
Nowak KL, Hopp K
Clin J Am Soc Nephrol 2020 Apr 7;15(4):577-584. Epub 2020 Feb 21 doi: 10.2215/CJN.13291019. PMID: 32086281Free PMC Article
Cornec-Le Gall E, Alam A, Perrone RD
Lancet 2019 Mar 2;393(10174):919-935. Epub 2019 Feb 25 doi: 10.1016/S0140-6736(18)32782-X. PMID: 30819518
Torres VE, Chapman AB, Devuyst O, Gansevoort RT, Grantham JJ, Higashihara E, Perrone RD, Krasa HB, Ouyang J, Czerwiec FS; TEMPO 3:4 Trial Investigators
N Engl J Med 2012 Dec 20;367(25):2407-18. Epub 2012 Nov 3 doi: 10.1056/NEJMoa1205511. PMID: 23121377Free PMC Article

Prognosis

Roediger R, Dieterich D, Chanumolu P, Deshpande P
Clin Liver Dis 2022 May;26(2):229-243. Epub 2022 Apr 1 doi: 10.1016/j.cld.2022.01.009. PMID: 35487607
Chebib FT, Torres VE
Am J Kidney Dis 2021 Aug;78(2):282-292. Epub 2021 Mar 8 doi: 10.1053/j.ajkd.2020.12.020. PMID: 33705818
Lanktree MB, Haghighi A, di Bari I, Song X, Pei Y
Clin J Am Soc Nephrol 2021 May 8;16(5):790-799. Epub 2020 Jul 20 doi: 10.2215/CJN.02320220. PMID: 32690722Free PMC Article
Cornec-Le Gall E, Alam A, Perrone RD
Lancet 2019 Mar 2;393(10174):919-935. Epub 2019 Feb 25 doi: 10.1016/S0140-6736(18)32782-X. PMID: 30819518
Torres VE, Harris PC, Pirson Y
Lancet 2007 Apr 14;369(9569):1287-1301. doi: 10.1016/S0140-6736(07)60601-1. PMID: 17434405

Clinical prediction guides

Ponticelli C, Moroni G, Reggiani F
Int J Mol Sci 2023 Sep 28;24(19) doi: 10.3390/ijms241914666. PMID: 37834113Free PMC Article
Chang AR, Moore BS, Luo JZ, Sartori G, Fang B, Jacobs S, Abdalla Y, Taher M, Carey DJ, Triffo WJ, Singh G, Mirshahi T
JAMA 2022 Dec 27;328(24):2412-2421. doi: 10.1001/jama.2022.22847. PMID: 36573973Free PMC Article
Chebib FT, Torres VE
Am J Kidney Dis 2021 Aug;78(2):282-292. Epub 2021 Mar 8 doi: 10.1053/j.ajkd.2020.12.020. PMID: 33705818
Cornec-Le Gall E, Audrézet MP, Rousseau A, Hourmant M, Renaudineau E, Charasse C, Morin MP, Moal MC, Dantal J, Wehbe B, Perrichot R, Frouget T, Vigneau C, Potier J, Jousset P, Guillodo MP, Siohan P, Terki N, Sawadogo T, Legrand D, Menoyo-Calonge V, Benarbia S, Besnier D, Longuet H, Férec C, Le Meur Y
J Am Soc Nephrol 2016 Mar;27(3):942-51. Epub 2015 Jul 6 doi: 10.1681/ASN.2015010016. PMID: 26150605Free PMC Article
Rossetti S, Consugar MB, Chapman AB, Torres VE, Guay-Woodford LM, Grantham JJ, Bennett WM, Meyers CM, Walker DL, Bae K, Zhang QJ, Thompson PA, Miller JP, Harris PC; CRISP Consortium
J Am Soc Nephrol 2007 Jul;18(7):2143-60. Epub 2007 Jun 20 doi: 10.1681/ASN.2006121387. PMID: 17582161

Recent systematic reviews

Li X, Li W, Li Y, Dong C, Zhu P
Nefrologia (Engl Ed) 2023 Nov-Dec;43(6):731-741. Epub 2023 May 5 doi: 10.1016/j.nefroe.2023.04.002. PMID: 37150675
Gittus M, Harris T, Ong AC
Adv Kidney Dis Health 2023 May;30(3):294-302. doi: 10.1053/j.akdh.2023.01.002. PMID: 37088530
Raina R, Shah R, Hong G, Bhatt GC, Abboud B, Jain R, Chanchlani R, Sethi SK
Pediatr Nephrol 2023 Sep;38(9):2957-2972. Epub 2023 Feb 22 doi: 10.1007/s00467-023-05893-2. PMID: 36811694
Marlais M, Cuthell O, Langan D, Dudley J, Sinha MD, Winyard PJ
Arch Dis Child 2016 Dec;101(12):1142-1147. Epub 2016 Jun 10 doi: 10.1136/archdischild-2015-310221. PMID: 27288429
Vlak MH, Algra A, Brandenburg R, Rinkel GJ
Lancet Neurol 2011 Jul;10(7):626-36. doi: 10.1016/S1474-4422(11)70109-0. PMID: 21641282

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