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Polycystic kidney disease 6 with or without polycystic liver disease(PKD6)

MedGen UID:
1648469
Concept ID:
C4748044
Disease or Syndrome
Synonyms: PKD6; POLYCYSTIC KIDNEY DISEASE 6 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE
 
Gene (location): DNAJB11 (3q27.3)
 
Monarch Initiative: MONDO:0054842
OMIM®: 618061

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 OMIM
Polycystic kidney disease-6 is an autosomal dominant renal disease characterized by the development of multiple small renal cysts and progression to renal insufficiency or end-stage renal disease (ESRD) most often after the sixth decade. The cysts are generally small (less than 1 to 3 cm) and the kidneys are not massively enlarged. Some patients may have evidence of chronic interstitial fibrosis and about half develop liver cysts (summary by Cornec-Le Gall et al., 2018). The renal interstitial fibrosis suggests overlap with autosomal dominant tubulointerstitial kidney disease (ADTKD; see 162000) (summary by Devuyst et al., 2019). For a discussion of genetic heterogeneity of polycystic kidney disease, see PKD1 (173900).  http://www.omim.org/entry/618061

Clinical features

From HPO
Polycystic kidney disease
MedGen UID:
9639
Concept ID:
C0022680
Disease or Syndrome
The presence of multiple cysts in both kidneys.
Decreased glomerular filtration rate
MedGen UID:
163428
Concept ID:
C0853068
Finding
An abnormal reduction in the volume of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time.
Renal insufficiency
MedGen UID:
332529
Concept ID:
C1565489
Disease or Syndrome
A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.
Stage 5 chronic kidney disease
MedGen UID:
384526
Concept ID:
C2316810
Disease or Syndrome
A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine.
Hypertensive disorder
MedGen UID:
6969
Concept ID:
C0020538
Disease or Syndrome
The presence of chronic increased pressure in the systemic arterial system.
Hepatic cysts
MedGen UID:
82761
Concept ID:
C0267834
Disease or Syndrome
A cystic lesion located in the liver.
Gout
MedGen UID:
42280
Concept ID:
C0018099
Disease or Syndrome
Recurrent attacks of acute inflammatory arthritis of a joint or set of joints caused by elevated levels of uric acid in the blood which crystallize and are deposited in joints, tendons, and surrounding tissues.

Professional guidelines

PubMed

European Association for the Study of the Liver. Electronic address: easloffice@easloffice.eu; European Association for the Study of the Liver
J Hepatol 2022 Oct;77(4):1083-1108. Epub 2022 Jun 18 doi: 10.1016/j.jhep.2022.06.002. PMID: 35728731
Reiterová J, Tesař V
Int J Mol Sci 2022 Mar 19;23(6) doi: 10.3390/ijms23063317. PMID: 35328738Free PMC Article
Ferrer Inaebnit E, Molina Romero FX, Segura Sampedro JJ, González Argenté X, Morón Canis JM
Rev Esp Enferm Dig 2022 Jan;114(1):35-41. doi: 10.17235/reed.2021.7896/2021. PMID: 34034501

Recent clinical studies

Etiology

Camargo JT, González CA, Herrera L, Yomayusa-González N, Ibañez M, Valbuena-García AM, Acuña-Merchán L
BMC Nephrol 2023 Jul 17;24(1):211. doi: 10.1186/s12882-023-03266-3. PMID: 37460967Free PMC Article
Mekahli D, Guay-Woodford LM, Cadnapaphornchai MA, Greenbaum LA, Litwin M, Seeman T, Dandurand A, Shi L, Sikes K, Shoaf SE, Schaefer F
Clin J Am Soc Nephrol 2023 Jan 1;18(1):36-46. doi: 10.2215/CJN.0000000000000022. PMID: 36719158Free PMC Article
Carrera P, Calzavara S, Magistroni R, den Dunnen JT, Rigo F, Stenirri S, Testa F, Messa P, Cerutti R, Scolari F, Izzi C, Edefonti A, Negrisolo S, Benetti E, Alibrandi MT, Manunta P, Boletta A, Ferrari M
Sci Rep 2016 Aug 8;6:30850. doi: 10.1038/srep30850. PMID: 27499327Free PMC Article
Hwang YH, Conklin J, Chan W, Roslin NM, Liu J, He N, Wang K, Sundsbak JL, Heyer CM, Haider M, Paterson AD, Harris PC, Pei Y
J Am Soc Nephrol 2016 Jun;27(6):1861-8. Epub 2015 Oct 9 doi: 10.1681/ASN.2015060648. PMID: 26453610Free PMC Article
Cornec-Le Gall E, Audrézet MP, Chen JM, Hourmant M, Morin MP, Perrichot R, Charasse C, Whebe B, Renaudineau E, Jousset P, Guillodo MP, Grall-Jezequel A, Saliou P, Férec C, Le Meur Y
J Am Soc Nephrol 2013 May;24(6):1006-13. Epub 2013 Feb 21 doi: 10.1681/ASN.2012070650. PMID: 23431072Free PMC Article

Diagnosis

Camargo JT, González CA, Herrera L, Yomayusa-González N, Ibañez M, Valbuena-García AM, Acuña-Merchán L
BMC Nephrol 2023 Jul 17;24(1):211. doi: 10.1186/s12882-023-03266-3. PMID: 37460967Free PMC Article
Ambrosini E, Montanari F, Cristalli CP, Capelli I, La Scola C, Pasini A, Graziano C
Genes (Basel) 2023 Jun 7;14(6) doi: 10.3390/genes14061230. PMID: 37372410Free PMC Article
van Aerts RMM, van de Laarschot LFM, Banales JM, Drenth JPH
J Hepatol 2018 Apr;68(4):827-837. Epub 2017 Nov 24 doi: 10.1016/j.jhep.2017.11.024. PMID: 29175241
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
Park EY, Woo YM, Park JH
BMB Rep 2011 Jun;44(6):359-68. doi: 10.5483/BMBRep.2011.44.6.359. PMID: 21699747

Therapy

Mekahli D, Guay-Woodford LM, Cadnapaphornchai MA, Greenbaum LA, Litwin M, Seeman T, Dandurand A, Shi L, Sikes K, Shoaf SE, Schaefer F
Clin J Am Soc Nephrol 2023 Jan 1;18(1):36-46. doi: 10.2215/CJN.0000000000000022. PMID: 36719158Free PMC Article
Reiterová J, Tesař V
Int J Mol Sci 2022 Mar 19;23(6) doi: 10.3390/ijms23063317. PMID: 35328738Free 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, Perrone RD, Koch G, Ouyang J, McQuade RD, Blais JD, Czerwiec FS, Sergeyeva O; REPRISE Trial Investigators
N Engl J Med 2017 Nov 16;377(20):1930-1942. Epub 2017 Nov 4 doi: 10.1056/NEJMoa1710030. PMID: 29105594
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

Hwang YH, Conklin J, Chan W, Roslin NM, Liu J, He N, Wang K, Sundsbak JL, Heyer CM, Haider M, Paterson AD, Harris PC, Pei Y
J Am Soc Nephrol 2016 Jun;27(6):1861-8. Epub 2015 Oct 9 doi: 10.1681/ASN.2015060648. PMID: 26453610Free PMC Article
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
Irazabal MV, Rangel LJ, Bergstralh EJ, Osborn SL, Harmon AJ, Sundsbak JL, Bae KT, Chapman AB, Grantham JJ, Mrug M, Hogan MC, El-Zoghby ZM, Harris PC, Erickson BJ, King BF, Torres VE; CRISP Investigators
J Am Soc Nephrol 2015 Jan;26(1):160-72. Epub 2014 Jun 5 doi: 10.1681/ASN.2013101138. PMID: 24904092Free PMC Article
Cornec-Le Gall E, Audrézet MP, Chen JM, Hourmant M, Morin MP, Perrichot R, Charasse C, Whebe B, Renaudineau E, Jousset P, Guillodo MP, Grall-Jezequel A, Saliou P, Férec C, Le Meur Y
J Am Soc Nephrol 2013 May;24(6):1006-13. Epub 2013 Feb 21 doi: 10.1681/ASN.2012070650. PMID: 23431072Free PMC Article
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

Clinical prediction guides

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
Torres VE, Chapman AB, Devuyst O, Gansevoort RT, Perrone RD, Dandurand A, Ouyang J, Czerwiec FS, Blais JD; TEMPO 4:4 Trial Investigators
Nephrol Dial Transplant 2018 Mar 1;33(3):477-489. doi: 10.1093/ndt/gfx043. PMID: 28379536Free PMC Article
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
Irazabal MV, Rangel LJ, Bergstralh EJ, Osborn SL, Harmon AJ, Sundsbak JL, Bae KT, Chapman AB, Grantham JJ, Mrug M, Hogan MC, El-Zoghby ZM, Harris PC, Erickson BJ, King BF, Torres VE; CRISP Investigators
J Am Soc Nephrol 2015 Jan;26(1):160-72. Epub 2014 Jun 5 doi: 10.1681/ASN.2013101138. PMID: 24904092Free PMC Article
Cornec-Le Gall E, Audrézet MP, Chen JM, Hourmant M, Morin MP, Perrichot R, Charasse C, Whebe B, Renaudineau E, Jousset P, Guillodo MP, Grall-Jezequel A, Saliou P, Férec C, Le Meur Y
J Am Soc Nephrol 2013 May;24(6):1006-13. Epub 2013 Feb 21 doi: 10.1681/ASN.2012070650. PMID: 23431072Free PMC Article

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
Pettit S, Chalmers D
J Pediatr Urol 2021 Dec;17(6):763-768. Epub 2021 Sep 11 doi: 10.1016/j.jpurol.2021.09.003. PMID: 34538561
Leombroni M, Buca D, Celentano C, Liberati M, Bascietto F, Gustapane S, Marrone L, Manzoli L, Rizzo G, D'Antonio F
Ultrasound Obstet Gynecol 2017 Aug;50(2):167-174. Epub 2017 Jul 9 doi: 10.1002/uog.17244. PMID: 27553859
Temmerman F, Missiaen L, Bammens B, Laleman W, Cassiman D, Verslype C, van Pelt J, Nevens F
Aliment Pharmacol Ther 2011 Oct;34(7):702-13. Epub 2011 Jul 26 doi: 10.1111/j.1365-2036.2011.04783.x. PMID: 21790682
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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