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Polycystic kidney disease 8(PKD8)

MedGen UID:
1854762
Concept ID:
C5935640
Disease or Syndrome
Synonyms: PKD8; POLYCYSTIC KIDNEY DISEASE 8
 
Monarch Initiative: MONDO:0971178
OMIM®: 620903

Definition

Polycystic kidney disease-8 (PKD8) is an autosomal dominant disorder characterized by enlarged kidneys, arterial hypertension, and kidney failure (Claus et al., 2023). [from OMIM]

Professional guidelines

PubMed

Torra R
F1000Res 2019;8 Epub 2019 Jan 29 doi: 10.12688/f1000research.17109.1. PMID: 30755792Free PMC Article
Chen HL, Wu SH, Hsu SH, Liou BY, Chen HL, Chang MH
J Biomed Sci 2018 Oct 26;25(1):75. doi: 10.1186/s12929-018-0475-8. PMID: 30367658Free PMC Article
Wüthrich RP, Mei C
Expert Opin Pharmacother 2014 Jun;15(8):1085-95. Epub 2014 Mar 28 doi: 10.1517/14656566.2014.903923. PMID: 24673552

Recent clinical studies

Etiology

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
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
Tahvanainen E, Tahvanainen P, Kääriäinen H, Höckerstedt K
Ann Med 2005;37(8):546-55. doi: 10.1080/07853890500389181. PMID: 16338757
Menster M, Mahan J, Koff S
Pediatr Nephrol 1994 Feb;8(1):113-5. doi: 10.1007/BF00868287. PMID: 8142209

Diagnosis

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
Diedrich B, Dengjel J
Cell Tissue Res 2017 Jul;369(1):41-51. Epub 2017 Apr 21 doi: 10.1007/s00441-017-2617-9. PMID: 28432464
Chebib FT, Sussman CR, Wang X, Harris PC, Torres VE
Nat Rev Nephrol 2015 Aug;11(8):451-64. Epub 2015 Apr 14 doi: 10.1038/nrneph.2015.39. PMID: 25870007Free PMC Article
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
Thomsen HS, Levine E, Meilstrup JW, Van Slyke MA, Edgar KA, Barth JC, Hartman DS
Eur Radiol 1997;7(8):1267-75. doi: 10.1007/s003300050288. PMID: 9377514

Therapy

Cooper TE, Khalid R, Chan S, Craig JC, Hawley CM, Howell M, Johnson DW, Jaure A, Teixeira-Pinto A, Wong G
Cochrane Database Syst Rev 2023 Oct 23;10(10):CD013631. doi: 10.1002/14651858.CD013631.pub2. PMID: 37870148Free 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
Torra R, Furlano M
Nephrol Dial Transplant 2019 Aug 1;34(8):1272-1279. doi: 10.1093/ndt/gfz131. PMID: 31190059
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

Roumie CL, Hung AM, Russell GB, Basile J, Kreider KE, Nord J, Ramsey TM, Rastogi A, Sweeney ME, Tamariz L, Kostis WJ, Williams JS, Zias A, Cushman WC; SPRINT Research Group
Hypertension 2020 Feb;75(2):331-338. Epub 2019 Dec 23 doi: 10.1161/HYPERTENSIONAHA.118.12572. PMID: 31865790Free PMC Article
Diedrich B, Dengjel J
Cell Tissue Res 2017 Jul;369(1):41-51. Epub 2017 Apr 21 doi: 10.1007/s00441-017-2617-9. PMID: 28432464
Nowak M, Huras H, Wiecheć M, Jach R, Radoń-Pokracka M, Górecka J
Ginekol Pol 2016;87(8):605-8. doi: 10.5603/GP.2016.0053. PMID: 27629138
Wüthrich RP, Mei C
Expert Opin Pharmacother 2014 Jun;15(8):1085-95. Epub 2014 Mar 28 doi: 10.1517/14656566.2014.903923. PMID: 24673552
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
Torra R
F1000Res 2019;8 Epub 2019 Jan 29 doi: 10.12688/f1000research.17109.1. PMID: 30755792Free PMC Article
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
Rowe I, Boletta A
Nephrol Dial Transplant 2014 Aug;29(8):1480-6. Epub 2014 Jan 23 doi: 10.1093/ndt/gft521. PMID: 24459136
Salomon R, Saunier S, Niaudet P
Pediatr Nephrol 2009 Dec;24(12):2333-44. Epub 2008 Jul 8 doi: 10.1007/s00467-008-0840-z. PMID: 18607645Free PMC Article

Recent systematic reviews

Cooper TE, Khalid R, Chan S, Craig JC, Hawley CM, Howell M, Johnson DW, Jaure A, Teixeira-Pinto A, Wong G
Cochrane Database Syst Rev 2023 Oct 23;10(10):CD013631. doi: 10.1002/14651858.CD013631.pub2. PMID: 37870148Free PMC Article
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
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
Bolignano D, Palmer SC, Ruospo M, Zoccali C, Craig JC, Strippoli GF
Cochrane Database Syst Rev 2015 Jul 14;2015(7):CD010294. doi: 10.1002/14651858.CD010294.pub2. PMID: 26171904Free PMC Article
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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