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Cystic Kidney Disease

MedGen UID:
352142
Concept ID:
C1691228
Disease or Syndrome
Synonyms: Cystic Kidney Diseases; Cystic Renal Disease; Cystic Renal Diseases; Disease, Cystic Kidney; Disease, Cystic Renal; Diseases, Cystic Kidney; Diseases, Cystic Renal; Kidney Disease, Cystic; Kidney Diseases, Cystic; Renal Disease, Cystic; Renal Diseases, Cystic

Definition

A congenital or acquired kidney disorder characterized by the presence of renal cysts. [from NCI]

Professional guidelines

PubMed

Arora V, Anand K, Chander Verma I
Indian J Pediatr 2020 Sep;87(9):706-715. Epub 2020 Feb 13 doi: 10.1007/s12098-020-03198-y. PMID: 32056192
Gimpel C, Bergmann C, Bockenhauer D, Breysem L, Cadnapaphornchai MA, Cetiner M, Dudley J, Emma F, Konrad M, Harris T, Harris PC, König J, Liebau MC, Marlais M, Mekahli D, Metcalfe AM, Oh J, Perrone RD, Sinha MD, Titieni A, Torra R, Weber S, Winyard PJD, Schaefer F
Nat Rev Nephrol 2019 Nov;15(11):713-726. doi: 10.1038/s41581-019-0155-2. PMID: 31118499Free PMC Article
Eckardt KU, Alper SL, Antignac C, Bleyer AJ, Chauveau D, Dahan K, Deltas C, Hosking A, Kmoch S, Rampoldi L, Wiesener M, Wolf MT, Devuyst O; Kidney Disease: Improving Global Outcomes
Kidney Int 2015 Oct;88(4):676-83. Epub 2015 Mar 4 doi: 10.1038/ki.2015.28. PMID: 25738250

Recent clinical studies

Etiology

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
Senum SR, Li YSM, Benson KA, Joli G, Olinger E, Lavu S, Madsen CD, Gregory AV, Neatu R, Kline TL, Audrézet MP, Outeda P, Nau CB, Meijer E, Ali H, Steinman TI, Mrug M, Phelan PJ, Watnick TJ, Peters DJM, Ong ACM, Conlon PJ, Perrone RD, Cornec-Le Gall E, Hogan MC, Torres VE, Sayer JA; Genomics England Research Consortium, the HALT PKD, CRISP, DIPAK, ADPKD Modifier, and TAME PKD studies, Harris PC
Am J Hum Genet 2022 Jan 6;109(1):136-156. Epub 2021 Dec 9 doi: 10.1016/j.ajhg.2021.11.016. PMID: 34890546Free PMC Article
Devlin LA, Sayer JA
Curr Opin Genet Dev 2019 Jun;56:49-60. Epub 2019 Aug 13 doi: 10.1016/j.gde.2019.07.005. PMID: 31419725
Gimpel C, Bergmann C, Bockenhauer D, Breysem L, Cadnapaphornchai MA, Cetiner M, Dudley J, Emma F, Konrad M, Harris T, Harris PC, König J, Liebau MC, Marlais M, Mekahli D, Metcalfe AM, Oh J, Perrone RD, Sinha MD, Titieni A, Torra R, Weber S, Winyard PJD, Schaefer F
Nat Rev Nephrol 2019 Nov;15(11):713-726. doi: 10.1038/s41581-019-0155-2. PMID: 31118499Free PMC Article
Eckardt KU, Alper SL, Antignac C, Bleyer AJ, Chauveau D, Dahan K, Deltas C, Hosking A, Kmoch S, Rampoldi L, Wiesener M, Wolf MT, Devuyst O; Kidney Disease: Improving Global Outcomes
Kidney Int 2015 Oct;88(4):676-83. Epub 2015 Mar 4 doi: 10.1038/ki.2015.28. PMID: 25738250

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
Senum SR, Li YSM, Benson KA, Joli G, Olinger E, Lavu S, Madsen CD, Gregory AV, Neatu R, Kline TL, Audrézet MP, Outeda P, Nau CB, Meijer E, Ali H, Steinman TI, Mrug M, Phelan PJ, Watnick TJ, Peters DJM, Ong ACM, Conlon PJ, Perrone RD, Cornec-Le Gall E, Hogan MC, Torres VE, Sayer JA; Genomics England Research Consortium, the HALT PKD, CRISP, DIPAK, ADPKD Modifier, and TAME PKD studies, Harris PC
Am J Hum Genet 2022 Jan 6;109(1):136-156. Epub 2021 Dec 9 doi: 10.1016/j.ajhg.2021.11.016. PMID: 34890546Free PMC Article
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
Gimpel C, Bergmann C, Bockenhauer D, Breysem L, Cadnapaphornchai MA, Cetiner M, Dudley J, Emma F, Konrad M, Harris T, Harris PC, König J, Liebau MC, Marlais M, Mekahli D, Metcalfe AM, Oh J, Perrone RD, Sinha MD, Titieni A, Torra R, Weber S, Winyard PJD, Schaefer F
Nat Rev Nephrol 2019 Nov;15(11):713-726. doi: 10.1038/s41581-019-0155-2. PMID: 31118499Free PMC Article
Eckardt KU, Alper SL, Antignac C, Bleyer AJ, Chauveau D, Dahan K, Deltas C, Hosking A, Kmoch S, Rampoldi L, Wiesener M, Wolf MT, Devuyst O; Kidney Disease: Improving Global Outcomes
Kidney Int 2015 Oct;88(4):676-83. Epub 2015 Mar 4 doi: 10.1038/ki.2015.28. PMID: 25738250

Therapy

Teuwafeu DG, Dongmo A, Fomekong SD, Amougou M, Mahamat M, Nono A, Kaze FF, Ashuntantang G
Pan Afr Med J 2023;45:175. Epub 2023 Aug 21 doi: 10.11604/pamj.2023.45.175.31773. PMID: 37954434Free PMC Article
Shirazian S, Starakiewicz P, Latcha S
Adv Chronic Kidney Dis 2021 Sep;28(5):502-508.e1. doi: 10.1053/j.ackd.2021.09.006. PMID: 35190116
Ghata J, Cowley BD Jr
Compr Physiol 2017 Jun 18;7(3):945-975. doi: 10.1002/cphy.c160018. PMID: 28640449
Czarnecki PG, Steinman TI
Minerva Urol Nefrol 2013 Mar;65(1):61-8. PMID: 23538311
Levine E
Radiol Clin North Am 1996 Sep;34(5):947-64. PMID: 8784391

Prognosis

Hanna C, Iliuta IA, Besse W, Mekahli D, Chebib FT
Semin Nephrol 2023 Jul;43(4):151434. Epub 2023 Nov 22 doi: 10.1016/j.semnephrol.2023.151434. PMID: 37996359
De Groof J, Dachy A, Breysem L, Mekahli D
Arch Pediatr 2023 May;30(4):240-246. Epub 2023 Apr 14 doi: 10.1016/j.arcped.2023.02.005. PMID: 37062654
Heidenreich LS, Bendel-Stenzel EM, Harris PC, Hanna C
Neoreviews 2022 Mar 1;23(3):e175-e188. doi: 10.1542/neo.23-3-e175. PMID: 35229136
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
Eckardt KU, Alper SL, Antignac C, Bleyer AJ, Chauveau D, Dahan K, Deltas C, Hosking A, Kmoch S, Rampoldi L, Wiesener M, Wolf MT, Devuyst O; Kidney Disease: Improving Global Outcomes
Kidney Int 2015 Oct;88(4):676-83. Epub 2015 Mar 4 doi: 10.1038/ki.2015.28. PMID: 25738250

Clinical prediction guides

Diefenhardt P, Braumann M, Schömig T, Trinsch B, Sierra Gonzalez C, Becker-Gotot J, Völker LA, Ester L, Mandel AM, Hawiger D, Abdallah AT, Schermer B, Göbel H, Brinkkötter P, Kurts C, Benzing T, Brähler S
J Am Soc Nephrol 2023 Aug 1;34(8):1366-1380. Epub 2023 Jun 26 doi: 10.1681/ASN.0000000000000159. PMID: 37367205Free 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
Song CJ, Zimmerman KA, Henke SJ, Yoder BK
Results Probl Cell Differ 2017;60:323-344. doi: 10.1007/978-3-319-51436-9_12. PMID: 28409351Free PMC Article
Cramer MT, Guay-Woodford LM
Adv Chronic Kidney Dis 2015 Jul;22(4):297-305. doi: 10.1053/j.ackd.2015.04.001. PMID: 26088074
Eckardt KU, Alper SL, Antignac C, Bleyer AJ, Chauveau D, Dahan K, Deltas C, Hosking A, Kmoch S, Rampoldi L, Wiesener M, Wolf MT, Devuyst O; Kidney Disease: Improving Global Outcomes
Kidney Int 2015 Oct;88(4):676-83. Epub 2015 Mar 4 doi: 10.1038/ki.2015.28. PMID: 25738250

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