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Familial cystic renal disease

MedGen UID:
1842297
Concept ID:
C5680285
Disease or Syndrome
Synonyms: familial cystic renal disease; Genetic cystic renal disease; hereditary cystic kidney disease; Hereditary cystic renal disease
 
Monarch Initiative: MONDO:0019741
Orphanet: ORPHA93587

Definition

An instance of cystic kidney disease that is caused by an inherited modification of the individual's genome. [from MONDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFamilial cystic renal disease

Professional guidelines

PubMed

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
Gray RE, Harris GT
Am Fam Physician 2019 Feb 1;99(3):179-184. PMID: 30702258
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

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
Rinkel GJ, Ruigrok YM
Int J Stroke 2022 Jan;17(1):30-36. Epub 2021 Jun 17 doi: 10.1177/17474930211024584. PMID: 34042530Free 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
Bachmann-Gagescu R, Dempsey JC, Phelps IG, O'Roak BJ, Knutzen DM, Rue TC, Ishak GE, Isabella CR, Gorden N, Adkins J, Boyle EA, de Lacy N, O'Day D, Alswaid A, Ramadevi A R, Lingappa L, Lourenço C, Martorell L, Garcia-Cazorla À, Ozyürek H, Haliloğlu G, Tuysuz B, Topçu M; University of Washington Center for Mendelian Genomics, Chance P, Parisi MA, Glass IA, Shendure J, Doherty D
J Med Genet 2015 Aug;52(8):514-22. Epub 2015 Jun 19 doi: 10.1136/jmedgenet-2015-103087. PMID: 26092869Free 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

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
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
Bergmann C, Guay-Woodford LM, Harris PC, Horie S, Peters DJM, Torres VE
Nat Rev Dis Primers 2018 Dec 6;4(1):50. doi: 10.1038/s41572-018-0047-y. PMID: 30523303Free 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

Calvaruso L, Yau K, Akbari P, Nasri F, Khowaja S, Wang B, Haghighi A, Khalili K, Pei Y
Sci Rep 2023 Dec 14;13(1):22257. doi: 10.1038/s41598-023-48638-9. PMID: 38097698Free PMC Article
de Chickera S, Alam A
Adv Kidney Dis Health 2023 Sep;30(5):461-467. doi: 10.1053/j.akdh.2023.06.005. PMID: 38097334
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
Yheskel M, Patel V
Curr Opin Nephrol Hypertens 2017 Jul;26(4):282-289. doi: 10.1097/MNH.0000000000000333. PMID: 28399020Free PMC Article

Prognosis

GBD 2021 Diseases and Injuries Collaborators
Lancet 2024 May 18;403(10440):2133-2161. Epub 2024 Apr 17 doi: 10.1016/S0140-6736(24)00757-8. PMID: 38642570Free 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
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
Gray RE, Harris GT
Am Fam Physician 2019 Feb 1;99(3):179-184. PMID: 30702258
Bergmann C, Guay-Woodford LM, Harris PC, Horie S, Peters DJM, Torres VE
Nat Rev Dis Primers 2018 Dec 6;4(1):50. doi: 10.1038/s41572-018-0047-y. PMID: 30523303Free 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
Olinger E, Hofmann P, Kidd K, Dufour I, Belge H, Schaeffer C, Kipp A, Bonny O, Deltas C, Demoulin N, Fehr T, Fuster DG, Gale DP, Goffin E, Hodaňová K, Huynh-Do U, Kistler A, Morelle J, Papagregoriou G, Pirson Y, Sandford R, Sayer JA, Torra R, Venzin C, Venzin R, Vogt B, Živná M, Greka A, Dahan K, Rampoldi L, Kmoch S, Bleyer AJ Sr, Devuyst O
Kidney Int 2020 Sep;98(3):717-731. Epub 2020 May 22 doi: 10.1016/j.kint.2020.04.038. PMID: 32450155
Gray RE, Harris GT
Am Fam Physician 2019 Feb 1;99(3):179-184. PMID: 30702258
Bachmann-Gagescu R, Dempsey JC, Phelps IG, O'Roak BJ, Knutzen DM, Rue TC, Ishak GE, Isabella CR, Gorden N, Adkins J, Boyle EA, de Lacy N, O'Day D, Alswaid A, Ramadevi A R, Lingappa L, Lourenço C, Martorell L, Garcia-Cazorla À, Ozyürek H, Haliloğlu G, Tuysuz B, Topçu M; University of Washington Center for Mendelian Genomics, Chance P, Parisi MA, Glass IA, Shendure J, Doherty D
J Med Genet 2015 Aug;52(8):514-22. Epub 2015 Jun 19 doi: 10.1136/jmedgenet-2015-103087. PMID: 26092869Free 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 systematic reviews

Jay MA, Sanders-Ellis D, Blackburn R, Deighton J, Gilbert R
Front Public Health 2023;11:1122769. Epub 2023 Jun 9 doi: 10.3389/fpubh.2023.1122769. PMID: 37361156Free PMC Article
Ge S, Yang M, Cui Y, Wu J, Xu L, Dong J, Liao L
Front Endocrinol (Lausanne) 2022;13:911526. Epub 2022 Jun 30 doi: 10.3389/fendo.2022.911526. PMID: 35846334Free PMC Article
Zhou Z, Xu Y, Delcourt C, Shan J, Li Q, Xu J, Hackett ML
Cerebrovasc Dis 2017;44(1-2):75-82. Epub 2017 May 13 doi: 10.1159/000476073. PMID: 28502970
Schrier RW, Brosnahan G, Cadnapaphornchai MA, Chonchol M, Friend K, Gitomer B, Rossetti S
J Am Soc Nephrol 2014 Nov;25(11):2399-418. Epub 2014 Jun 12 doi: 10.1681/ASN.2013111184. PMID: 24925719Free PMC Article
Gieteling EW, Rinkel GJ
J Neurol 2003 Apr;250(4):418-23. doi: 10.1007/s00415-003-0997-0. PMID: 12700905

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