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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  
  • Familial cystic renal disease

Professional guidelines

PubMed

Burgmaier K, Broekaert IJ, Liebau MC
Adv Kidney Dis Health 2023 Sep;30(5):468-476. doi: 10.1053/j.akdh.2023.01.005. PMID: 38097335
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

Recent clinical studies

Etiology

Burgmaier K, Broekaert IJ, Liebau MC
Adv Kidney Dis Health 2023 Sep;30(5):468-476. doi: 10.1053/j.akdh.2023.01.005. PMID: 38097335
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
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

Burgmaier K, Broekaert IJ, Liebau MC
Adv Kidney Dis Health 2023 Sep;30(5):468-476. doi: 10.1053/j.akdh.2023.01.005. PMID: 38097335
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
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

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
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
Snell GI, Davis AK, Menahem S, Kotecha S, Whitford HM, Levvey BJ, Paraskeva M, Webb A, Westall GW, Walker RG
Transpl Immunol 2016 Nov;39:30-33. Epub 2016 Sep 20 doi: 10.1016/j.trim.2016.09.002. PMID: 27663090
Pfohman M, Criddle LM
J Neurosci Nurs 2001 Feb;33(1):39-41. doi: 10.1097/01376517-200102000-00005. PMID: 11233360
Giselson N, Heinegard D, Holmberg CG, Lindberg LG, Lindstedt E, Lindstedt G, Schersten B
Am J Med 1970 Feb;48(2):174-84. doi: 10.1016/0002-9343(70)90113-0. PMID: 5416260

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
Burgmaier K, Broekaert IJ, Liebau MC
Adv Kidney Dis Health 2023 Sep;30(5):468-476. doi: 10.1053/j.akdh.2023.01.005. PMID: 38097335
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

GBD 2021 Risk Factors Collaborators
Lancet 2024 May 18;403(10440):2162-2203. doi: 10.1016/S0140-6736(24)00933-4. PMID: 38762324Free 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
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

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
Sautenet B, Cho Y, Gutman T, Rangan G, Ong A, Chapman AB, Ahn C, Coolican H, Tze-Wah Kao J, Fowler K, Gansevoort RT, Geneste C, Perrone RD, Harris T, Torres VE, Pei Y, Craig JC, Tong A; SONG-PKD Initiative
Am J Kidney Dis 2020 Aug;76(2):213-223. Epub 2020 Mar 11 doi: 10.1053/j.ajkd.2019.12.003. PMID: 32171640
Cai H, Qing X, Niringiyumukiza JD, Zhan X, Mo D, Zhou Y, Shang X
Genet Med 2019 Apr;21(4):826-836. Epub 2018 Sep 14 doi: 10.1038/s41436-018-0262-7. PMID: 30214069Free 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

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