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Autosomal dominant tubulointerstitial kidney disease: more than just HNF1β

  • Published:2021-05-22 Issue: Volume: Page:
  • ISSN:0931-041X
  • Container-title:Pediatric Nephrology
  • language:en
  • Short-container-title:Pediatr Nephrol

Author:

Bleyer Anthony J.ORCID,Wolf Matthias T.,Kidd Kendrah O.,Zivna Martina,Kmoch Stanislav

Funder

Ministerstvo Zdravotnictví Ceské Republiky

Ministry of Education of the Czech Republic

Univerzita Karlova v Praze

National Center for Medical Genomics

National Institute of Diabetes and Digestive and Kidney Diseases

Children’s Clinical Research Advisory Committee

U.S. Department of Defense

National Institutes of Health

CKD Biomarkers Consortium

Instituto Carlos Slim de la Salud

Black-Brogan Foundation

Soli Deo Gloria

Publisher

Springer Science and Business Media LLC

Subject

Nephrology,Pediatrics, Perinatology and Child Health

Reference72 articles.

1. Devuyst O, Olinger E, Weber S, Eckardt KU, Kmoch S, Rampoldi L, Bleyer AJ (2019) Autosomal dominant tubulointerstitial kidney disease. Nat Rev Dis Primers 5:60. https://doi.org/10.1038/s41572-019-0109-9

2. Bleyer AJ, Kidd K, Zivna M, Kmoch S (2017) Autosomal Dominant tubulointerstitial kidney disease. Adv Chronic Kidney Dis 24:86–93. https://doi.org/10.1053/j.ackd.2016.11.012

3. Hart TC, Gorry MC, Hart PS, Woodard AS, Shihabi Z, Sandhu J, Shirts B, Xu L, Zhu H, Barmada MM, Bleyer AJ (2002) Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy. J Med Genet 39:882–892. https://doi.org/10.1136/jmg.39.12.882

4. Kirby A, Gnirke A, Jaffe DB, Baresova V, Pochet N, Blumenstiel B, Ye C, Aird D, Stevens C, Robinson JT, Cabili MN, Gat-Viks I, Kelliher E, Daza R, DeFelice M, Hulkova H, Sovova J, Vylet'al P, Antignac C, Guttman M, Handsaker RE, Perrin D, Steelman S, Sigurdsson S, Scheinman SJ, Sougnez C, Cibulskis K, Parkin M, Green T, Rossin E, Zody MC, Xavier RJ, Pollak MR, Alper SL, Lindblad-Toh K, Gabriel S, Hart PS, Regev A, Nusbaum C, Kmoch S, Bleyer AJ, Lander ES, Daly MJ (2013) Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing. Nat Genet 45:299–303. https://doi.org/10.1038/ng.2543

5. Heidet L, Decramer S, Pawtowski A, Moriniere V, Bandin F, Knebelmann B, Lebre AS, Faguer S, Guigonis V, Antignac C, Salomon R (2010) Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases. Clin J Am Soc Nephrol 5:1079–1090. https://doi.org/10.2215/CJN.06810909

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