Entry |
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Name |
Medullary cystic kidney disease |
Supergrp |
Autosomal dominant tubulointerstitial kidney disease [DS: H00541] |
Description |
Medullary cystic kidney disease (MCKD) is an autosomal dominant tubulointerstitial nephropathy that causes renal salt wasting and end-stage kidney disease (ESKD). Two types of MCKD are recognized (MCKD1 and MCKD2) according to the responsible genes and the onset of ESKD. MUC1 gene for MCKD1 and UMOD gene for MCKD2 have been identified as causative genes. The timing of the onset of ESKD is during the fifth to sixth decades of life in MCKD1 and about the third decade in MCKD2. Recently, new terminology using the term autosomal dominant tubulointerstitial kidney disease (ADTKD) has been proposed, and MCKD is encompassed by it.
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Category |
Congenital malformation
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Brite |
Human diseases [BR:br08402]
Congenital malformations
Congenital malformations of the urinary system
H02012 Medullary cystic kidney disease
Human diseases in ICD-11 classification [BR:br08403]
16 Diseases of the genitourinary system
Diseases of the urinary system
Cystic or dysplastic kidney disease
GB82 Autosomal dominant tubulointerstitial disease
H02012 Medullary cystic kidney disease
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Gene |
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Other DBs |
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Reference |
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Authors |
Suzuki T, Iyoda M, Yamaguchi Y, Shibata T |
Title |
A case of sporadic medullary cystic kidney disease type 1 (MCKD1) with kidney enlargement complicated by IgA nephropathy. |
Journal |
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Reference |
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Authors |
Wolf MT, van Vlem B, Hennies HC, Zalewski I, Karle SM, Puetz M, Panther F, Otto E, Fuchshuber A, Lameire N, Loeys B, Hildebrandt F |
Title |
Telomeric refinement of the MCKD1 locus on chromosome 1q21. |
Journal |
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Reference |
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Authors |
Bolar NA, Golzio C, Zivna M, Hayot G, Van Hemelrijk C, Schepers D, Vandeweyer G, Hoischen A, Huyghe JR, Raes A, Matthys E, Sys E, Azou M, Gubler MC, Praet M, Van Camp G, McFadden K, Pediaditakis I, Pristoupilova A, Hodanova K, Vyletal P, Hartmannova H, Stranecky V, Hulkova H, Baresova V, Jedlickova I, Sovova J, Hnizda A, Kidd K, Bleyer AJ, Spong RS, Vande Walle J, Mortier G, Brunner H, Van Laer L, Kmoch S, Katsanis N, Loeys BL |
Title |
Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia. |
Journal |
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Reference |
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Authors |
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 |
Title |
Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing. |
Journal |
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Reference |
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Authors |
Hart TC, Gorry MC, Hart PS, Woodard AS, Shihabi Z, Sandhu J, Shirts B, Xu L, Zhu H, Barmada MM, Bleyer AJ |
Title |
Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy. |
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