KEGG   DISEASE: Medullary cystic kidney disease
Entry
H02012                      Disease                                

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.
Category
Congenital malformation
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
Gene
(MCKD1) MUC1 [HSA:4582] [KO:K06568]
(MCKD2) UMOD [HSA:7369] [KO:K18274]
Other DBs
ICD-11: GB82
ICD-10: Q61.5
OMIM: 174000 603860
Reference
  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
Pathol Int 65:379-82 (2015)
DOI:10.1111/pin.12292
Reference
  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
Kidney Int 66:580-5 (2004)
DOI:10.1111/j.1523-1755.2004.00799.x
Reference
  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
Am J Hum Genet 99:174-87 (2016)
DOI:10.1016/j.ajhg.2016.05.028
Reference
  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
Nat Genet 45:299-303 (2013)
DOI:10.1038/ng.2543
Reference
  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.
  Journal
J Med Genet 39:882-92 (2002)
DOI:10.1136/jmg.39.12.882
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