KEGG DISEASE: Medullary cystic kidney disease

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 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:

OMIM:

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

PMID:23396133 (MCKD1)

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

PMID:12471200 (MCKD2)

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

LinkDB

» Japanese version

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