KEGG DISEASE: 髄質性嚢胞腎

DISEASE: 髄質性嚢胞腎

エントリ

H02012

名称

髄質性嚢胞腎

上位グループ

常染色体優性遺伝性尿細管間質性腎疾患 [DS:H00541]

概要

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.

カテゴリ

先天奇形

階層分類

ICD-11 による疾患分類 [BR:jp08403]
16 泌尿生殖器系の疾患
  尿路系の疾患
   嚢胞腎または異形成腎
    GB82  常染色体優性尿細管間質性疾患
     H02012  髄質性嚢胞腎

病因遺伝子

(MCKD1) MUC1 [HSA:4582] [KO:K06568]
(MCKD2) UMOD [HSA:7369] [KO:K18274]

リンク

ICD-11:

GB82

OMIM:

174000 162000

文献

PMID:25818408

著者

Suzuki T, Iyoda M, Yamaguchi Y, Shibata T

タイトル

A case of sporadic medullary cystic kidney disease type 1 (MCKD1) with kidney enlargement complicated by IgA nephropathy.

雑誌

Pathol Int 65:379-82 (2015)
DOI:10.1111/pin.12292

文献

PMID:15253709

著者

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

タイトル

Telomeric refinement of the MCKD1 locus on chromosome 1q21.

雑誌

Kidney Int 66:580-5 (2004)
DOI:10.1111/j.1523-1755.2004.00799.x

文献

PMID:23396133 (MCKD1)

著者

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

タイトル

Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing.

雑誌

Nat Genet 45:299-303 (2013)
DOI:10.1038/ng.2543

文献

PMID:12471200 (MCKD2)

著者

Hart TC, Gorry MC, Hart PS, Woodard AS, Shihabi Z, Sandhu J, Shirts B, Xu L, Zhu H, Barmada MM, Bleyer AJ

タイトル

Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy.

雑誌

J Med Genet 39:882-92 (2002)
DOI:10.1136/jmg.39.12.882

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