KEGG   DISEASE: 常染色体優性遺伝性尿細管間質性腎疾患
エントリ  
H00541                                                             

名称    
常染色体優性遺伝性尿細管間質性腎疾患
  下位グループ
家族性若年性高尿酸血症性腎症 (HNFJ) [DS:H02011]
髄質性嚢胞腎 [DS:H02012]
概要    
常染色体優性遺伝性尿細管間質性腎疾患 (ADTKD) は、腎尿細管および間質性の異常を特徴とする主に単一臓器型疾患群を含む広範な用語であり、徐々に進行して腎機能損失を引き起こし、透析および腎移植が必要となる。 典型的な ADTKD の臨床症状は腎臓に限定されているようであるが、HNF1B の突然変異によって引き起こされる非定型のタイプは様々な腎外症状を生じる。
カテゴリ  
腎疾患
階層分類  
ヒト疾患 [BR:jp08402]
 泌尿器系疾患
  腎疾患
   H00541  常染色体優性遺伝性尿細管間質性腎疾患
ICD-11 による疾患分類 [BR:jp08403]
 16 Diseases of the genitourinary system
  Diseases of the urinary system
   Cystic or dysplastic kidney disease
    GB82  Autosomal dominant tubulointerstitial disease
     H00541  常染色体優性遺伝性尿細管間質性腎疾患
パスウェイ 
hsa04614  レニン・アンジオテンシン系
病因遺伝子 
UMOD [HSA:7369] [KO:K18274]
MUC1 [HSA:4582] [KO:K06568]
REN [HSA:5972] [KO:K01380]
SEC61A1 [HSA:29927] [KO:K10956]
HNF1B [HSA:6928] [KO:K08034]
リンク   
ICD-11: GB82
ICD-10: N15 E79.0 Q61.5
MeSH: C537696
OMIM: 162000 603860 174000 613092 617056 137920 125853
文献    
  著者
Eckardt KU, Alper SL, Antignac C, Bleyer AJ, Chauveau D, Dahan K, Deltas C, Hosking A, Kmoch S, Rampoldi L, Wiesener M, Wolf MT, Devuyst O
  タイトル
Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report.
  雑誌
Kidney Int 88:676-83 (2015)
DOI:10.1038/ki.2015.28
文献    
  著者
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
  タイトル
Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia.
  雑誌
Am J Hum Genet 99:174-87 (2016)
DOI:10.1016/j.ajhg.2016.05.028
文献    
  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
文献    
  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    
  著者
Stiburkova B, Majewski J, Hodanova K, Ondrova L, Jerabkova M, Zikanova M, Vylet'al P, Sebesta I, Marinaki A, Simmonds A, Matthijs G, Fryns JP, Torres R, Puig JG, Ott J, Kmoch S
  タイトル
Familial juvenile hyperuricaemic nephropathy (FJHN): linkage analysis in 15 families, physical and transcriptional characterisation of the FJHN critical region on chromosome 16p11.2 and the analysis of seven candidate genes.
  雑誌
Eur J Hum Genet 11:145-54 (2003)
DOI:10.1038/sj.ejhg.5200937
文献    
  著者
Bingham C, Ellard S, van't Hoff WG, Simmonds HA, Marinaki AM, Badman MK, Winocour PH, Stride A, Lockwood CR, Nicholls AJ, Owen KR, Spyer G, Pearson ER, Hattersley AT
  タイトル
Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1beta gene mutation.
  雑誌
Kidney Int 63:1645-51 (2003)
DOI:10.1046/j.1523-1755.2003.00903.x
LinkDB    

» English version

DBGET integrated database retrieval system