KEGG   DISEASE: Autosomal dominant tubulointerstitial kidney disease (ADTKD)Help
Entry
H00541                      Disease                                

Name
Autosomal dominant tubulointerstitial kidney disease (ADTKD)
  Subgroup
Familial juvenile hyperuricemic nephropathy (HNFJ) [DS:H02011]
Medullary cystic kidney disease [DS:H02012]
Description
Autosomal-dominant tubulointerstitial kidney disease (ADTKD) is a broad term that encompasses a group of largely monosystemic disorders characterized by renal tubular and interstitial abnormalities, leading to slow progressive loss of kidney function requiring dialysis and kidney transplantation. The clinical manifestations of typical ADTKD appear to be confined to the kidney, whereas atypical type caused by mutations in HNF1B results in variable extrarenal manifestations.
Category
Kidney disease
Brite
Human diseases [BR:br08402]
 Urinary system diseases
  Kidney diseases
   H00541  Uromodulin-associated kidney diseases
Human diseases in ICD-10 classification [BR:br08403]
 17. Congenital malformations, deformations and chromosomal abnormalities (Q00-Q99)
  Q60-Q64  Congenital malformations of the urinary system
   Q61  Cystic kidney disease
    H00541  Glomerulocystic kidney disease
BRITE hierarchy
Pathway
Renin-angiotensin system
Gene
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]
Other DBs
Reference
PMID:25738250 (description)
  Authors
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
  Title
Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report.
  Journal
Kidney Int 88:676-83 (2015)
DOI:10.1038/ki.2015.28
Reference
PMID:27392076 (description, gene)
  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
PMID:12471200 (gene)
  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
Reference
PMID:23396133 (gene)
  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:12634862 (gene)
  Authors
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
  Title
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.
  Journal
Eur J Hum Genet 11:145-54 (2003)
DOI:10.1038/sj.ejhg.5200937
Reference
PMID:12675839 (gene)
  Authors
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
  Title
Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1beta gene mutation.
  Journal
Kidney Int 63:1645-51 (2003)
DOI:10.1046/j.1523-1755.2003.00903.x

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