| H00541 | |
| H number | H00541 |
| Name | Autosomal dominant tubulointerstitial kidney disease |
| 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 | Urinary system disease |
| Network | - |
| Gene | (ADTKD1) UMOD [HSA:7369] [KO:K18274] (ADTKD2) MUC1 [HSA:4582] [KO:K06568] (ADTKD3) HNF1B [HSA:6928] [KO:K08034] (ADTKD4) REN [HSA:5972] [KO:K01380] (ADTKD5) SEC61A1 [HSA:29927] [KO:K10956] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: GB82 ICD-10: N15 E79.0 Q61.5 MeSH: C537696 OMIM: 162000 174000 137920 613092 617056 |
| Reference | PMID:25738250 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 PMID:12471200 (UMOD) 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 PMID:23396133 (MUC1) 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 PMID:12675839 (HNF1B) 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 PMID:19664745 (REN) AUTHORS Zivna M, Hulkova H, Matignon M, Hodanova K, Vylet'al P, Kalbacova M, Baresova V, Sikora J, Blazkova H, Zivny J, Ivanek R, Stranecky V, Sovova J, Claes K, Lerut E, Fryns JP, Hart PS, Hart TC, Adams JN, Pawtowski A, Clemessy M, Gasc JM, Gubler MC, Antignac C, Elleder M, Kapp K, Grimbert P, Bleyer AJ, Kmoch S TITLE Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure. JOURNAL Am J Hum Genet 85:204-13 (2009) DOI:10.1016/j.ajhg.2009.07.010 PMID:27392076 (SEC61A1) 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 |