GB82
category
Autosomal dominant tubulointerstitial disease
Definition
Nonglomerular, autosomal dominant kidney diseases characterised by progressive tubulointerstitial fibrosis and progression to end-stage renal disease. Currently there are 4 known genetic defects - in uromodulin, mucin-1, renin and hepatocyte nuclear factor 1-beta. The last is associated with Maturity-Onset Diabetes of the Young (MODY) and thus is classified as MODY-5
Also indexed as
ADTKD - [autosomal dominant tubulointerstitial disease] NOSADTKD-MUC1 [autosomal dominant tubulointerstitial kidney disease MUC1]ATDKD-UMOD - [Autosomal dominant tubulointerstitial disease-uromodulin]Autosomal dominant tubulointerstitial diseaseAutosomal dominant tubulointerstitial disease Type 2Autosomal dominant tubulointerstitial disease, Type 1MCKD - [medullary cystic kidney disease] type 1MCKD - [medullary cystic kidney disease] type 2MCKD [medullary cystic kidney disease]Mucin-1 Kidney diseaseUromodulin associated kidney diseaseUromodulin kidney diseaseautosomal dominant tubulointerstitial kidney disease NOSautosomal recessive medullary cystic diseasemedullary cystic diseasemedullary cystic kidneymedullary cystic kidney diseasemedullary cystic kidney disease, Type 1medullary cystic kidney disease, Type 2nephronopthisis