GB82
Autosomal dominant tubulointerstitial disease
Doença túbulo-intersticialautossômica dominante
CategoryDefinition
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
Index Terms
Autosomal dominant tubulointerstitial diseasemedullary cystic kidney diseaseADTKD - [autosomal dominant tubulointerstitial disease] NOSautosomal dominant tubulointerstitial kidney disease NOSMCKD [medullary cystic kidney disease]medullary cystic diseasemedullary cystic kidneyAutosomal dominant tubulointerstitial disease, Type 1autosomal recessive medullary cystic diseasenephronopthisismedullary cystic kidney disease, Type 1Mucin-1 Kidney diseaseADTKD-MUC1 [autosomal dominant tubulointerstitial kidney disease MUC1]MCKD - [medullary cystic kidney disease] type 1Autosomal dominant tubulointerstitial disease Type 2medullary cystic kidney disease, Type 2ATDKD-UMOD - [Autosomal dominant tubulointerstitial disease-uromodulin]MCKD - [medullary cystic kidney disease] type 2Uromodulin associated kidney diseaseUromodulin kidney disease