The presence of a positive family history of kidney disease with an autosomal dominant inheritance pattern, together with compatible clinical and histological manifestations and with the absence of evidence for other renal disease, is a cause for suspicion of autosomal dominant tubulointerstitial kidney disease (ADTKD). It can also be considered in cases without a positive family history but with typical findings, since it can also be due to de novo pathogenic variants. Clinically, it is characterized by a progressive decline in kidney function, resulting in terminal kidney failure between ages 20 and 80, with inactive urinary sediment, mild or absent proteinuria, and normal or decreased kidney size on echography with occasional renal cysts.
There are five types of ADTKD depending on the affected gene: MUC1, UMOD, REN, HNF1B, SEC61A1. ADTKD-HNF1B can be associated with extrarenal manifestations, such as MODY5, genital abnormalities, and pancreatic atrophy.
Through ClientSite you can filter variants and download your reports