Autosomal Dominant Tubulointerstitial Kidney Disease

Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a group of inherited kidney disorders. It is usually characterized by progressive renal insufficiency, tubulointerstitial nephropathy, and bland urinary sediment. This condition is inherited by autosomal dominant manner. To date, many different gene mutations that cause ADTKD had been detected: uromodulin (UMOD), renin (REN), mucin-1 (MUC1), hepatocyte nuclear factor 1β (HNF1B), and recently SEC. 61A1 mutation was identified as a novel cause of this disease. These genes encode different proteins, which are imperative for normal renal function. The clinical scenario is varied, non-specific, and it is dependent on the type of gene mutation. It is difficult to diagnose this condition because it is a rare and recently identified disorder that is not well known to most primary health care providers and nephrologists.