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. Multiple names have been suggested for this group of disorders, including ‘familial juvenile hyperuricemic nephropathy (FJHN),’ ‘medullary cystic kidney disease (MCKD) type 2’, ‘uromodulin-associated kidney disease (UAKD),’ UMOD-related diseases, and ‘MCKD type 1’. However, the variety of these names, and the idea that cysts are not pathognomonic, generates confusion. Kidney Disease: Improving Global Outcomes (KDIGO) suggests the adoption of new terminology for these diseases using a single name ‘autosomal dominant tubulointerstitial kidney disease’ (ADTKD) adjoining a gene-based subclassification and diagnostic criteria. These recommendations are anticipated to bring about homogeneity in the characterization of this monogenic group of diseases. This condition is inherited in an autosomal dominant manner. To date, many different gene mutations that cause ADTKD have been detected, such as uromodulin (UMOD), renin (REN), mucin-1 (MUC1), hepatocyte nuclear factor 1β (HNF1B), and SEC. 61A1 mutations. These genes encode different proteins, which are imperative for normal renal function. The clinical scenario is varied and non-specific, and it is dependent on the type of gene mutation. The clinical manifestation of diseases associated with mutations in MUC1, UMOD, and REN appears to be limited to the kidney; however, HNF1B mutations cause variable extrarenal manifestations. 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.