Autosomal Dominant Tubulointerstitial Kidney Disease: A Review

Autosomal dominant tubulointerstitial kidney disease (ADTKD) is an increasingly recognized rare condition with 3 primary characteristics: autosomal dominant inheritance, bland urinary sediment (absence of hematuria and proteinuria), and chronic kidney disease (CKD) leading to kidney failure (need for kidney replacement therapy or kidney transplantation) between 20 and 80 years of age, with a mean age of kidney failure of approximately 45 years. Pathogenic variants in UMOD, MUC1, REN, and APOA4 have been identified as causative in ADTKD families. Prior to 2000, ADTKD was only diagnosed clinically and had been described in fewer than 50 families. However, with the advent of genetic testing and a better understanding of this condition, ADTKD is being increasingly recognized and is the third most common monogenic cause of kidney failure. The purpose of this review is to provide an understanding of the clinical characteristics of ADTKD and its subtypes with a practical approach to diagnosis and management for clinical nephrologists.