Autosomal Dominant Tubulointerstitial Kidney Disease: An Emerging Cause of Genetic CKD.

ABSTRACT: Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a rare inherited disorder characterized by progressive loss of kidney function, nonsignificant urinalysis and tubulointerstitial fibrosis. ADTKD progresses to end stage renal disease (ESRD) in adulthood. The classification of ADTKD is an evolving concept and the agreement is now that, due to the overlap in terms of phenotype characteristics, this should be based on the involved gene. The umbrella term ADTKD therefore includes different conditions as follows: ADTKD-UMOD, ADKTD-MUC1, ADTKD-REN, and ADTK-HNF1B, with ADTKD-SEC61A1 and ADTKD-DNAJB11 as a further rare and atypical diagnosis recently described. The employment of next-generation sequencing (NGS) as a diagnostic tool in patients with

SUBMITTER: Econimo L 

PROVIDER: S-EPMC9751576 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature