Clinical and genetic spectra of kidney disease caused by REN mutations.

Abstract

Heterozygous mutations in REN cause autosomal dominant tubulointerstitial kidney disease (ADTKD), an increasingly recognized entity characterized by interstitial fibrosis and tubular damage. In contrast to more common forms of ADTKD, the rarity of ADTKD-REN has precluded a thorough disease characterization. Živná and colleagues take advantage of an international patient cohort to expand the genetic and clinical spectra of ADTKD-REN and to establish genotype-phenotype correlations with important implications for patient care.