1. Kidney Int. 2020 Dec;98(6):1397-1400. doi: 10.1016/j.kint.2020.08.013.

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

Schaeffer C(1), Olinger E(2).

Author information:
(1)Molecular Genetics of Renal Disorders, Division of Genetics and Cell Biology, 
IRCCS San Raffaele Scientific Institute, Milan, Italy.
(2)Translational and Clinical Research Institute, Faculty of Medical Sciences, 
Newcastle University, Newcastle upon Tyne, UK. Electronic address: 
eric.olinger@ncl.ac.uk.

Comment on
    Kidney Int. 2020 Dec;98(6):1589-1604. doi: 10.1016/j.kint.2020.06.041.

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.

Copyright © 2020 International Society of Nephrology. Published by Elsevier Inc. 
All rights reserved.

DOI: 10.1016/j.kint.2020.08.013
PMID: 33276865 [Indexed for MEDLINE]