AUTHOR=Ma Jingyu , Hu Zhijuan , Liu Qiong , Li Jing , Li Jiejie 

TITLE=Case Report: A potentially pathogenic new variant of the REN gene found in a family experiencing autosomal dominant tubulointerstitial kidney disease

JOURNAL=Frontiers in Pediatrics

VOLUME=12

YEAR=2024

URL=https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2024.1415064

DOI=10.3389/fped.2024.1415064

ISSN=2296-2360

ABSTRACT=<sec><title>Background</title><p>Autosomal dominant tubulointerstitial kidney disease (ADTKD) caused by <italic>REN</italic>-causing pathogenic variants (ADTKD-<italic>REN</italic>) is a rare group of heritable diseases. ADTKD-<italic>REN</italic> often manifests in childhood with symptoms such as mild hypotension, chronic kidney disease, hyperkalemia, anemia, and acidosis. The diagnosis of ADTKD-<italic>REN</italic> remains challenging.</p></sec><sec><title>Case presentation</title><p>We describe a 14-year-old boy with acute kidney injury who was found to have a heterozygous missense mutant c.1085G&gt;A;p.Cys362Tyr (not previously reported in the literature) through Sanger sequencing genetic testing. This confirmed a genetic disorder with a probable autosomal dominant inheritance pattern. Notably, despite a family history of autosomal dominant polycystic kidney disease, he was diagnosed with ADTKD.</p></sec><sec><title>Conclusion</title><p>This case identified a new variant in the <italic>REN</italic> gene, expanding the known spectrum of <italic>REN</italic> pathogenic variants. In addition, the importance of family history and genetic testing in confirming the diagnosis is emphasized. Genetic sequencing should be pursued when there are indications for testing.</p></sec>