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

BACKGROUND

Autosomal dominant tubulointerstitial kidney disease (ADTKD) caused by -causing pathogenic variants (ADTKD-) is a rare group of heritable diseases. ADTKD- often manifests in childhood with symptoms such as mild hypotension, chronic kidney disease, hyperkalemia, anemia, and acidosis. The diagnosis of ADTKD- remains challenging.

CASE PRESENTATION

We describe a 14-year-old boy with acute kidney injury who was found to have a heterozygous missense mutant c.1085G>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.

CONCLUSION

This case identified a new variant in the gene, expanding the known spectrum of 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.