Whole exome sequencing reveals a pathogenic homozygous CLDN16 mutation in a 17-year-old patient with familial hypomagnesemia with hypercalciuria and nephrocalcinosis: A case report

This case underscores the importance of WES in the diagnosis of rare tubular disorders, especially when the clinical presentations are nonspecific. This finding highlights that CLDN16-related FHHNC can occur without ocular involvement, and this information may aid in differential diagnosis. Early and consistent magnesium supplementation appears to mitigate renal deterioration, emphasizing the need for prompt intervention. Additionally, this case reinforces the value of genetic counseling for families affected by autosomal recessive conditions.