Work

Familial Hypomagnesemia With Hypercalciuria and Nephrocalcinosis in a 7‐Year‐Old Girl: A Case Report

Year: 2025

Type: article

Abstract: Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare autosomal recessive renal tubular disorder, caused by mutations in the Claudin-16 or Claudin-19 genes. It is characterized by renal wasting of calcium and magnesium, bilateral nephrocalcinosis, and progression to kidney failure eventually. We had a pediatric patient with hypomagnesemia, hypercalciuria, and nephrocalcinosis with the presence of a novel missense variant of c.175C>T (p.Arg59Cys) in the CLDN16 gene on whole exome sequencing (WES). This variant falls in the category of variants of uncertain significance as per the American College of Medical Genetics and Genomics guideline. MutationTaster, Sorting Intolerant From Tolerant, and Combined Annotation-Dependent Depletion support its deleterious effect, putting it into the pathogenic category. The variant found in our case is compatible with the patient phenotype. WES is a powerful tool to confirm clinical, biochemical, and radiological diagnoses in cases of rare genetic disorders, like FHHNC.

Source: Clinical Case Reports

DOI: 10.1002/ccr3.71612

Authors: Rummana Tazia Tonny, Farhana Akter Mumu, Shanjida Sharmim, Syed Saimul Huque

Institution: Bangladesh Medical University

Language: English

Topic: Magnesium in Health and Disease

Subfield: Nutrition and Dietetics

Field: Nursing

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $1,820