Familial hypomagnesemia with hypercalciuria and nefrocalcinosis due to a mutation in the CLDN16 gen (Claudina 16). A case report

Loza Munarriz R.; Arias Cáceres F.; Neyra Chagua V. · Revista Medica Herediana (2024) · DOI: 10.20453/rmh.v35i3.5335

Resumen

We report the case of a girl with a history of seizures associated with severe and persistent hypermagnesemia, hypocalcemia, hypercalciuria, metabolic acidosis, nephrocalcinosis, and progressive renal function deterioration leading to chronic renal failure stage 5 (ESCRD). A familial history of chronic renal disease, renal lithiasis, and paternal consanguinity prompted a genetic study identifying a pathogenic mutation in homozygosis c.446 G>A (p.R149Q) located in the exon 3 of the gen CLDN16 confirming the diagnosis of familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) with no severe ocular defects. The post-renal transplant is presented, showing good survival of the graft. © Revista Médica Herediana.

Instituciones: Universidad Peruana Cayetano Heredia