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Hipomagnesemia familiar con hipercalciuria y nefrocalcinosis por mutación del gen CLDN16 (Claudina 16). Reporte de caso.

Authors :
Munarriz, Reyner Loza
Cáceres, Fernando Arias
Chagua, Víctor Neyra
Source :
Revista Medica Herediana. jul-sep2024, Vol. 35 Issue 3, p157-161. 5p.
Publication Year :
2024

Abstract

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. [ABSTRACT FROM AUTHOR]

Details

Language :
Spanish
ISSN :
1018130X
Volume :
35
Issue :
3
Database :
Academic Search Index
Journal :
Revista Medica Herediana
Publication Type :
Academic Journal
Accession number :
180300357
Full Text :
https://doi.org/10.20453/rmh.v35i3.5335