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