1. Hipomagnesemia familiar con hipercalciuria y nefrocalcinosis por mutación del gen CLDN16 (Claudina 16). Reporte de caso.
- Author
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Munarriz, Reyner Loza, Cáceres, Fernando Arias, and Chagua, Víctor Neyra
- Subjects
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KIDNEY transplantation , *HYPERCALCIUREA , *MAGNESIUM , *GRAFT survival , *CHRONIC kidney failure , *SURGICAL complications , *HYPOCALCEMIA , *HYPOMAGNESEMIA , *KIDNEY calcification , *GENETIC mutation , *HYPERMAGNESEMIA , *GENETIC testing - 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]
- Published
- 2024
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