Familial hypomagnesemia with hypercalciuria and nefrocalcinosis due to a mutation in the CLDN16 gen (Claudina 16). A case report
We report the case of a girl with a history of seizures associated with persistent severe hypomagnesemia, hypocalcemia, hypercalciuria, accompanied by alterations in renal function, metabolic acidosis and Nephrocalcinosis with progression to stage 5 chronic kidney disease (CKD) with a fami...
| Autores: | , , |
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| Formato: | artículo |
| Estado: | Versión publicada |
| Fecha de publicación: | 2024 |
| País: | Perú |
| Recursos: | Universidad Peruana Cayetano Heredia |
| Repositorio: | Revistas - Universidad Peruana Cayetano Heredia |
| Idioma: | español |
| OAI Identifier: | oai:revistas.upch.edu.pe:article/5335 |
| Acesso em linha: | https://revistas.upch.edu.pe/index.php/RMH/article/view/5335 |
| Access Level: | acceso abierto |
| Palavra-chave: | Claudinas deficiencia de magnesio nefrocalcinosis trasplante de riñón hipocalcemia Claudin magnesium deficiency nephrocalcinosis kidney transplantation hypocalcemia |
| Resumo: | We report the case of a girl with a history of seizures associated with persistent severe hypomagnesemia, hypocalcemia, hypercalciuria, accompanied by alterations in renal function, metabolic acidosis and Nephrocalcinosis with progression to stage 5 chronic kidney disease (CKD) with a family history of chronic kidney disease, kidney stones and consanguinity of the parents, which is why the genetic study was carried out, resulting in a pathogenic mutation in homozygosity c.446 G>A (p.R149Q) located in exon 3 of the CLDN16 gene, which allows etiological diagnostic confirmation of a case of Hypomagnesemia Familial with Hypercalciuria and Nephrocalcinosis (HFHNC), without severe ocular defects. In addition , the post-transplant evolution with good graft survival is presented. |
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