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

• Autores: Loza Munarriz, Reyner, Arias Caceres, Fernando, Neyra Chagua, Victor
• Formato: artículo
• Fecha de Publicación: 2024
• Institución: Universidad Peruana Cayetano Heredia
• Repositorio: Revistas - Universidad Peruana Cayetano Heredia
• Lenguaje: español
• OAI Identifier: oai:revistas.upch.edu.pe:article/5335
• Enlace del recurso: https://revistas.upch.edu.pe/index.php/RMH/article/view/5335
• Nivel de acceso: acceso abierto
• Materia: Claudinas; deficiencia de magnesio; nefrocalcinosis; trasplante de riñón; hipocalcemia; Claudin; magnesium deficiency; nephrocalcinosis; kidney transplantation; hypocalcemia

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.