Diagnostic Dilemma in an Adolescent Girl with an Eating Disorder, Intellectual Disability, and Hypomagnesemia.
Nephron
; 145(6): 717-720, 2021.
Article
em En
| MEDLINE
| ID: mdl-34515155
ABSTRACT
Neurological disorders, including seizures, migraine, depression, and intellectual disability, are frequently associated with hypomagnesemia. Specifically, magnesium (Mg2+) channel transient receptor potential melastatin (TRPM) 6 and TRPM7 are essential for brain function and development. Both channels are also localized in renal and intestinal epithelia and are crucial for Mg2+(re)absorption. Cyclin M2 (CNNM2) is located on the basolateral side of the distal convoluted tubule. In addition, it plays a role in the maintenance of plasma Mg2+ levels along with TRPM6, which is present at the apical level. The CNNM2 gene is crucial for renal magnesium handling, brain development, and neurological functioning. Here, we identified a novel mutation in the CNNM2 gene causing a cognitive delay in a girl with hypomagnesemia. We suggest testing for CNNM2 mutation in patients with neurological impairment and hypomagnesemia.
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Base de dados:
MEDLINE
Assunto principal:
Erros Inatos do Transporte Tubular Renal
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Transtornos da Alimentação e da Ingestão de Alimentos
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Deficiência Intelectual
Idioma:
En
Ano de publicação:
2021
Tipo de documento:
Article