Diagnostic Dilemma in an Adolescent Girl with an Eating Disorder, Intellectual Disability, and Hypomagnesemia
| Autor: | Abdulaziz A Bamhraz, Allison Rodrigues, Stephanie Deveau, Gijs A C Franken, Rahul Chanchlani, Jeroen H. F. de Baaij, Rosheen Grady |
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| Rok vydání: | 2021 |
| Předmět: |
Renal Tubular Transport
Inborn Errors Adolescent business.industry Bioinformatics medicine.disease Hypomagnesemia Feeding and Eating Disorders medicine.anatomical_structure Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11] Migraine TRPM7 TRPM TRPM6 Intellectual Disability Intellectual disability medicine Humans Female Distal convoluted tubule business Cation Transport Proteins Depression (differential diagnoses) |
| Zdroj: | Nephron, 145, 6, pp. 717-720 Nephron, 145, 717-720 |
| ISSN: | 1660-8151 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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