Diagnostic Dilemma in an Adolescent Girl with an Eating Disorder, Intellectual Disability, and Hypomagnesemia.

Autor:	Bamhraz AA; Division of Pediatric Nephrology, Department of Pediatrics, McMaster Children's Hospital, McMaster University, Hamilton, Ontario, Canada, dr.aziz81@hotmail.com., Franken GAC; Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., de Baaij JHF; Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Rodrigues A; Division of Adolescent Medicine, Department of Pediatrics, McMaster Children's Hospital, McMaster University, Hamilton, Ontario, Canada., Grady R; Division of Adolescent Medicine, Department of Pediatrics, McMaster Children's Hospital, McMaster University, Hamilton, Ontario, Canada., Deveau S; Division of Adolescent Medicine, Department of Pediatrics, McMaster Children's Hospital, McMaster University, Hamilton, Ontario, Canada., Chanchlani R; Division of Pediatric Nephrology, Department of Pediatrics, McMaster Children's Hospital, McMaster University, Hamilton, Ontario, Canada.
Jazyk:	angličtina
Zdroj:	Nephron [Nephron] 2021; Vol. 145 (6), pp. 717-720. Date of Electronic Publication: 2021 Aug 19.
DOI:	10.1159/000518173
Abstrakt:	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. (© 2021 S. Karger AG, Basel.)
Databáze:	MEDLINE
Externí odkaz:	Zobrazit plný text záznamu