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A case report of primary hypomagnesemia with secondary hypocalcemia caused by TRPM6 gene variants

A 26-day-old male infant presented with recurrent convulsions from 18 days of life. Laboratory investigations revealed severe hypomagnesemia (0.07 mmol/L) and hypocalcemia (1.65 mmol/L). Whole-exome sequencing was performed and identified compound heterozygous pathogenic variants in the TRPM6 gene,...

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Principais autores: ZHOU Mei-Yu, TANG Xing-Jia, LIN Shao-Xin, CHEN Chong-Feng
Format: Artigo
Sprog:Chinês
Udgivet: Hunan Xiangya Medical Periodical Press Co., Ltd. 2026-01-01
Serier:中国当代儿科杂志
Fag:
primary hypomagnesemia with secondary hypocalcemia
trpm6 gene
novel variant
treatment
child
Online adgang:https://www.zgddek.com/CN/10.7499/j.issn.1008-8830.2507066
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