因瞬时受体电位阳离子通道亚家族M成员6（ ）基因的新型变异导致的低镁血症伴继发性甲状旁腺功能减退和低钙血症
Hypomagnesemia with Secondary Hypoparathyroidism and Hypocalcemia due to Novel Variants in the Transient Receptor Potential Cation Channel Subfamily M Member 6 ( ) Gene.
作者信息
Jain Geetanjali, Das Gourab, Malhotra Rakhi, Ramchandran Sateesh, Phani Nagaraja M, Appaswamy Giridharan, Sridharan Upasana, Dwivedi Aradhana
机构信息
Military Hospital, Nasirabad, India.
Army Hospital (Research and Referral), New Delhi, India.
出版信息
J Pediatr Genet. 2021 Aug 31;13(1):35-42. doi: 10.1055/s-0041-1733949. eCollection 2024 Mar.
Abstract
HOMG1 (hypomagnesemia 1, intestinal) or hypomagnesemia with secondary hypocalcemia is a rare autosomal recessive disorder of magnesium metabolism, characterized by impaired magnesium absorption. This disorder may mimic other conditions presenting with neonatal seizures. Here, we report an infant diagnosed to have hypomagnesemia with secondary hypocalcemia due to novel variants in gene.
摘要
HOMG1（低镁血症1型，肠道型）或伴有继发性低钙血症的低镁血症是一种罕见的常染色体隐性镁代谢紊乱疾病，其特征为镁吸收受损。这种疾病可能会与其他表现为新生儿惊厥的病症相似。在此，我们报告一名因基因中的新型变异而被诊断为伴有继发性低钙血症的低镁血症的婴儿。
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