PDF(Pubmed)
Abstract：
Magnesium is essential for the functioning and release of parathyroid hormone. Therefore, its deficiency can present as functional hypoparathyroidism. This case report describes a rare inherited disorder called congenital hypomagnesaemia with secondary hypocalcaemia due to TRPM6 gene mutation. This disease clinically and biochemically mimics hypoparathyroidism. However, unlike hypoparathyroidism, it can be treated only by long-term oral magnesium supplements. The patient presented to us with recurrent hypocalcaemic convulsions. The laboratory picture in each admission was similar to that of hypoparathyroidism. However, the hypocalcaemia persisted, and it was noticed to be associated with persistent hypomagnesaemia. A defect in the tubular magnesium reabsorption was postulated and a genetic analysis of the patient was done, which revealed a TRPM6 mutation causing hypomagnesaemia by excessive renal excretion of magnesium. The child responded well to oral magnesium supplements and is currently developmentally appropriate for her age and thriving well.
摘要：
镁对甲状旁腺激素的功能和释放至关重要。因此,其缺乏可表现为功能性甲状旁腺功能减退。该病例报告描述了一种罕见的遗传性疾病，称为先天性低镁血症，并由于TRPM6基因突变而继发的低钙血症。这种疾病在临床和生物化学上模拟甲状旁腺功能减退症。然而,与甲状旁腺功能减退症不同，它只能通过长期口服镁补充剂来治疗。患者反复出现低钙血症性惊厥。每次入院的实验室检查与甲状旁腺功能减退症相似。然而,低钙血症持续存在，并注意到它与持续性低镁血症有关。假定了管状镁重吸收的缺陷，并对患者进行了遗传分析，这揭示了一个TRPM6突变引起的低镁血症的过度肾排泄镁。这个孩子对口服镁补充剂反应良好，目前在发育上适合她的年龄，并且茁壮成长。
