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原发性低镁血症。病例报告及文献综述。

Primary hypomagnesaemia. A case report and literature review.

作者信息

Dudin K I, Teebi A S

出版信息

Eur J Pediatr. 1987 May;146(3):303-5. doi: 10.1007/BF00716481.

Abstract

A case of primary hypomagnesaemia with secondary hypocalcaemia in an Arab girl of consanguineous parents is reported. She presented at the age of 3 weeks with generalised convulsions, was treated with magnesium supplements and followed up for 5 years during which she showed normal physical and psychomotor development. In view of the striking male preponderance among the reported cases and the presence of parental consanguinity in a few, the inheritance is discussed and genetic heterogeneity is suggested.

摘要

报道了一名阿拉伯裔近亲结婚父母所生女孩患原发性低镁血症伴继发性低钙血症的病例。她在3周龄时出现全身性惊厥,接受了镁补充剂治疗,并随访了5年,在此期间她的身体和精神运动发育正常。鉴于报道病例中男性明显居多,且少数存在父母近亲结婚情况,对其遗传方式进行了讨论并提示存在遗传异质性。

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