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原发性婴儿低镁血症:两例报告及文献复习

Primary infantile hypomagnesaemia; report of two cases and review of literature.

作者信息

Abdulrazzaq Y M, Smigura F C, Wettrell G

机构信息

United Arab Emirates University, Al Ain.

出版信息

Eur J Pediatr. 1989 Feb;148(5):459-61. doi: 10.1007/BF00595914.

Abstract

We describe two male infants suffering from primary hypomagnesaemia, diagnosed at 3 months and 2.5 months of age. They both presented with generalised convulsions, with case 2 exhibiting hypocalcaemia which did not respond to calcium and case 1 having normocalcaemia at first but hypocalcaemia 3 days after admission. Both improved dramatically after initiation of magnesium therapy. A carrier-mediated transport defect is the most likely cause of this disease. It is of the utmost importance that a correct and prompt diagnosis be made as therapy is simple and effective. Failure in diagnosing this condition could prove fatal as demonstrated in the family history of case 2.

摘要

我们描述了两名患有原发性低镁血症的男婴,分别在3个月和2.5个月大时被诊断出。他们均出现全身性惊厥,病例2表现为低钙血症,补钙治疗无效,病例1最初血钙正常,但入院3天后出现低钙血症。镁治疗开始后,两人病情均显著改善。载体介导的转运缺陷很可能是该病的病因。由于治疗简单有效,因此及时做出正确诊断至关重要。正如病例2的家族病史所示,未能诊断出这种疾病可能会导致致命后果。

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