Yamamoto T, Kabata H, Yagi R, Takashima M, Itokawa Y
Magnesium. 1985;4(2-3):153-64.
Primary hypomagnesemia with secondary hypocalcemia (PHSH) is a rare type of hypocalcemic disorder which occurs in early infancy and is clinically characterized by recurrent tetany and/or convulsion. In this paper, a male infant with PHSH who had frequent seizures at the age of 9 days is described. Besides PHSH, several illnesses in infancy are manifested by hypomagnesemia and hypocalcemia, i.e. transient neonatal hypomagnesemic hypocalcemia, congenital renal or hepatic insufficiencies, magnesium-losing nephropathy, combined impairments of intestinal absorption and renal reabsorption of magnesium. PHSH is to be differentiated from these illnesses by the demonstration of a combination of the following findings; hypocalcemia refractory to calcium but responsive to magnesium, continuous requirement for magnesium supplementation to maintain normocalcemia, lack of hypermagnesiuria and/or impaired intestinal absorption of magnesium. Twenty cases from the literature were found to exhibit these characteristics. The clinical, biochemical, and endocrine features of PHSH are summarized on the basis of a review of the data of these and the present case. No associated illness was known in the afflicted infants or mothers. Both male and female infants were afflicted at a male to female ratio of 15:6. Some siblings were afflicted but none of the parents or relatives. The onset of tetany and/or convulsion was between the 9th day and 4th month, which is later than that of other neonatal hypocalcemic illnesses. Hypocalcemia was more pronounced than other infantile hypocalcemic illnesses. The role of the parathyroid hormone in the pathogenesis of hypocalcemia has been studied in several studies but no unifying concepts have yet been established.
原发性低镁血症伴继发性低钙血症（PHSH）是一种罕见的低钙血症性疾病，发生于婴儿早期，临床特征为反复手足搐搦和/或惊厥。本文描述了一名9日龄时频繁发作癫痫的PHSH男婴。除PHSH外，婴儿期的几种疾病也表现为低镁血症和低钙血症，即短暂性新生儿低镁血症性低钙血症、先天性肾或肝功能不全、失镁性肾病、肠道镁吸收和肾镁重吸收联合受损。PHSH需通过以下表现的组合来与这些疾病相鉴别：对钙难治但对镁有反应的低钙血症、持续需要补充镁以维持正常血钙水平、无高镁尿症和/或肠道镁吸收受损。文献中发现有20例具有这些特征。基于对这些病例和本病例数据的回顾，总结了PHSH的临床、生化和内分泌特征。患病婴儿或其母亲均无相关疾病。男女婴儿均有患病，男女比例为15:6。一些兄弟姐妹患病，但父母或亲属均未患病。手足搐搦和/或惊厥发作于第9天至第4个月之间，比其他新生儿低钙血症性疾病发作时间晚。低钙血症比其他婴儿期低钙血症性疾病更明显。甲状旁腺激素在低钙血症发病机制中的作用已在多项研究中进行了探讨，但尚未形成统一的概念。
