Shalev H, Phillip M, Galil A, Carmi R, Landau D
Soroka Medical Center, Beer Sheva, Israel.
Arch Dis Child. 1998 Feb;78(2):127-30. doi: 10.1136/adc.78.2.127.
The clinical presentation and long term outcome (mean follow up eight years, range 0.25 to 21) of 15 patients with autosomal recessive primary familial hypomagnesaemia is described. The most common (67%) presenting events were generalised hypocalcaemic-hypomagnesaemic seizures at a mean (SD) age of 4.9 (2.5) weeks. Thirteen infants, treated soon after diagnosis with high dose enteral magnesium developed normally. Their serum calcium returned to normal concentrations but serum magnesium could not be maintained at normal concentrations (0.53 (0.12 SD) mmol/l; normal > 0.62). Delay in establishing a diagnosis led to a convulsive disorder with permanent neurological impairment in two infants. Reported complications of prolonged hypomagnesaemia such as renal stones, hypertension, arrhythmias, sudden death, or dyslipidaemia were not observed.
本文描述了15例常染色体隐性原发性家族性低镁血症患者的临床表现及长期预后（平均随访8年，范围0.25至21年）。最常见（67%）的首发症状是全身性低钙血症-低镁血症惊厥，平均（标准差）发病年龄为4.9（2.5）周。13例婴儿在诊断后不久接受高剂量肠内镁治疗，发育正常。他们的血清钙恢复到正常浓度，但血清镁无法维持在正常浓度（0.53（0.12标准差）mmol/L；正常>0.62）。诊断延迟导致2例婴儿出现惊厥性疾病并伴有永久性神经损伤。未观察到长期低镁血症的报告并发症，如肾结石、高血压、心律失常、猝死或血脂异常。
