全身抽搐-低钙血症-低镁血症

Muscle spasm-hypocalcaemia-hypomagnesemia

报告一例CaSR激活突变致甲状旁腺功能减退症(简称甲旁减)病例。本例患者自幼反复发作肌肉抽搐,多次查血钙及血甲状旁腺素(parathyroid hormone,PTH)明显降低,伴低镁血症。病程中逐渐出现颅内钙化、白内障、肾结石等异位钙化表现。结合患者临床特点及基因检测,最后确诊为常染色体显性遗传性低钙血症1型。本文对肾小管CaSR调节尿钙、尿镁排泄的作用进行总结,并对CaSR突变甲旁减患者临床特点进行文献复习。

This article reported a case of hypoparathyroidism caused by activating mutation of CaSR gene.The patient developed recurrent muscle spasm after birth.Biochemical analysis showed hypocalcaemia,low serum parathyroid hormone(PTH)level,and hypomagnesemia.In the course of his disease,intracranial calcification,cataracts,and renal stones gradually appeared.He was diagnosed as autosomal dominant hypocalcaemia type 1 after gene analysis.The function of CaSR on urinary calcium and magnesium excretion and clinical characteristics of CaSR mutation induced hypoparathyroidism were reviewed.