一例由Trpm6基因突变引起的低镁血症伴继发性低钙血症病例。
A case of hypomagnesemia with secondary hypocalcemia caused by Trpm6 gene mutation.
作者信息
Apa Hursit, Kayserili Ertan, Agin Hasan, Hizarcioglu Murat, Gulez Pamir, Berdeli Afig
机构信息
Department of Pediatric Emergency, Izmir, Turkey.
出版信息
Indian J Pediatr. 2008 Jun;75(6):632-4. doi: 10.1007/s12098-008-0121-7. Epub 2008 Aug 31.
An offspring of marriage between two first cousins presented with atonic seizures developed on the 20(th) day of life. The physical examination of the case was normal. In laboratory results, Ca(+2) level was 5.7 mg/dl, Mg(+2): 0.4 mg/dl (1,3-2,1), PTH: 28.4 pg/ml (12-92), and P-: 4.5 mg/dl. The case was diagnosed as hypomagnesemia with secondary hypocalcemia (HSH) and TRPM6 gene mutation analysis revealed a homozygote mutation of E157X.
一对表亲联姻的后代在出生后第20天出现了无张力性癫痫发作。该病例的体格检查正常。实验室检查结果显示，钙离子水平为5.7毫克/分升，镁离子为0.4毫克/分升（1.3 - 2.1），甲状旁腺激素为28.4皮克/毫升（12 - 92），磷为4.5毫克/分升。该病例被诊断为继发性低钙血症伴低镁血症（HSH），TRPM6基因突变分析显示存在E157X纯合突变。
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