A case of hypomagnesemia with secondary hypocalcemia caused by Trpm6 gene mutation
Articles > Article · 2008
Authors: Caner TURAN, Ertan Kayserili, Hasan Agin, Murat Hizarcioglu, Pamir Gulez, Afig BERDELİ
The Indian Journal of Pediatrics, Journal Indexed in SCI Expanded, International, WoS, 2008, vol 75, pp 632-634
DOI: 10.1007/s12098-008-0121-7
Summary
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.