A case of hypomagnesemia with secondary hypocalcemia caused by Trpm6 gene mutation
Makaleler > Tam Makale · 2008
Yazarlar: Caner TURAN, Ertan Kayserili, Hasan Agin, Murat Hizarcioglu, Pamir Gulez, Afig BERDELİ
The Indian Journal of Pediatrics, SCI Expanded İndekslerine Giren Dergi, Uluslararası, Wos, 2008, cilt 75, ss 632-634
DOI: 10.1007/s12098-008-0121-7
Özet
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.