A case of hypomagnesemia with secondary hypocalcemia caused by Trpm6 gene mutation


Apa H., Kayserili E., Agin H., Hizarcioglu M., Gulez P., BERDELİ A.

INDIAN JOURNAL OF PEDIATRICS, cilt.75, ss.632-634, 2008 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 75 Konu: 6
  • Basım Tarihi: 2008
  • Doi Numarası: 10.1007/s12098-008-0121-7
  • Dergi Adı: INDIAN JOURNAL OF PEDIATRICS
  • Sayfa Sayıları: ss.632-634

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.