A case of hypomagnesemia with secondary hypocalcemia caused by Trpm6 gene mutation
Küçük Resim Yok
Tarih
2008
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
An offspring of marriage between two first cousins presented with atonic seizures developed on the 20th 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. © 2008 Dr. K C Chaudhuri Foundation.
Açıklama
Anahtar Kelimeler
Hypocalcemia, Magnesium-Hypomagnesemia, Seizure, TRPM6
Kaynak
Indian Journal of Pediatrics
WoS Q Değeri
Scopus Q Değeri
N/A
Cilt
75
Sayı
6
