A case of hypomagnesemia with secondary hypocalcemia caused by Trpm6 gene mutation |
| |
| Authors: | Hursit Apa Ertan Kayserili Hasan Agin Murat Hizarcioglu Pamir Gulez Afig Berdeli |
| |
| Institution: | (1) Department of Pediatric Emergency, Izmir, Turkey;(2) Department of Pediatrics Dr. Behcet Uz Children’s Hospital, Izmir, Turkey;(3) Department of Ege University Medical Faculty, Izmir, Turkey;(4) Pediatric Emergency Department, Dr. Behcet Uz Children’s Hospital, Izmir, Turkey |
| |
| Abstract: | 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. |
| |
| Keywords: | Magnesium-Hypomagnesemia Seizure Hypocalcemia TRPM6 |
| 本文献已被 PubMed SpringerLink 等数据库收录！ |
|
