A case of hypomagnesemia with secondary hypocalcemia caused by Trpm6 gene mutation.
Indian J Pediatr
;
2008 Jun; 75(6): 632-4
Artigo
em Inglês
| IMSEAR
| ID: sea-81513
ABSTRACT
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.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Linhagem
/
Convulsões
/
Humanos
/
Masculino
/
Análise Mutacional de DNA
/
Cálcio
/
Análise de Sequência de DNA
/
Canais de Cátion TRPM
/
Hipocalcemia
/
Lactente
Idioma:
Inglês
Revista:
Indian J Pediatr
Ano de publicação:
2008
Tipo de documento:
Artigo
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