Clinical characteristics and gene analysis in three children with Gitelman syndrome / 临床儿科杂志
Journal of Clinical Pediatrics
;
(12): 889-893, 2017.
Artigo
em Chinês
| WPRIM
| ID: wpr-665059
ABSTRACT
Objectives To explore the clinical and gene mutation characteristics of Gitelman syndrome in children. Method The clinical data of 3 children with Gitelman syndrome were retrospectively analyzed. Results All three cases were male and their age were 3, 8 and 10 years . The clinical manifestations were hypokalemia, hypomagnesemia, alkalosis, hyperreninemia,and hyperaldosteronemia.Gene detection revealed a complex heterozygous mutation in the SLC12A3 gene.A total of 5 mutation sites were found in the SLC12A3 gene,c.179C>T(Thr60Met),c.248 G>A(Arg83Gln),c.2129 C>A(Ser710X), c.2660+1G>A, c.1456G>A (Asp486Asn). After the diagnosis was confirmed, they were treated with potassium supplement, magnesium supplement, and spironolactone and the conditions were improved in all cases. Conclusions In children with hypokalemia, be aware of Gitelman syndrome, and gene detection is helpful for the diagnosis.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Idioma:
Chinês
Revista:
Journal of Clinical Pediatrics
Ano de publicação:
2017
Tipo de documento:
Artigo
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