两名同胞患短暂性新生儿糖尿病及KCNJ11基因激活突变
Transient neonatal diabetes mellitus and activating mutation in the KCNJ11 gene in two siblings.
作者信息
Kamoun T, Chabchoub I, Ben Ameur S, Kmiha S, Aloulou H, Cave H, Polak M, Hachicha M
机构信息
Faculty of medicine Sfax, university of Sfax, Sfax, Tunisia; Service de pédiatrie, pediatric department, Hédi Chaker hospital, El Ain street K 0.5, 3029 Sfax, Tunisia.
Faculty of medicine Sfax, university of Sfax, Sfax, Tunisia; Service de pédiatrie, pediatric department, Hédi Chaker hospital, El Ain street K 0.5, 3029 Sfax, Tunisia.
出版信息
Arch Pediatr. 2017 May;24(5):453-456. doi: 10.1016/j.arcped.2017.02.021. Epub 2017 Mar 24.
Transient neonatal diabetes mellitus is a rare disease usually associated with chromosome 6 abnormalities. Mutations of the genes encoding the potassium channel are rarely associated with these transitional forms. Herein, we report the clinical features of two siblings with a heterozygous mutation C679 G>A in the KCNJ11 gene.
短暂性新生儿糖尿病是一种罕见疾病，通常与6号染色体异常相关。编码钾通道的基因突变很少与这些过渡形式相关。在此，我们报告了两名携带KCNJ11基因杂合突变C679 G>A的同胞的临床特征。
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