儿童Alstrom综合征1例报告及文献复习
发布时间：2018-07-20 20:43
【摘要】：目的分析罕见的Alstrom综合征的临床特征,及诊断和治疗。方法回顾1例Alstrom综合征患儿的临床资料及二代测序检测ALMS1基因分析结果,并复习相关文献。结果 12岁10个月的女性患儿,自出生1个月余患扩张性心肌病,之后逐渐出现、肥胖、视神经疾患、感音神经性听力下降、血糖偏高、月经不规则。实验室检查显示,存在高雄激素水平、高血糖、高血脂、脂肪肝表现。高通量测序分析证实存在ALMS1基因突变,c.5418del C,p.Y1807Tfs*23的杂合移码变异,c.10549CT,p.Q3517*的杂合无义变异;其中,c.5418del C为首次报道的新变异。结论 Alstrom综合征为常染色体隐性遗传性疾病,主要表现为多脏器功能减退、代谢综合征等,可通过基因检测确诊。
[Abstract]:Objective to analyze the clinical features, diagnosis and treatment of rare Alstrom syndrome. Methods Clinical data and second generation sequencing of ALMS1 gene in one child with Alstrom syndrome were reviewed. Results the female children aged 12 years and 10 months suffered from dilated cardiomyopathy more than one month after birth and then gradually appeared obesity optic nerve diseases sensorineural hearing loss high blood sugar irregular menstruation. Laboratory tests showed hyperandrogen levels, hyperglycemia, hyperlipidemia, and fatty liver manifestations. High-throughput sequencing analysis confirmed the existence of the heterozygous code shift variation of ALMS1 gene mutation, c. 5418del Cp. Y1807Tfsfsl23, c. 10549 CTP. Q3517 *, in which c. 5418del C was the first reported new mutation. Conclusion Alstrom syndrome is an autosomal recessive hereditary disease, which is characterized by multiple organ dysfunction and metabolic syndrome.
【作者单位】： 福建省龙岩市中医院;上海交通大学医学院附属上海儿童医学中心;
【分类号】：R725.9
，
本文编号：2134717
[Abstract]:Objective to analyze the clinical features, diagnosis and treatment of rare Alstrom syndrome. Methods Clinical data and second generation sequencing of ALMS1 gene in one child with Alstrom syndrome were reviewed. Results the female children aged 12 years and 10 months suffered from dilated cardiomyopathy more than one month after birth and then gradually appeared obesity optic nerve diseases sensorineural hearing loss high blood sugar irregular menstruation. Laboratory tests showed hyperandrogen levels, hyperglycemia, hyperlipidemia, and fatty liver manifestations. High-throughput sequencing analysis confirmed the existence of the heterozygous code shift variation of ALMS1 gene mutation, c. 5418del Cp. Y1807Tfsfsl23, c. 10549 CTP. Q3517 *, in which c. 5418del C was the first reported new mutation. Conclusion Alstrom syndrome is an autosomal recessive hereditary disease, which is characterized by multiple organ dysfunction and metabolic syndrome.
【作者单位】： 福建省龙岩市中医院;上海交通大学医学院附属上海儿童医学中心;
【分类号】：R725.9
，
本文编号：2134717
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