儿童Alstrom综合征1例报告及文献复习

Alstrom syndrome in children: a case report and literature review

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.10549C>T,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。

Objective To analyze the clinical feature,diagnosis and treatment of Alstrom syndrome.Method Theclinical data of a case of Alstrom syndrome and the result of her ALMS1sequencing by the two generation sequencing wereretrospectively reviewed.Results The12year and10month old female suffered from dilated cardiomyopathy,obesity,opticnerve diseases,sensorineural hearing loss,high blood glucose and irregular menstruation since one month of birth.Laboratoryexamination showed she had high testosterone level,hyperglycemia,hyperlipidemia and fatty liver.High-throughput sequencingconfirmed there was ALMS1gene mutation which includes hybrid frameshift mutations of c.5418delC and p.Y1807Tfs*23,andheterozygous nonsense mutation of c.10549C>T and p.Q3517*,and c.5418delC was a new variation reported for the first time.Conclusion Alstrom syndrome is an autosomal recessive genetic disease,which is characterized by multiple organ dysfunctionand metabolic syndrome,and can be diagnosed by gene detection.