【摘要】：目的分析罕見的Alstrom綜合征的臨床特征,及診斷和治療。方法回顧1例Alstrom綜合征患兒的臨床資料及二代測序檢測ALMS1基因分析結(jié)果,并復(fù)習(xí)相關(guān)文獻。結(jié)果 12歲10個月的女性患兒,自出生1個月余患擴張性心肌病,之后逐漸出現(xiàn)、肥胖、視神經(jīng)疾患、感音神經(jīng)性聽力下降、血糖偏高、月經(jīng)不規(guī)則。實驗室檢查顯示,存在高雄激素水平、高血糖、高血脂、脂肪肝表現(xiàn)。高通量測序分析證實存在ALMS1基因突變,c.5418del C,p.Y1807Tfs*23的雜合移碼變異,c.10549CT,p.Q3517*的雜合無義變異;其中,c.5418del C為首次報道的新變異。結(jié)論 Alstrom綜合征為常染色體隱性遺傳性疾病,主要表現(xiàn)為多臟器功能減退、代謝綜合征等,可通過基因檢測確診。
[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.
【作者單位】： 福建省龍巖市中醫(yī)院;上海交通大學(xué)醫(yī)學(xué)院附屬上海兒童醫(yī)學(xué)中心;
【分類號】：R725.9
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本文編號：2134717