阿尔斯特伦综合征：一名患有胰岛素抵抗性糖尿病的沙特女孩的新突变。
Alström syndrome: A novel mutation in Saudi girl with insulin-resistant diabetes.
作者信息
Bakar Ayman A, Kamal Naglaa Mohamed, Alsaedi Abdulaziz, Turkistani Reem, Aldosari Dima
机构信息
Pediatric Endocrinologist, Al-Hada Armed Forces Hospital, Taif, Saudi Arabia Pediatric Hepatologist Faculty of Medicine, Cairo University, Cairo, Egypt Pediatric Hepatologist Al-Hada Armed Forces Hospital Pediatric Resident, Al-Hada Armed Forces Hospital Medical intern, Taif university, Taif, Saudi Arabia.
出版信息
Medicine (Baltimore). 2017 Mar;96(10):e6192. doi: 10.1097/MD.0000000000006192.
RATIONALE
Alström syndrome is an autosomal recessive disorder characterized by hearing loss, blindness, obesity, non-insulin dependent diabetes, and others.
PATIENT CONCERN
A 10 years old Saudi girl, who presented with diabetic ketoacidosis and found to have hearing loss and blindness.
DIAGNOSIS
Alström syndrome.
INTERVENTIONS
Multidisciplinary team approach, with echocardiography, hearing test, eye exam and genetic test for Alström syndrome.
OUTCOMES
The patient has retinitis pigmentosa, bilateral hearing loss, double diabetes with weakly positive anti-insulin antibodies and DNA analysis showed novel mutation for Alström syndrome.
LESSONS
the combination of obesity, diabetes, hearing loss and blindness should alert the physician to test for Alström syndrome.
理论依据
阿尔斯特伦综合征是一种常染色体隐性疾病，其特征为听力丧失、失明、肥胖、非胰岛素依赖型糖尿病等。
患者情况
一名10岁沙特女孩，出现糖尿病酮症酸中毒，且被发现有听力丧失和失明症状。
诊断
阿尔斯特伦综合征。
干预措施
采用多学科团队方法，进行超声心动图检查、听力测试、眼科检查以及阿尔斯特伦综合征的基因检测。
结果
该患者患有色素性视网膜炎、双侧听力丧失、双重糖尿病且抗胰岛素抗体弱阳性，DNA分析显示存在阿尔斯特伦综合征的新突变。
经验教训
肥胖、糖尿病、听力丧失和失明同时出现应提醒医生对阿尔斯特伦综合征进行检测。
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