[阿尔斯特伦综合征：漏诊及其后果]
[Alström-syndrome: a missed diagnosis with consequences].
作者信息
Baumeister F A M, Sadowski B, Schmitz T, Grübl A
机构信息
Kinderklinik und Poliklinik der Technischen Universität München, Kinderklinik Schwabing, Munich.
出版信息
Klin Padiatr. 2003 Jul-Aug;215(4):226-7. doi: 10.1055/s-2003-41397.
BACKGROUND
Alström-syndrome (OMIM: 203 800) is a rare disease with autosomal recessive inheritance. Characteristic features are retinal degeneration, truncal obesity, diabetes mellitus and sensorineural hearing loss. Further variable symptoms include chronic hepatitis and asthma.
CASE REPORT
A patient with asthma associated with retinal degeneration is presented. The investigations demonstrated truncated obesity, sensorineural deafness and impaired glucose tolerance and Alstrom-syndrome was diagnosed. She received hearing aids, diabetes training and is regularly reinvestigated for further manifestations of Alström-syndrome.
背景
阿尔斯特伦综合征（OMIM：203800）是一种罕见的常染色体隐性遗传病。其特征性表现为视网膜变性、躯干性肥胖、糖尿病和感音神经性听力损失。其他可变症状包括慢性肝炎和哮喘。
病例报告
本文报告了一名患有哮喘并伴有视网膜变性的患者。检查发现患者存在躯干性肥胖、感音神经性耳聋和糖耐量受损，最终诊断为阿尔斯特伦综合征。她佩戴了助听器，接受了糖尿病培训，并定期接受复查以监测阿尔斯特伦综合征的进一步表现。
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