Alstr(o)m综合征临床特征分析及2例报告

目的 Alstr(o)m综合征是一种罕见的常染色体隐性遗传疾病,临床表现多样.通过探讨Alstr(o)m综合征的主要临床特征及实验室结果,以增强对该病的认识.方法 采用回顾性分析,对本科收治的2例患者及国内报道的7例Alstr(o)m综合征患者从临床特征、实验室结果、发病年龄进行综合分析.结果 9例患者均有视力、听力障碍,8例患者有身材矮小及自幼肥胖、7例有黑棘皮症、6例有糖尿病、高尿酸血症、4例有心脏损害；5例患者有肝功能损害及高甘油三酯血症,男性患者有性腺功能减低,1例患者有尿崩症及精神症状.9例患者主要症状出现的平均年龄:眼部病变、视神经萎缩为6.0岁,神经性耳聋为10.3岁,2型糖尿病出现在14.5岁.结论 Alstr(o)m综合征多以视力障碍为首发表现,继后常伴有神经性耳聋、幼时胖、身材矮小、黑棘皮症、糖尿病等；实验室结果常有肝功能损害、高甘油三酯等.这些发现可提高对该病早期正确诊断和恰当的处理.

A review of clinical characteristics and laboratory data of Alstr(o)m syndrome and two cases report

Objective Alstr(o)m syndrome (AS) is a rare,autosomal recessive inherited disease characterized by various clinical manifestations.The aim of this study was to review the clinical characteristics and laboratory findings of AS.Methods Two cases of AS was reported.Combined with the clinical data of 7 cases of AS which had been reported in China,the clinical characteristics and laboratory findings of AS were reviewed.Results Visual disorder( median onset age:6.0 years ) and dysaudia( median onset age:10.3 years ) were found in 9 patients,short stature and obesity in 8 patients,acanthosis nigricans in 7 patients,diabetes mellitus( median onset age:14.5 years) in 6 patients,and heart disease in 4 patients; hyperuricemia was detected in 6 patients,hepatic dysfunction and hypertriglyceridemia in 5 patients.Conclusions Visual disorder was the first presentation in patients with AS.Deafness,obesity,diabetes,and short stature were common.These findings were helpful in making an early and accurate diagnosis and appropriate treatment.