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

VernacularTitle:Alstr(o)m综合征临床特征分析及2例报告
Author: Jianhua LUO ; Ruiping YU ; Yan GU ; Bo LIU ; Yuanshuo FAN
Publication Type:Journal Article
Keywords: Alstr(o)m syndrome; Optic atrophy: Nerve deafness; Diabetes mellitus,type 2; Obesity
From: Chinese Journal of Endocrinology and Metabolism 2011;27(11):897-900
CountryChina
Language:Chinese
Abstract: 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.