A review of clinical characteristics and laboratory data of Alstr(o)m syndrome and two cases report / 中华内分泌代谢杂志

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 age6.0 years ) and dysaudia( median onset age10.3 years ) were found in 9 patients,short stature and obesity in 8 patients,acanthosis nigricans in 7 patients,diabetes mellitus( median onset age14.5 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.