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对7例粘多糖病患儿的临床症状、体征、骨骼X线改变和尿粘多糖酸测定进行观察及综合分析,结果7例粘多糖病患儿有不同的临床改变,表现为生长发育落后,特殊面容,智力低下,肝、脾肿大,骨骼畸形,疝气等;均有典型的骨骼X线改变;2例24h尿粘多糖定量异常,Ⅰ、Ⅳ型分别为3例,1例未分型。提示粘多糖病是先天性细胞溶酶体内酸性粘多糖水解酶缺陷造成粘多糖降解代谢障碍的一种遗传代谢病,目前无特效治疗方法,预后差。早期诊断,早期治疗,可改善临床表现。
Seven cases of mucopolysaccharidosis in children with clinical symptoms, signs, changes in skeletal X ray and urine mucolytic acid were observed and analyzed, the results of seven cases of mucopolysaccharides in children with different clinical changes, the performance of backward growth and development, Special face, mental retardation, liver, splenomegaly, skeletal deformity, hernia and so on; all had typical skeletal X-ray changes; 2 cases of 24h urine quantitative polysaccharide abnormalities, Ⅰ, Ⅳ were 3 cases, . Suggest that mucopolysaccharidosis is a genetic metabolic disease caused by the deficiency of acid mucopolysaccharide hydrolyzate in in vivo lysosomal lysozyme, there is no effective treatment, the prognosis is poor. Early diagnosis, early treatment, can improve clinical performance.