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粘多糖病是一种少见的隐性遗传性疾病,系由粘多糖代谢的先天缺陷所致。因粘多糖分解代谢障碍而大量蓄积于人体器官、组织中,而造成体格、智力发育障碍。本病较少见,我国曾报道过本病Ⅰ型10例。我院最近见到一家兄妹俩人均患此病,现报道如下。【例1】方××,女性,3岁2个月,浙江省浦江县人。因经常咳嗽、气急,近6~7天来加重,伴腹胀及两下肢浮肿,于1979年5月19日入院。入院后发现患儿智力明显落后于同年龄小儿,面部表情呆板迟钝,多汗。患儿系第二胎足月顺产,母孕期健康。出生时正常,生后4~5个月起罹患
Mucopolysaccharidosis is a rare recessive hereditary disease caused by the inherent defects in the metabolism of mucopolysaccharides. Due to mucopolysaccharide catabolism and a large number of accumulation in human organs and tissues, resulting in physical and mental retardation. The disease is rare, China has reported 10 cases of this disease type Ⅰ. Our hospital recently saw a brother and sister both suffer from the disease are reported below. [Example 1] side × ×, female, 3 years old and 2 months, Pujiang County, Zhejiang Province. Due to frequent cough, shortness of breath, to increase in recent 6 to 7 days, with bloating and lower extremity edema, was admitted to hospital on May 19, 1979. Admission found that children with mental retardation obviously behind the children of the same age, facial expression dull, sweating. Children with full-term second-term fetus, pregnancy during pregnancy. Normal birth, 4 to 5 months after birth suffering from