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目前已认识到的粘多糖症有七型,其中Ⅶ型(β葡糖苷酸酶缺乏)和Ⅶ型(仅报导了一例)是最近才被认识的。1973年,Sly 等人首次从临床上观察了一例β-葡糖苷酸酶缺乏的黑人患儿。同年Hall 等人证实了此患儿体内成纤维细胞中的酶缺陷是本病的特征。本文报导了一例新病例和一例随访病例的临床及生化表观,并对迄今已报导的10例病例进行了综合分析。病例1:忠者为6岁的土耳其女孩,其母正常妊娠,早产4周,臀位分娩。父母无
There are seven types of mucopolysaccharides currently recognized, of which type Ⅶ (beta glucuronidase deficiency) and type Ⅶ (only one reported) have recently been identified. In 1973, Sly and others for the first time a clinical observation of a case of β-glucuronidase deficiency in black children. In the same year, Hall et al. Confirmed that the enzyme deficiency in fibroblasts of this infantile was characteristic of this disease. This article reports the clinical and biochemical findings of a new case and a follow-up case, and a comprehensive analysis of the 10 reported cases to date. Case 1: loyal to 6-year-old Turkish girl, the mother of normal pregnancy, premature delivery for 4 weeks, breech delivery. No parents