Su P H, Hwu W L, Chiang S C, Chiu P C, Lin S J, Shu S G, Wang T R
Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.
J Formos Med Assoc. 1998 Mar;97(3):186-90.
The mucopolysaccharidoses are a group of inherited disorders of lysosomal storage of glycosaminoglycans. Among them, mucopolysaccharidosis (MPS) type II (Hunter's syndrome), caused by a deficiency in iduronate sulfatase, is the only one inherited in an X-linked recessive manner. We describe 12 Hunter's syndrome patients and seven carriers, with precise analysis of glycosaminoglycan content in urine and iduronate sulfatase activity in cultured fibroblasts and plasma. Their ages at the time of diagnosis ranged from 1 year 10 months to 11 years (mean 4.3 yr). The delay in diagnosis was from 1 month to 5 years (mean 2.1 yr) after the initial presentation. The most frequent initial complaints of the patients were delayed developmental milestones (75%) and speech (67%), although all patients were found to have coarsening of facial features at diagnosis. The difficulties in disease recognition allowed disease recurrence in four of the 11 families. Prompt clinical suspicion and referral will be important in genetic counseling for MPS type II and its management, if definitive therapy becomes available.
黏多糖贮积症是一组因溶酶体中糖胺聚糖蓄积而导致的遗传性疾病。其中，由艾杜糖醛酸硫酸酯酶缺乏引起的黏多糖贮积症II型（亨特综合征）是唯一一种以X连锁隐性方式遗传的疾病。我们描述了12例亨特综合征患者和7例携带者，并对尿液中的糖胺聚糖含量、培养的成纤维细胞和血浆中的艾杜糖醛酸硫酸酯酶活性进行了精确分析。他们确诊时的年龄在1岁10个月至11岁之间（平均4.3岁）。诊断延迟时间为首次出现症状后1个月至5年（平均2.1年）。患者最常见的初始症状是发育里程碑延迟（75%）和言语问题（67%），不过所有患者在确诊时均被发现面部特征变粗。疾病识别方面的困难导致11个家庭中有4个家庭出现疾病复发情况。如果有了确定性治疗方法，及时的临床怀疑和转诊对于黏多糖贮积症II型的遗传咨询及其管理将很重要。
