论文部分内容阅读
粘多糖代谢病(MPS I H)又称 Hurler 氏综合征,为较少见的常染色体隐性遗传病,具有软骨粘多糖与硫酸乙酰肝素(heparan sulfate)贮积特征,发生率为1∶10万(Lowry等)。本病是由于α-L-艾杜糖苷酸酶(α-L-iduronid-ase)缺乏导致粘多糖分解代谢障碍;其主要临床表现有角膜混浊、身材矮小、多骨胳发育不全、智力低下、尿中硫酸乙酰肝素与硫酸软骨素分泌增加与耳聋。本病命名不一,有脂肪软骨营养不良、Hunter 或 Hurler 综合征、承病(gargoy-lism)与粘多糖代谢异常症等。McKusick 分本病为五类,其中二类为常染色体隐性疾患,缺失上述的同一种酶,即 Scheie(MPS I S)与Hurler 氏(MPS I H)病。前者智力与寿命正常,后者智力迟钝,很少活到14岁。亦有报告
Mucinous polysaccharide metabolic disease (MPS IH), also known as Hurler’s syndrome, is a rare autosomal recessive disease with cartilage mucopolysaccharides and heparan sulfate (heparan sulfate) storage characteristics, the incidence of 1: 100000 (Lowry et al.). The disease is due to the lack of α-L-iduronidase (a-L-iduronid-ase) caused mucopolysaccharide catabolic disorders; its main clinical manifestations of corneal opacity, short stature, bony hypoplasia, mental retardation, Urinary heparan sulfate and chondroitin sulfate secretion increased and deafness. The disease is named after another, with fatty cartilage malnutrition, Hunter or Hurler syndrome, disease-causing (gargoy-lism) and mucopolysaccharides metabolic disorders. McKusick divided the disease into five categories, of which two are autosomal recessive disorders, the same enzymes are missing, namely Scheie (MPS I S) and Hurler’s (MPS I H) disease. The former intelligence and life expectancy normal, the latter mental retardation, rarely live to 14 years old. There are also reports