Nelson J, Broadhead D, Mossman J
Department of Medical Genetics, Royal Victoria Hospital, Belfast, Northern Ireland.
Clin Genet. 1988 Feb;33(2):111-20. doi: 10.1111/j.1399-0004.1988.tb03421.x.
Clinical heterogeneity in MPS IV A (Mucopolysaccharidosis IV A, Morquio Disease Type A)has become more clearly identified in recent years. The clinical findings in 12 cases of MPS IV A are described. Clinical presentation was variable, and some cases were only mildly affected. All showed deficiency of N-acetylgalactosamine-6-sulphate sulphatase in fibroblasts, but the patient with the mildest clinical presentation showed a high residual enzyme activity. The urinary glycosaminoglycans (GAGs) were examined on all patients by a two-dimensional electrophoresis technique which proved to be highly reliable and efficient. In particular, no false negative results were obtained, a problem often encountered with routine screening methods. These cases support the division of MPS IV A into three subgroups: the severe "classical" type, an intermediate type and a mild type, all caused by N-acetylgalactosamine-6-sulphate sulphatase deficiency. Residual enzyme activity may be an important prognostic indicator.
近年来，IV型黏多糖贮积症A（MPS IV A，即A 型Morquio病）的临床异质性已得到更明确的认识。本文描述了12例MPS IV A患者的临床症状。临床表现各异，部分病例仅受到轻微影响。所有患者的成纤维细胞均显示N - 乙酰半乳糖胺 - 6 - 硫酸酯酶缺乏，但临床表现最轻的患者具有较高的残余酶活性。采用二维电泳技术对所有患者的尿糖胺聚糖（GAG）进行检测，结果证明该技术高度可靠且高效。特别是未出现假阴性结果，而这是常规筛查方法常遇到的问题。这些病例支持将MPS IV A分为三个亚组：严重的“经典”型、中间型和轻型，所有类型均由N - 乙酰半乳糖胺 - 6 - 硫酸酯酶缺乏引起。残余酶活性可能是一个重要的预后指标。
