Cleary M A, Wraith J E
Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, UK.
Acta Paediatr. 1995 Mar;84(3):337-9. doi: 10.1111/j.1651-2227.1995.tb13640.x.
The presenting features of 39 patients with mucopolysaccharidosis (MPS) type IH are described. The mean age at diagnosis was approximately 9 months and it is difficult to see how this can be reduced without consideration of newborn screening. An earlier age at diagnosis is likely to lead to better results following therapy such as bone marrow transplantation. Clinical features which should arouse suspicion of MPS IH include frequent ENT surgery and recurrent herniae. Clinical vigilance is needed for early diagnosis.
本文描述了39例I型黏多糖贮积症（MPS）患者的临床表现。诊断时的平均年龄约为9个月，若不考虑新生儿筛查，很难看出如何能降低这一年龄。诊断时年龄较小可能会使骨髓移植等治疗后取得更好的效果。应引起对I型MPS怀疑的临床特征包括频繁的耳鼻喉科手术和复发性疝。早期诊断需要临床警惕。
