Ⅰ型黏多糖贮积症/赫勒患者接受酶替代疗法后器官表现的进展。

Progression of organ manifestations upon enzyme replacement therapy in a patient with mucopolysaccharidosis type I/Hurler.

机构信息

Division of Biochemical Diseases, Department of Pediatrics, British Columbia Children's Hospital, Vancouver, Canada.

出版信息

World J Pediatr. 2009 Nov;5(4):319-21. doi: 10.1007/s12519-009-0062-x. Epub 2009 Nov 13.

DOI:10.1007/s12519-009-0062-x

PMID:19911152

Abstract

BACKGROUND

Enzyme replacement therapy (ERT) has been increasingly used as an interim treatment in severe mucopolysaccharidosis type I (MPSI)/Hurler patients prior to hematopoietic stem cell transplantation (HSCT).

METHODS

We present the outcome of a patient with MPSI/Hurler after 14 months of ERT prior to HSCT.

RESULTS

Urinary glucosaminoglycan excretion decreased by 70% after one month of ERT. Liver volume decreased by 14% of baseline after 12 months of ERT. Pre-existing thoracolumbar kyphosis progressed to thoracolumbar dislocation with complete displacement of facets after 12 months of ERT. New development of mitral valve thickening was found by echocardiography and mild hearing loss progressed to severe sensorineural hearing loss after 13 months of ERT.

CONCLUSIONS

ERT over a period of 14 months did not prevent progression of organ manifestations in our patient. Patients should be monitored every 6 months for cardiac, skeletal and audiological involvement on ERT.

摘要

背景

酶替代疗法（ERT）已越来越多地用作严重黏多糖贮积症 I 型（MPSI）/Hurler 患者在造血干细胞移植（HSCT）前的临时治疗方法。

方法

我们介绍了一名 MPSI/Hurler 患者在 HSCT 前接受 14 个月 ERT 的结果。

结果

ERT 治疗一个月后，尿氨基葡聚糖排泄量减少了 70%。ERT 治疗 12 个月后，肝脏体积减少了基线的 14%。在 ERT 治疗 12 个月后，先前存在的胸腰椎后凸进展为胸腰椎脱位，关节突完全移位。心脏超声发现新出现的二尖瓣增厚，ERT 治疗 13 个月后，轻度听力损失进展为重度感音神经性听力损失。