疾病进展

戈谢病

I型戈谢氏病的病程是不断进展的,可发展为很难或者根本不能逆转的病变。个体间的疾病进展很不相同并不能预测[1]。在某些病例,戈谢氏病是致命的[2] 。患者常因硬化、脓毒血症、肺病以及术后并发症等引起死亡[1,2]

体格改变

长期的体格改变包括:
脾脏增大,脾梗死,疤痕和结节[1]
进展性肝脏病变或门脉高压[1]
进展性骨病变,骨坏死和永久性残疾[3]
肺动脉高压[4]

生活质量改变

戈谢氏病会严重影响患者的身体健康及生活质量,妨碍患者参与正常的生活、学习和工作[5], 影响家庭乃至社会的和谐。

参考文献

1.Cox TM, Schofield JP. Gaucher’s disease: clinical features and natural history. Bailliere’s Clinical Haematology. 1997;10(4):657-689.

2.Grabowski G. Gaucher disease: enzymology, genetics, and treatment. In:Harris H, Hirshchorn K, eds. Advances in Human Genetics. New York, NY: Plenum Press; 1993:377-441.

3.Charrow J, Esplin JA, Gribble TJ, et al. Gaucher disease: recommendations on diagnosis, evaluation, and monitoring. Ach Intern Med. 1998;158:1754-1760.

4.Karem E, Elstein D, Abrahamov A, et al. Pulmonary function abnormalities in type 1 Gaucher disease. Eur Respir J 1996;9(2)340-345.

5.Verderese C, Graham OC, Holder-McShane C, et al. Gaucher’s disease: a pilot study of the symptomatic responses to enzyme replacement therapy. J Neurosci Nurs. 1993;25(5):296-301.