| Autor: |
Mankin, H. J., Trahan, C. A., Barnett, N. A., Laughead, J., Bove, C. M., Pastores, G. M. |
| Předmět: |
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| Zdroj: |
Clinical Genetics; Mar2006, Vol. 69 Issue 3, p209-217, 9p, 3 Charts |
| Abstrakt: |
Gaucher disease is an uncommon autosomal recessive disorder characterized by lysosomal storage of glucosyl ceramide, a material released during cell degradation. Patients with Gaucher disease often have significant hematologic, bone structural, and visceral problems which sometimes greatly affect their health and life style. Based on some extraordinary scientific discoveries over the past 45 years, a treatment system has evolved which consists of administration of an enzyme, which destroys the lysosome-stored material and to some extent restores the patients to good health. There are still some problems for these patients; however, and the purpose of the study is to define some of the clinical, sociologic, and psychologic problems with a specially designed questionnaire. Questionnaire data was collected for 128 patients from two institutions with complete anonymity, and the information compared against data from a National Health Inteview Survey. The results show that many of the patients still have fairly extensive problems, which could possibly be helped by some alterations in treatment protocols. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
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