Individualized long-term enzyme therapy for Gaucher disease type 1 in Slovenia

摘要: Background:  Gaucher disease type 1 (GD1) was the first lysosomal storage disorder for which an effective enzyme replacement therapy developed. We describe management of eight GD1 patients in Slovenia who were diagnosed between ages 2 and 15 years. Methods:  Patients individually assessed to establish initial doses monitored frequently determine effects long-term dose regimens. Outcomes up 10 years after treatment are described by changes Zimran severity score index, chitotriosidase acid phosphatase levels, 2001, bone parameters (DEXA mineral density scores MRI marrow burden score). Results:  Following initiation with individualized regimens (range 25–56 U/kg/14 days) followed a gradual reduction 12–35 during maintenance, status improved all as measured index (from mean 11.25 [median 11.5] before 4.12 3.5] at last report). Anemia leucopenia resolved patients, levels decreased (and over 75% six patients) within year treatment. Bone DXA seven patients. Conclusions:  conclude that relatively low, is well-tolerated children young adults disease, regularly status.