Grigorescu Sido P, Drugan C, Cret V, Al-Kzouz C, Denes C, Coldea C, Zimmermann A
1st Pediatric Clinic, Iuliu Hatieganu University of Medicine and Pharmacy Cluj, 68 Motilor str., CP 494, of Cluj 1, 400370, Cluj, Romania.
J Inherit Metab Dis. 2007 Oct;30(5):783-9. doi: 10.1007/s10545-007-0621-z. Epub 2007 Aug 20.
This study reports the first evaluation of therapeutic response in Romanian patients with Gaucher disease type I, after therapy with Cerezyme recently became available in our country.
24 patients (11-50 years) received Cerezyme 20-60 U/kg every two weeks for at least 18 months. Haemoglobin, platelet count, volume of the liver and spleen, plasma chitotriosidase and the severity score were assessed every 6 months; skeletal radiography and osteodensitometry were also monitored.
Eleven patients were splenectomized before start of therapy. Eight patients had anaemia (mean haemoglobin 9.4 g/dl) and 14 patients, of whom 13 were without splenectomy, had thrombocytopenia (mean 65,692/mm3). Haemoglobin values normalized after 6 months and the platelet count increased to 147,818/mm3 after 18 months of treatment. Splenomegaly improved (mean 13.8x to 5.6x normal), hepatomegaly improved (mean 1.4x to 1.06x normal), the severity score decreased (mean 15.9 to 8.4), plasma chitotriosidase levels showed a reduction from 40,956 to 11,266 nmol/h per ml plasma. Bone disease improved clinically in all patients; bone radiography and osteodensitometry showed no further disease progress. We observed a mean weight gain of 4.3 kg, an improvement in quality of life, and the absence of therapeutic adverse events.
Enzyme replacement therapy administered for 18 months in Romanian patients with Gaucher disease type I led to a marked improvement in haematological parameters and hepato- and splenomegaly. In the majority of patients we observed no further progress of bone disease; for an improvement in skeletal disease, a longer treatment period is required.
本研究报告了在我国最近可获得思而赞治疗后，对罗马尼亚I型戈谢病患者治疗反应的首次评估。
24名患者（年龄11 - 50岁）每两周接受一次20 - 60 U/kg的思而赞治疗，持续至少18个月。每6个月评估血红蛋白、血小板计数、肝脏和脾脏体积、血浆壳三糖苷酶及严重程度评分；同时监测骨骼X线摄影和骨密度测定。
11名患者在治疗开始前已行脾切除术。8名患者有贫血（平均血红蛋白9.4 g/dl），14名患者有血小板减少症（平均65,692/mm³），其中13名未行脾切除术。治疗6个月后血红蛋白值恢复正常，治疗18个月后血小板计数增至147,818/mm³。脾肿大改善（平均从正常的13.8倍降至5.6倍），肝肿大改善（平均从正常的1.4倍降至1.06倍），严重程度评分降低（平均从15.9降至8.4），血浆壳三糖苷酶水平从40,956降至11,266 nmol/h每毫升血浆。所有患者的骨病在临床上均有改善；骨骼X线摄影和骨密度测定显示疾病无进一步进展。我们观察到平均体重增加4.3 kg，生活质量改善，且未出现治疗相关不良事件。
对罗马尼亚I型戈谢病患者进行18个月的酶替代治疗可使血液学参数以及肝脾肿大得到显著改善。在大多数患者中，我们观察到骨病无进一步进展；对于骨骼疾病的改善，需要更长的治疗期。
