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首页> 外文期刊>Journal of inherited metabolic disease >Outcome of enzyme replacement therapy in patients with Gaucher disease type I. The Romanian experience.
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Outcome of enzyme replacement therapy in patients with Gaucher disease type I. The Romanian experience.

机译：I型戈谢病患者中酶替代疗法的结果。罗马尼亚经验。

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AIM: 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. PATIENTS AND METHODS: 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. RESULTS: 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. CONCLUSIONS: 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.
机译：目的：本研究报告了在我国最近开始使用脑Cerezyme治疗后，对罗马尼亚I型Gaucher疾病患者的治疗反应的首次评估。患者与方法：24名患者（11-50岁）每两周接受一次Cerezyme 20-60 U / kg，至少持续18个月。每6个月评估血红蛋白，血小板计数，肝脾体积，血浆壳三糖苷酶和严重程度评分;还监测了骨骼射线照相术和骨密度测定法。结果：11例患者在开始治疗前被脾切除。 8例贫血（平均血红蛋白9.4 g / dl）和14例血小板减少症（平均65,692 / mm3），其中13例未行脾切除术。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加至147,818 / mm3。脾肿大改善（平均13.8x至5.6x正常），肝肿大改善（平均1.4x至1.06x正常），严重程度评分降低（平均15.9至8.4），血浆壳三糖苷酶水平从40,956降至11266 nmol / h / ml等离子体。所有患者的骨病临床改善;骨X线照相和骨密度测定未显示疾病进一步进展。我们观察到平均体重增加了4.3 kg，生活质量得到改善，并且没有治疗不良事件。结论：在罗马尼亚的I型Gaucher病患者中进行了18个月的酶替代治疗，导致血液学参数以及肝脾肿大明显改善。在大多数患者中，我们没有观察到骨病的进一步发展。为了改善骨骼疾病，需要更长的治疗时间。

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