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首页> 外文期刊>Egyptian Journal of Medical Human Genetics >Outcome of enzyme replacement therapy in children with Gaucher disease: The Egyptian experience
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Outcome of enzyme replacement therapy in children with Gaucher disease: The Egyptian experience

机译：高雪氏病患儿进行酶替代疗法的结果：埃及的经验

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Gaucher disease is the most prevalent lysosomal storage diseases which results from inherited deficiency in the glucocerebrosidase enzyme. Three main clinical forms have been described: type I non-neuropathic, type II acute neuropathic and type III subacute neuropathic. Although it is panethnic disease, its presentation has some ethnic specific characteristics. In this work, we present specific characteristics as well as our experience in diagnosing and managing a group of Egyptian patients with this disease. The study included 48 patients with Gaucher disease attending Children’s Hospital, Ain Shams University. The recombinant enzyme imiglucerase (cerezyme) was given in a dose of 60U/kg/2weeks. Haemoglobin, platelet count, plasma chitotriosidase, and abdominal ultrasound were assessed before starting therapy and every 6months. Molecular analysis was done to 23 patients. At presentation, the mean age was 2.54±3.8years. Ten patients (20.8%) had type I, 6 had type II (12.5%) and 26 had type III Gaucher disease (66.7%). The commonest genotype was homozygous L444P which was present in 13 patients (56.5%) followed by homozygous N370S; found in three patients (13.04%). Follow up after enzyme replacement therapy revealed a significant increase in weight and height, haemoglobin level and platelet count and slow reduction in the liver span and spleen length. Bone manifestations showed slow but complete improvement while neurological and respiratory manifestations were partially ameliorated with individual variations. To conclude, since most of Egyptian children with GD have type III disease and L444P/L444P genotype, a minimum dose of 60U/kg/2weeks should be maintained until adulthood. Higher doses started at an early age may delay the progression of neurological symptoms. Pulmonary involvement is not rare in Egyptian patients and may respond to dose increase or dose fractionation. Cardiovascular and renal involvement should be further studied in our population.
机译：高雪氏病是最普遍的溶酶体贮积病，其是由葡萄糖脑苷脂酶的遗传性缺陷引起的。已经描述了三种主要的临床形式：I型非神经性，II型急性神经性和III型亚急性神经性。尽管是泛疾病，但它的表现具有某些种族特有的特征。在这项工作中，我们介绍了一些特定的特征以及我们在诊断和管理一群患有这种疾病的埃及患者中的经验。该研究纳入Ain Shams大学儿童医院就诊的48例高雪氏病患者。重组酶伊米苷酶（cerezyme）的剂量为60U / kg / 2周。开始治疗前和每6个月评估血红蛋白，血小板计数，血浆壳三糖苷酶和腹部超声。对23名患者进行了分子分析。报告时，平均年龄为2.54±3.8岁。 I型患者10例（20.8％），II型患者6例（12.5％），Gaucher病III型26例（66.7％）。最常见的基因型是纯合子L444P，它出现在13例患者中（56.5％），其次是纯合子N370S。在三名患者中发现（13.04％）。酶替代治疗后的随访发现体重和身高，血红蛋白水平和血小板计数显着增加，肝脏跨度和脾脏长度减慢。骨表现缓慢但完全改善，而神经和呼吸表现因个体差异而部分改善。总而言之，由于大多数患有GD的埃及儿童患有III型疾病和L444P / L444P基因型，因此应维持至少60U / kg / 2周的剂量，直到成年。从幼年开始较高的剂量可能会延迟神经系统症状的发展。肺部受累在埃及患者中并不罕见，并且可能对剂量增加或剂量分级有反应。心血管和肾脏受累应在我们的人群中进一步研究。

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