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目的总结基因重组人生长激素(rhGH)在婴幼儿期Prader-Willi综合征治疗中的应用。方法 2012年3月、2012年6月河南中医学院第一附属医院儿童脑病诊疗康复中心收治的2例Prader-Willi综合征女性儿童,就其疾病经过、临床特征、rhGH治疗及生长发育情况总结分析。结果 2例均因发育迟缓就诊。例1 15q11.2缺失,9个月时开始rhGH注射治疗及饮食营养干预,随访至2岁8个月,发育基本正常。例2于2岁9个月开始rhGH治疗,随访至3岁6个月,发育显著进步。2例均未发现不良反应。结论早期诊断、早期rhGH补充治疗及营养干预可有效改善Prader-Willi综合征患儿预后,促进体格及智力运动发育。
Objective To summarize the application of recombinant human growth hormone (rhGH) in the treatment of Prader-Willi syndrome in infancy. Methods Two children with Prader-Willi syndrome admitted to the Children’s Encephalopathy Diagnostic and Rehabilitation Center of the First Affiliated Hospital of Henan College of Traditional Chinese Medicine from March 2012 to June 2012 were retrospectively analyzed for their disease course, clinical features, rhGH treatment and growth and development . Results 2 cases were due to stunting. Example 1 15q11.2 deletion, 9 months start rhGH injection therapy and diet nutrition intervention, up to 2 years and 8 months, basically normal development. Example 2 rhGH treatment started at 2 years and 9 months, followed up to 3 years and 6 months, the development of significant progress. No adverse reactions were found in 2 cases. Conclusion Early diagnosis, early rhGH supplement therapy and nutrition intervention can effectively improve the prognosis of Prader-Willi syndrome and promote physical and mental development.