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目的通过1例我院确诊的戈谢病(GD)的患儿临床资料,探讨GD的基因型与临床表型的特点,以期提高儿科医生对戈谢病的认识。方法对2012年8月青岛妇女儿童医院确诊的1例戈谢病(GD)患儿进行辅助检查及基因结果的分析,并对文献进行复习。结果此例临床表型为1型,是GD的常见类型。基因型为L444P/L444P,是我国最常见的基因型。具有典型的临床、血液学特征。结论此病罕见,临床易误诊,注意鉴别诊断,有条件者尽早予酶替代治疗(ERT)。戈谢病人相似的表型可有多种不同基因型,而相同的基因型的患者,其临床表现、病程及治疗效果也不同。但某些基因型与神经系统受累有-定的相关性。我国最常见的突变等位基因为L444P,其他较常见的突变为F213I、N188S、V375L和M416V。基因突变类型谱与白种人有明显的区别。目前已明确70%的基因突变类型,通过基因分析进行GD的临床诊断和产前诊断已成为可能。
Objective To analyze the clinical features of GD genotypes and clinical phenotypes in a case of Gaucher disease (GD) diagnosed in our hospital in order to improve pediatricians’ understanding of Gaucher’s disease. Methods One case of Gaucher disease (GD) diagnosed in Qingdao Women and Children’s Hospital in August 2012 was analyzed by auxiliary examination and gene analysis, and the literature was reviewed. Results The clinical phenotype of this case is type 1, which is a common type of GD. The genotype is L444P / L444P, which is the most common genotype in China. Has a typical clinical, hematological characteristics. Conclusion The disease is rare, clinical misdiagnosis, pay attention to the differential diagnosis, as soon as possible to the enzyme replacement therapy (ERT). The similar phenotype of Gaucher patients can have a variety of different genotypes, while the same genotype in patients with different clinical manifestations, duration and treatment effect is also different. However, some genotypes are associated with nervous system involvement. The most common mutation allele in China is L444P. Other common mutations are F213I, N188S, V375L and M416V. There is a clear difference between gene mutation type spectrum and Caucasians. It is now clear that 70% of the gene mutation types, through the genetic analysis of GD clinical diagnosis and prenatal diagnosis has become possible.