葡萄糖脑苷脂酶基因复合杂合突变致戈谢病Ⅱ型1例

A case of Gaucher disease typeⅡcaused by glucocererosidase gene compound heterozygous mutations

目的分析临床罕见病戈谢病的临床特征及基因特点。方法回顾性分析我院收治的1例10月龄贫血患儿的临床相关资料及全外显子基因检测结果。结果患儿女孩,贫血、肝脾肿大、喉软骨软化及生长发育落后;检测到患儿葡萄糖脑苷脂酶(GBA)基因存在2个杂合突变:c.588+1G>A(splicing),c.1448T>C(p.L483P),分别来源于先证者父母。结论戈谢病Ⅱ型是一种在婴儿期发病的急性神经型戈谢病,为戈谢病的罕见类型,通常表现为贫血、肝脾肿大、发育倒退和生长发育停滞,伴急性神经系统损害,其临床特征及基因分析对其明确诊断具有重要意义。

Objective To analyze the clinical characteristics and genetic features of Gaucher disease that is rare clinically.Methods The related clinical data and the results of whole exons gene testing of a 10-month patient with anemia in our hospital were retrospectively analyzed.Results The patient was female,who presented with anemia,hepatosplenomegaly,laryngomalacia and growth and development retardation.It was found through testing that there were two heterozygous mutation in glucocererosidase(GBA)gene:c.588+1G>A(splicing)and c.1448T>C(p.L483P),which came from her parents.Conclusion Gaucher disease typeⅡis an acute neurological Gaucher disease with the onset at infancy,which is a rare type.The disease is usually presented as anemia,hepatosplenomegaly,development regression,and growth and development arrest.It is often complicated with acute nervous damage,and its clinical features and genetic analysis are of great significance in confirming the diagnosis.