婴儿戈谢病一例

Infantile Gaucher disease: a case report

戈谢病属先天代谢性疾病,国内罕见,临床表现为多脏器受累,呈进行性,严重时可危及生命,易误诊,因此早期识别显得尤为重要。该文报告了1例7月大女性婴儿,因发现腹部肿块2 d入院,入院后行骨髓穿刺术发现疑似戈谢细胞,考虑戈谢病可能性大,查葡萄糖脑苷脂酶活性为0.36 nmol/(h·mg),并检测到4个杂合的基因突变。其父亲检测到1个杂合致病基因突变,母亲检测到3个杂合的基因突变。该例提示,戈谢病临床特征缺乏特异性,易被误诊,需及时完善骨髓穿刺术等相关检查。

Gaucher disease is a congenital metabolic disease,which is rarely encountered in China.It is clinically characterized as involvement with multiple organs and constant progression,even leading to mortality. In clinical practice,it is likely to make a misdiagnosis of Gaucher disease. Therefore,early diagnosis is of great significance. In this article,we reported a 7-month-old female infant suspected with Gaucher disease after bone marrow puncture. She was admitted to our hospital due to abdominal mass for 2 d. The activity ofβ-glucocerebrasidase was detected as 0. 36 nmol /（ h·mg）（ reference value 6. 8 nmol /（ h·mg）,and heterozygous mutation was identified in four genes. Heterozygous mutation was detected in one gene of her father,and three of her mother. This case hinted that it is likely to make a misdiagnosis of Gaucher disease due to lack of specific clinical manifestations. Bone marrow puncture and alternative examinations should be enhanced and delivered.