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成年女性型戈谢病胡蜀红 华中科技大学同济医学院附属同济医院武汉430030 湖北省武汉市解放大道1095号，430030widow@163.com 摘要：目的 报道一例幼年发病中国成年女性型戈谢病患者的临床表现及致病基因突变，为儿科、血液科等临床医学工作者提供可以借鉴的戈谢病思路。方法 对患者的病史、临床症状、体征、影像学、骨髓细胞学、学检测结果进行分析；采用PCR-直接测序方法，对患者的父亲、母亲、和儿子外周血白细胞葡萄糖脑苷脂酶GBA）基因进行突变检测；并结合文献讨论戈谢病的发病机制、鉴别诊断以及治疗方法。结果 患者，女，31岁，出生时脾脏显著肿大（4岁时脾脏已切除），无神经系统症状，智力运动正常。入院前1年右侧大腿骨折，就诊时发现肝脏显著肿大，贫血，血丙种球蛋白增高，全身骨代谢增高，骨密度降低、溶骨性骨破坏和病理性骨折骨髓穿刺涂片找到戈谢细胞。白细胞β-葡糖苷酶活性降低（4.75 nmol/h/mg Pr，正常值5.43～14.35 nmol/h/mg Pr），符合型戈谢病。GBA基因检测结果为c.1448TC (L444P)纯合子突变。 结论型戈谢病患者典型表现以脾肿大和血小板减少为主，尤其是我国的戈谢病患者，发病较早，病情较重，GBA基因突变以 L444P纯合子突变为主。该病例提示临床上对脾脏明显肿大或伴有肝脏肿大的儿童或成年人在诊断时应考虑溶酶体积病的可能性，特别是合并有骨的患者，其患戈谢病的可能性更大。通过外周血白细胞GBA活性测定以及GBA基因突变检测可尽早实现确诊，及时开始酶替代法等特异性治疗，减少或延缓相关并发症的发生。 关键词：型戈谢病 ；葡萄糖脑苷脂酶；肝脾肿大； GBA基因 Report on one female adult with type I Gaucher disease and literature review HU Shu-hong, Chen chen , ZHU Wen-jin, ZHANG Ben-ping, HE Wen-tao# Department of Endocrinology and Metabolism,Tongji Hostiptal, Tongji Medical College,Huazhong University of Science and Technology,P.R.China,Wuhan,430030 Corresponding Author: widow@163.com Abstract Objective: We reported the clinical manifestations and GBA gene mutation in a female Gaucher disease patient to provide diagnostic and treatment strategy for physicians of pediatrics, hematology and inherited endocrine and metabolic department.Methode:Analysis were carried out for the labor investigations, imaging results, bone marrow cytology, peripheral leukocyte glucocerebrosidase(GBA)activity .GBA gene mutation was analyzed for the patients’ father, mother, an older sister, younger sister and son through PCR method. Then etiology , clinical manifestations, diagnosis and treatment were also discussed.Results: The patient(Aged 31) was found to have massive splenomegay at birth ( splenectomized at age of 4 years) and frature in the right leg one year before admission.After admission the patient presented with massive hepatomegay, anemia, hypergammaglobulinemia,generalized bone hypermetaboliasm in SPE