新加坡商务签证须知-内科急危重症杂志.doc

成年女性I型戈谢病一例并文献复习 胡蜀红1* 陈琛2 朱文君1 张本平1 何文涛1# 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，430030 1.内分泌科;2.心内科; #通讯作者： widow@163.com 摘要：目的: 报道一例幼年发病合并骨损伤的中国成年女性I型戈谢病患者的临床表现及致病基因突变，为儿科、血液科、遗传代谢和内分泌科等相关科室的临床医学工作者提供可以借鉴的戈谢病诊疗思路。方法: 对患者的病史、临床症状、体征、影像学、骨髓细胞学、葡萄糖脑苷脂酶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、姐姐、妹妹和儿子的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、主要症状、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，智力和运动正常。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，骨损伤症状（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。外周血白细胞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I型戈谢病特征。GBA基因检测结果为c.1448TC (L444P)纯合子突变。 结论: I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贮积病的可能性，特别是合并有骨损伤的患者，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，可减少或延缓相关并发症的发生。 关键词：I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.A