戈谢病II型患儿1例报告

临床儿科杂志 ›› 2014, Vol. 32 ›› Issue (3): 287-288.

戈谢病II型患儿1例报告

王美娟，钟雪梅，马昕，张艳玲

首都儿科研究所附属儿童医院（北京　100020）

收稿日期:2013-12-07 出版日期:2014-03-15 发布日期:2014-03-15

Gaucher disease II: a case report　

WANG Meijuan, ZHONG Xuemei, MA Xin, ZHANG Yanling　

(Children′s Hospital Affiliated to Capital Institute of Pediatrics, Beijing 100020, China)

Received:2013-12-07 Published:2014-03-15 Online:2014-03-15

摘要/Abstract

摘要：

　目的　探讨戈谢病的临床特点及诊断。方法　回顾性分析1例经酶学及基因学诊断的戈谢病Ⅱ型患儿的临床特点、葡萄糖脑苷酯酶活性及基因突变类型。结果　女孩，14个月，主要表现为肝脾大、眼球运动障碍、智力落后；骨髓片可见戈谢细胞；葡萄糖脑苷酯酶活性为0.3 nmol/(g·min)，明显下降；壳三糖酶活力为87 317 nmol/(L·min)，明显升高；分析葡萄糖脑苷脂酶基因，明确突变类型为M85T(c.371T>C) 和 R120W(c.475C>T)。结论　戈谢病Ⅱ型主要表现为肝脾大，可伴有神经系统受损，葡萄糖脑苷脂酶活性及基因分析对诊断有重要意义。

关键词：　戈谢病；　葡萄糖脑苷脂酶；　戈谢细胞

Abstract: 　Objectives　To investigate the clinical characteristics and diagnosis of Gaucher disease. Methods　The clinical features, enzyme activities and genetypes of an infant with Gaucher disease II were analyzed. Results　The main clinical manifestations of the infant included hepatosplenomegaly, ocular dyscinesia and mental retardation. Gaucher′s cells could be seen in the bone marrow aspirates. Glucocerebrosidase activity was low (0.3 nmol/g/min). Serum chitotriosidase activity was high (87317 nmol/L/min). GBA mutations were M85T (c.371T>C) and R120W (c.475C>T). Conlusions　Main features of Gaucher disease II are hepatosplenomegaly with nerve system injury. Glucocerebrosidase activity and gene analysis are important for the diagnosis of Gaucher disease.#br#Key words:　Gaucher disease;　glucocerebrosidase;　Gaucher cell#br#

王美娟，钟雪梅，马昕，张艳玲. 戈谢病II型患儿1例报告[J]. 临床儿科杂志, 2014, 32(3): 287-288.

WANG Meijuan,ZHONG Xuemei,MA Xin,ZHANG Yanling　. Gaucher disease II: a case report　[J]. , 2014, 32(3): 287-288.