ELANE基因突变致重型先天性中性粒细胞缺乏症伴牙周损害1例
Mutations of the ELANE gene cause severe congenital neutropenia with periodontal disease: a case report
作者：陈炀, 王艳, 张琼, 张越茗, 邹静
Author：Chen Yang, Wang Yan, Zhang Qiong, Zhang Yueming, Zou Jing
收稿日期：2019-08-27 年卷（期）页码：2020,38(4):454-454-459
期刊名称：华西口腔医学杂志
Journal Name：West China Journal of Stomatology
关键字：重型先天性中性粒细胞缺乏症,牙周疾病,ELANE基因,
Key words：severe congenital neutropenia,periodontal disease,ELANE gene,
基金项目：四川省科技厅国际科技创新合作(2019YFH0025)
中文摘要
重型先天性中性粒细胞缺乏症是一种罕见的外周血中性粒细胞绝对计数减少的疾病,常伴有全口牙周组织的损害。本文报道1例ELANE基因突变导致的重型先天性中性粒细胞缺乏症患儿严重的牙周病损,患儿因全口牙松动、刷牙出血前来就诊,口腔检查为全口乳牙活跃性牙周病损伴后牙区牙槽骨广泛性吸收,经多学科会诊,1年后确诊为重型先天性中性粒细胞缺乏症。该患儿追踪3年,经过全身系统性疾病治疗和有效的口腔健康宣教及维护,在一定程度上缓解了牙周损害。
英文摘要
Severe congenital neutropenia is a rare disorder characterized by a consistently low absolute neutrophil count and periodontal disease. This report describes the case of an ELANE mutationin a patient with gingival bleeding and tooth mobility. Oral examination showed active periodontal infection of the primary dentition accompanied by alveolar bone loss in the posterior region. The patient was diagnosed with severe congenital neutropenia 1 year after multidisciplinary consultation. Treatment of the systemic disease and effective oral health education over a 3-year follow-up period relieved the periodontal infection and created favorable conditions for future repair.
【关闭】
