华西口腔医学杂志 ›› 2020, Vol. 38 ›› Issue (4): 454-459.doi: 10.7518/hxkq.2020.04.018

• 病例报告 • 上一篇    下一篇

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

陈炀(), 王艳, 张琼, 张越茗, 邹静()   

  1. 口腔疾病研究国家重点实验室 国家口腔疾病临床医学研究中心 四川大学华西口腔医院儿童口腔科,成都 610041
  • 收稿日期:2019-08-27 修回日期:2020-02-19 出版日期:2020-08-01 发布日期:2020-08-03
  • 通讯作者: 邹静 E-mail:zoujing1970@126.com
  • 作者简介:陈炀,硕士,E-mail: 282520150@qq.com
  • 基金资助:
    四川省科技厅国际科技创新合作(2019YFH0025)

Mutations of the ELANE gene cause severe congenital neutropenia with periodontal disease: a case report

Chen Yang(), Wang Yan, Zhang Qiong, Zhang Yueming, Zou Jing()   

  1. State Key Laboratory of Oral Diseases & National Clinical Research Center for Oral Diseases & Dept. of Pediatric Dentistry, West China Hospital of Stomatology, Sichuan University, Chengdu 610041, China
  • Received:2019-08-27 Revised:2020-02-19 Online:2020-08-01 Published:2020-08-03
  • Contact: Zou Jing E-mail:zoujing1970@126.com
  • Supported by:
    International Science and Technology Innovation Cooperation Program of Science and Technology Department of Sichuan Province(2019YFH0025)

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。

关键词: 重型先天性中性粒细胞缺乏症, 牙周疾病, ELANE基因

Abstract:

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.

Key words: severe congenital neutropenia, periodontal disease, ELANE gene

中图分类号: