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

doi:10.7518/hxkq.2020.04.018

Abstract

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

CLC Number:

R781.6

Chen Yang, Wang Yan, Zhang Qiong, Zhang Yueming, Zou Jing. Mutations of the ELANE gene cause severe congenital neutropenia with periodontal disease: a case report[J]. West China Journal of Stomatology, 2020, 38(4): 454-459.

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检查时间	白细胞计数/	中性粒细胞计数/
检查时间	（×10⁹·L^-1）	（×10⁹·L^-1）
2010年1月（初诊）	4.90	0.26
2010年11月	3.60	0.41
2012年4月	5.46	0.23
2013年1月	3.09	0.11