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ELANE基因的新型突变Ser126Leu导致先天性中性粒细胞减少症1例
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Abstract:
重症先天性中性粒细胞减少症(SCN)是一种罕见的血液病，与ELANE基因突变有关。SCN的特征主要是严重的中性粒细胞减少合并反复感染，一些SCN患者还可能有口腔表现。我们报告了一名30岁的女性，患有复发性口腔溃疡和严重的慢性牙周炎。全外显子组测序分析显示，她是ELANE上的一种新型错义突变(c.377C > T (p. Ser126Leu))。尽管患者的中性粒细胞绝对值常年浮动于0.2 × 109/L上下，但患者18岁后鲜有发生重度感染，因此患者拒绝G-CSF治疗，要求门诊长期随访。本研究针对该病例进行总结分析，旨在提高临床医师对以牙周病变为主要临床表现的重度先天性中性粒细胞减少症的认识。
Severe Congenital Neutropenia (SCN) is a rare hematologic disorder associated with mutations in the ELANE gene. SCN is characterized by severe neutropenia with recurrent infections, and some patients with SCN may also have oral manifestations. We reported a 30-year-old woman with recurrent mouth ulcers and severe chronic periodontitis. Whole-exome sequencing analysis revealed that it was a novel missense mutation on ELANE (c.377C > T (p. Ser126Leu)). Although the patient’s absolute neutrophil value fluctuated around 0.2 × 109/L all year round, the patient rarely developed severe infection after the age of 18 years, so the patient refused G-CSF treatment and asked for long-term outpatient follow-up. This study summarized and analyzed this case with the aim of improving clinicians’ understanding of severe congenital neutropenia with periodontal lesions as the main clinical manifestation.
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