Department of Respiratory, Anhui Provincial Children's Hospital Affiliated to Anhui Medical University, Hefei, China.
Department of Respiratory, Anhui Provincial Children's Hospital, Hefei, China.
Medicine (Baltimore). 2022 Nov 4;101(44):e31357. doi: 10.1097/MD.0000000000031357.
The Severe congenital neutropenia (SCN) is a rare genetic disease characterized by a deficiency of mature neutrophils in the bone marrow and peripheral blood disorders. After a BALF ACER examination, the patient was found to have a rareMycobacterium abscess infection.
We report a case of SCN withMycobacterium abscess infection caused by ELANE gene mutation. Conventional antiinfection and granulocyte colony-stimulating factor (G-CSF) did not ameliorate patient's symptoms. The absolute neutrophil count (ANC) most of the time < 0.50 × 109/L.
According to Gene sequencing and other tests, the patient was diagnosed with SCN caused by ELANE gene mutation, severe pneumonia, Mycobacteriosis abscess, nutritional iron deficiency anemia, multiple abscesses of the skin, hypergammaglobuloemia, and thrush.
Anti-infection agents, abscess incision and drainage, blood transfusion, G-CSF were treated.
The fever subsided, the cough disappeared, the anemia improved, and the ANC improved (0.69 × 109/L). Currently, the patient has been followed up in the outpatient clinic for 20months, during which time fever, bone pain, gingivitis and thrush occasionally appeared. The ANC fluctuated between 0.20 and 1.27 × 109/L, suggesting the need for a timely hematopoietic stem cell transplant (HSCT).
ELANE gene-related SCN is rare in children, and the possibility of this disease should be considered in children with recurrent severe bacterial infections and a significant reduction in neutrophils in the peripheral blood shortly after birth. In addition to strengthening nursing care and actively preventing and controlling infection, other rare bacterial infections should be considered in clinical practice.
严重先天性中性粒细胞减少症（SCN）是一种罕见的遗传性疾病，其特征为骨髓和外周血中成熟中性粒细胞缺乏和功能紊乱。在 BALF ACER 检查后，发现该患者患有罕见的脓肿分枝杆菌感染。
我们报告了一例 SCN 合并由 ELANE 基因突变引起的脓肿分枝杆菌感染。常规抗感染和粒细胞集落刺激因子（G-CSF）治疗未能改善患者症状。患者的中性粒细胞绝对计数（ANC）大部分时间<0.50×109/L。
根据基因测序等检查，患者被诊断为 ELANE 基因突变导致的 SCN、重症肺炎、脓肿分枝杆菌病、营养性缺铁性贫血、皮肤多发性脓肿、高丙种球蛋白血症、鹅口疮。
给予抗感染药物、脓肿切开引流、输血、G-CSF 等治疗。
患者发热消退，咳嗽消失，贫血改善，ANC 升高（0.69×109/L）。目前，患者在门诊接受随访 20 个月，期间偶尔出现发热、骨痛、牙龈炎和鹅口疮。ANC 在 0.20 至 1.27×109/L 之间波动，提示需要及时进行造血干细胞移植（HSCT）。
ELANE 基因突变相关的 SCN 在儿童中较为罕见，对于出生后短期内反复发生严重细菌感染且外周血中性粒细胞明显减少的儿童，应考虑到该病的可能。除了加强护理和积极预防控制感染外，在临床实践中还应考虑其他罕见细菌感染的可能性。
