背景:严重的先天性中性粒细胞减少症(SCN)是一种罕见的遗传性疾病,其特征是骨髓和外周血中成熟的中性粒细胞缺乏。BALFACER检查后,该患者被发现患有罕见的分枝杆菌脓肿感染。
方法:我们报告一例由ELANE基因突变引起的脓肿分枝杆菌感染的SCN。常规抗感染和粒细胞集落刺激因子(G-CSF)不能改善患者的症状。中性粒细胞绝对计数(ANC)大部分时间<0.50×109/L。
方法:根据基因测序和其他测试,患者被诊断为由ELANE基因突变引起的SCN,重症肺炎,分枝杆菌病脓肿,营养性缺铁性贫血,皮肤多个脓肿,高血友病,还有画眉.
方法:抗感染药,脓肿切开引流,输血,治疗G-CSF。
结果:发烧消退,咳嗽消失了,贫血得到改善,ANC有所改善(0.69×109/L)。目前,患者在门诊接受了20个月的随访,在此期间发烧,骨痛,偶尔出现牙龈炎和鹅口疮。ANC在0.20和1.27×109/L之间波动,提示需要及时进行造血干细胞移植(HSCT)。
结论:ELANE基因相关的SCN在儿童中很少见,并且这种疾病的可能性应考虑到反复出现严重细菌感染和出生后不久外周血中性粒细胞显着减少的儿童。除了加强护理,积极预防和控制感染,在临床实践中应考虑其他罕见的细菌感染。
BACKGROUND: 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.
METHODS: 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.
METHODS: 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.
METHODS: Anti-infection agents, abscess incision and drainage, blood transfusion, G-CSF were treated.
RESULTS: 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).
CONCLUSIONS: 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.