CAJ | 학술논문

目的报道白细胞黏附缺陷病Ⅰ型患儿的临床表现及基因突变特点,提高对疾病的认识.方法对经ITGB2基因突变分析明确诊断的l例白细胞黏附缺陷病Ⅰ型患儿的临床资料进行回顾性总结、分析.结果患儿男,2个月,主因“间断发热、轻咳30 d”入院,肺CT提示右侧少～中等量胸腔积液,多次查外周血白细胞及CRP明显高于正常,入院后出现腹泻病,便常规示白细胞30/HP,红细胞2/HP,便培养阴性,消化道彩超示乙状结肠及直肠多发不规则黏膜缺损区,肠壁旁多发不规则低回声渗出粘连,不除外溃疡性结肠炎.予万古霉素和头孢哌酮舒巴坦联合抗感染治疗,好转出院.患儿新生儿期脓疱疮病史,无脐带脱落延迟,家族史无特殊.ITGB2基因突变分析结果:纯合突变(1062A＞ T).出院后随访1个月,患儿体温正常,但仍时有腹泻病.结论患儿起病年龄早,先后患脓疱疮、胸腔积液、腹泻病,多次外周血白细胞明显高于正常,ITGB2基因纯合突变(1062A＞ T),确诊白细胞黏附缺陷病Ⅰ型.
목적 보도백세포점부결함병Ⅰ형환인적림상표현급기인돌변특점,제고대질병적인식.방법 대경ITGB2기인돌변분석명학진단적l례백세포점부결함병Ⅰ형환인적림상자료진행회고성총결、분석.결과 환인남,2개월,주인“간단발열、경해30 d”입원,폐CT제시우측소～중등량흉강적액,다차사외주혈백세포급CRP명현고우정상,입원후출현복사병,편상규시백세포30/HP,홍세포2/HP,편배양음성,소화도채초시을상결장급직장다발불규칙점막결손구,장벽방다발불규칙저회성삼출점련,불제외궤양성결장염.여만고매소화두포고동서파탄연합항감염치료,호전출원.환인신생인기농포창병사,무제대탈락연지,가족사무특수.ITGB2기인돌변분석결과:순합돌변(1062A＞ T).출원후수방1개월,환인체온정상,단잉시유복사병.결론 환인기병년령조,선후환농포창、흉강적액、복사병,다차외주혈백세포명현고우정상,ITGB2기인순합돌변(1062A＞ T),학진백세포점부결함병Ⅰ형.
Objective Leukocyte adhesion deficiency type 1 (LAD-Ⅰ) is rare.We present 1 case of LAD-Ⅰ patient diagnosed by gene analysis.His clinical manifestations and genetic mutation features are analyzed in this article.Method The clinical material of the LAD-Ⅰ patient who was diagnosed by gene analysis was retrospectively analyzed.Result The patient was a 2-month-old boy.He had a complaint of recurrent fever and cough for 30 days.Pulmonary CT indicated a small to moderate quantity pleural effusion on the right side.His peripheral blood leukocyte and C-reactive protein(CRP) was always significantly higher than normal.After hospitalization he had diarrheal diseases,routine stool test showed 2 RBC cells/high power (HP),WBC 30 cells/HP,stool cultures were negative,digestive tract ultrasonography showed an array of defects,in the sigmoid colon and rectal mucosa suggestive of ulcerative colitis.He was treated with cefoperazone and sulbactam and vancomycin.He had a history of impetigo in his neonatal period and without delayed umbilical cord exfoliation.His family history was normal.ITGB2 genetic mutation analysis revealed a homozygous mutation (1062A ＞ T).His parents did not participate in this study.He had no fever but had diarrheal disease after 1 month of follow up.Conclusion This patient had suffered from impetigo,pleural effusion,diarrheal diseases,markedly increased peripheral white blood cell and ITGB2 genetic mutation analysis showed that homozygous mutation (1062A ＞ T).He received a diagnosis of LAD-Ⅰ.