非血缘脐带血移植治疗白细胞黏附分子缺陷1型1例随访4年报告

doi:10.12372/jcp.2022.21e0551

Abstract

Abstract:

Leukocyte adhesion deficiency type-1 (LAD-1) is a primary immunodeficiency disease. It is caused by mutations in the ITGB2 gene that cause damage to leukocyte adhesion. It is characterized by recurrent infections, delayed detachment of the umbilical cord, impaired wound healing and leukocytosis. It can be cured by allogeneic hematopoietic stem cell transplantation. The patient was a boy. He started to have recurrent fever, pneumonia and enteritis at 1 month old. He was diagnosed as LAD-1 based on markedly elevated leukocyte counts and ITGB2 gene homozygous mutation. He was cured after undergoing cord blood transplantation at 6.5 months old. Umbilical cord blood stem cell transplantation is a safe and effective method to cure LAD-1.

Key words: leukocyte adhesion deficiency, hematopoietic stem cell transplantation, cord blood, child

CHEN Jiao, LIU Zhouyang, FAN Shifen, JIANG Fan, JIANG Zhixin, SUN Yuan. Cord blood transplantation in leukocyte adhesion deficiency type-1: a case report with 4 years follow-up[J].Journal of Clinical Pediatrics, 2022, 40(7): 545-549.

Figures/Tables 2

时间	事件
入院前3个月	以发热起病,伴吐奶、纳差,白细胞70×10⁹/L,CRP 120 mg/L,CMV-IgM阳性,予美罗培南、万古霉素、丙种球蛋白及抗病毒等治疗
入院前2个月	转氨酶升高,心电图异常,腹部超声示脐疝,予阿糖腺苷、双环醇及复方甘草酸苷、二丁酰环磷腺苷钙等治疗
入院前1.5个月	发热伴咳嗽,CT示肺炎,呼吸道合胞病毒阳性,先后予头孢吡肟、更昔洛韦、奥司他韦、红霉素等治疗
入院前1个月	发热伴纳差、黏液血便,并出现肝脾大、贫血及血小板减少,抗人球蛋白实验阳性,大便培养示热带念珠菌,行骨穿诊断EVANS综合征,予甲基泼尼松龙及丙种球蛋白治疗后血红蛋白及血小板恢复正常,先后予美罗培南、拉氧头孢、头孢克洛、氟康唑抗感染后发热及腹泻好转
入院时	发热伴腹泻、纳差、嗜睡、尿少,诊断先天性免疫缺陷?脓毒性休克、消化道感染、重度脱水、低钾血症、低白蛋白血症、营养不良、轻度贫血、脐疝。予扩容、补液、静脉营养、白蛋白等支持治疗及美罗培南、氟康唑、丙种球蛋白等抗感染后好转
入院后14天	发热、咳嗽,CT示肺炎,予美罗培南、利奈唑胺及米卡芬净后好转
入院后18天	基因检测结果ITGB2基因纯合突变,结合其临床表现,LAD-1诊断明确。行HLA配型检查及造血干细胞移植准备
入院后2月	入移植仓行HLA 7/10相合非血缘脐带血造血干细胞移植
移植后+12天	粒细胞植入
移植后+15天	出现CMV血症,予更昔洛韦及丙种球蛋白治疗,并减量免疫抑制剂后于移植后+40天血浆CMV转阴
移植后+30天	血小板植入,外周血完全供者嵌合
移植后+46天	出现Ⅳ度aGVHD,肠道及肝脏受累,改环孢素为他克莫司,予CD25单抗5次,硫唑嘌呤、间充质细胞等治疗后好转
移植后+4个月	肺部感染,予头孢哌酮/舒巴坦及利奈唑胺治疗后好转;皮肤局限性aGVHD,加用甲氨蝶呤治疗后好转
移植后+13个月	细菌性肠炎,予头孢哌酮/舒巴坦治疗后好转
移植后+19个月	轮状病毒肠炎,对症支持治疗后好转
移植后+4年3个月	末次电话随访,无不适,身高103 cm,体质量13 kg,血常规正常

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Cord blood transplantation in leukocyte adhesion deficiency type-1: a case report with 4 years follow-up

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