X-连锁无丙种球蛋白血症BTK基因突变1例并文献复习

摘要

目的：探讨X-连锁无丙种球蛋白血症（X-linked agammaglobulinemia，XLA）BTK基因突变临床及实验室特点，梳理诊断思路和治疗方法以提高临床医师对XLA的认识。方法回顾性分析1例X-连锁无丙种球蛋白血症BTK基因突变患者的临床特征、实验室检查、基因测序及诊治经过，复习相关文献并分析。结果6岁男性患儿表现为自出生反复呼吸道感染、肺炎、免疫球蛋白减少或缺如，对症治疗加免疫球蛋白静点有效。BTK基因杂合突变：[c.83G>A, p.28R>H]，父母热点基因突变验证显示母亲为杂合携带者，父亲不存在相应位点突变。结论本研究患儿XLA是BTK基因杂合突变，丙种球蛋白缺陷所致；在临床表现基础上通过BTK基因分析有助于XLA患儿的进一步明确诊断，且有利于发现携带者和进行遗传咨询。%ObjectiveTo discuss X-linked agammaglobulinemia (XLA) withBTK heterozygosis mutations clinical and laboratory characteristics and explore new diagnostic and therapeutic methods, in order to improve the understanding of XLA among clinical physicians.MethodThe clinical material of one XLA case withBTK mutations were analyzed and related literature were reviewed.Result A 6-year-old boy presented with recurrent infection, pneumonia and lower immunoglobulin. After genetic analyses, the heterozygosis mutations [c.83G>A, p.28R>H] in theBTK gene was found. The result of parent’s gene detection proved that her father don’t have corresponding locus mutation but her mother is a carrier.ConclusionThis case of XLA is a severe immunodeficiency due toBTK mutation. Based on the clinical manifestations, XLA patients can be diagnosed by further genetic analysis ofBTK. It is good to findBTK gene carriers and do some genetic consultation.