X-连锁无丙种球蛋白血症3例报告并文献复习.pdf

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1、·690·临床儿科杂志第32卷第7期2014年7月JClinPediatrVoL32No．7Ju1．2014doi：10．3969／j．issn．1000-3606．2014．07．023X一连锁无丙种球蛋白血症3例报告并文献复习李小琳付四毛刘玉玲张莉林国模潘晓芬南方医科大学附属中山市博爱医院儿科(广东中山528400)摘要：目的分析x一连锁无丙种球蛋白血症(XLA)的临床表现、诊断和治疗特点。方法回顾性分析3例XLA患儿的临床特点、细胞免疫、体液免疫指标及治疗和预后结果3例XLA患儿的发病年龄自11个月至6岁

2、，中位诊断年龄为12岁。患儿均表现为多发反复细菌感染；关节炎症累及膝、踝、肘和髋等大关节。实验室检查提示血清免疫球蛋白水平及循环B细胞明显降低。3例患儿均发现存在BTK基因突变，分别为外显子3的移码突变及无义突变，外显子1O的移码突变，以及外显子18的错义突变。确诊为xLA后予静脉滴注丙种球蛋白(IVIG)替代治疗；合并关节炎加用非甾体类抗炎药物(NSAIDs)，酌情加用小剂量激素，病情得到明显改善。结论XLA临床表现具有较大的变异性，反复不同部位的细菌感染，扁桃体、淋巴结发育不良及血清免疫球蛋白水平低下是早期

3、诊断XLA的重要环节；XLA合并关节炎使用IVIG和NSAIDs联合治疗，谨慎使用激素或免疫抑制剂。关键词：x一连锁无丙种球蛋白血症；关节炎；低丙种球蛋白血症；原发性免疫缺陷；免疫球蛋白ThreecasesreportandliteraturereviewofX-LinkedagammaglobulinemiaLIXiaolin．FUSimao,LIUYuling,ZHANGLLLINGuomo,PANXiaofen(Departmentofpediatrics,ZhongsanBoaiHospitalAfil

4、iatedSouthernMedicalUniversity,Zhong-shan52840~Guangdong,China)Abstract：0bjectiveToanalyzetheclinicalfeatures，diagnosisandtreatmentofX—LinkedAgarnmaglobulinemia(XLA)．MethodsClinicalfeatures，cellularandhumoralimmunefunctions，treatmentandprognosisfrom3patients

5、withXLAwereretrospectivelyreviewed．ResultsTheageofonsetwerefrom11monthsto6yearsinthese3cases，however,themedianageofdiagnosiswas12years．Allpatientsshowedmultiplerecurrentbacterialinfections，arthritisinvolvedlargejointssuchasknee，ankle，elbowandhip．Laboratoryex

6、aminationrevealedthedecreaseofselxullgatlmunaglohulinandabsenceofBlymphocytesintheperipheralblood．All3patientswereidentifiedBTKmutations，whichwereframeshiflmutationandnonsensemutationinexon3，frameshiRmutationinexon10，missensemutationinexon18．AfterXLAwasdiagn

7、osed，thepatientsweremanagedbyintravenousgammagloulin(IVIG)replacement．Thenon—steroidalanti—inflammatorydrugs(NSAIDs)wereadministratedinpatientscombinedarthritis．Thesmalldoseofhormoneshadbeenapplied．Allpatientshadasignificantlyimprovement．ConclusionsTheclinic

8、alfeaturesofXLAhavegreatervariability,withrecurrentbacterialinfections．Markedlydecreasedandabsenttosilsandlymphnodes，serumimmunoglobulinmaybeoneofthewarningsignsforearlydiagnosisofXLA．IVIGandNSA