儿童重症监护病房中原发性免疫缺陷病回顾性研究

Retrospective analysis of primary immunodeficiency diseases in PICU

目的 回顾性研究单中心儿童重症监护病房（PICU）中儿童原发性免疫缺陷病（PID）的发病情况和临床特点.方法 分析2000年1月至2012年4月北京儿童医院PICU中PID患儿的临床特点.结果 原发性低丙种球蛋白血症明确1例,高度怀疑4例;起病年龄1～132个月,平均36.4个月;入院主诉为发热伴上呼吸道症状为主;感染性疾病为脓毒血症4例（1例铜绿假单胞菌）,肺炎4例（非主要表现）,双侧化脓性中耳炎1例（铜绿假单胞菌）,慢性腹泻病伴重度营养不良1例.高IgM综合征明确4例,其中1例为基因诊断,高度怀疑2例;起病年龄4～60个月,平均18.4个月;诊断年龄4～186个月,平均62个月;入院主诉主要为咳嗽伴发热和腹泻;感染性疾病肺炎6例,1例重症肺炎伴急性呼吸窘迫综合征（ARDS）,1例间质性肺炎伴呼吸衰竭.严重联合免疫缺陷病（SCID）明确9例,1例明确基因诊断为X-SCID;起病年龄2～7个月,平均4.1个月;入院主诉主要为咳嗽伴发热,其他为腹泻、肝脾大、面色黄;感染性疾病脓毒症6例（1例肝脓肿,1例怀疑肝脓肿）,肺炎6例（1例伴ARDS,1例伴呼吸衰竭）,腹泻2例（1例伴重度营养不良）,中度营养不良1例.慢性肉芽肿病高度怀疑2例;平均起病年龄1个月;入院主诉发热、咳嗽、腹泻;感染性疾病为败血症2例,肺炎2例,感染性休克1例,多脏器衰竭1例.最近5年的检出率明显高于既往7年的检出率（20/2）.结论 随着认识水平提高,PICU中PID的检出率明显提高.对重症感染患儿,需注意基础疾病PID的可能,针对原发病进行合理治疗可能会提高治愈率.

Objective To retrospectively investigate the prevalence of primary immunodeficiency diseases in single cen-ter of PICU and associated clinical features. Method The clinical records of PID cases were reviewed in PICU of Bei-jing Children＇ s Hospital. Result Primary agammaglobulinemia （ definite 1, highly suspected 4）, mean onset age was 36.4 months（ range, 1 - 132 months）, chief complains mainly included fever with upper respiratory tract symptoms, infections included sepsis 4（ 1 speudomonas aeruginosa） ,pneumonia 4（ non main feature） , bilateral pyogenic medium otitis 1 （speudomonas aeruginosa） ,chronic diarrhea complicated with severe malnutrition 1. Hyper-IgM syndrome（ defi-nite 4 ,highly suspected 2 ）, mean onset age was 18.4 months （range, 4 -60 months）, mean diagnosis age was 62 months（ range ,4-186 months）, chief complains mainly included cough with fever and diarrhea, infections included pneumonia 4（ I with ARDS caused by PCP, 1 interstitial pneumonia with respiratory failure）. Severe combined immu- nodeficiency（ definite 9 ）, mean onset age was 4. 1 months （ range, 2 ~ 7 months ）, chief complains mainly included cough with fever,infections included pneumonia 6 （ 1 with ARDS, 1 with respiratory failure）. Chronic granulomatous disease （highly suspected 2）, mean onset age 1 month, chief complains included fever/diarrhea/cough, infections in-eluded sepsis 2, pneumonia 2,infectious shock 1, MOF 1. Conclusion With increased knowledge about PID, the num-ber of PID cases in late five years was far more than that in past seven years. When we treat severe infectious children, we should think about the underlying disease such as PID. Targeted treatment may improve the cure rate.