Saleem Taimur, Rabbani Madiha, Jamil Bushra
Medical College, The Aga Khan University, Stadium Road, Karachi, 74800, Pakistan.
Cases J. 2009 Aug 10;2:6785. doi: 10.4076/1757-1626-2-6785.
Primary immunodeficiency disorders pose a diagnostic dilemma for physicians in the developing countries such as Pakistan because of lack of adequate diagnostic facilities. We present here the case of a 17-year-old girl who had a history of recurrent respiratory tract infections since childhood and had been treated with anti-tuberculous medications thrice; for a total of 24 months. She had also received multiple courses of antibiotics. Her initial presentation to our hospital was with acute bronchopneumonia. Her past medical history of recurrent infections also alerted the treating physician to the possibility of bronchiectasis secondary to a variety of underlying potential pathologies such as post-infection, immunodeficiency syndromes or ciliary dyskinesia disorders. Cystic fibrosis was also an important consideration. Direct enquiry revealed that there was no history of consanguineous marriage in her parents. Her sweat chloride test was within normal range (<40 mmol/L). Blood analysis was performed which showed IgA, IgG2 and IgG4 deficiency. She has been following up at our hospital for the past few years. In that course of time, she has had multiple episodes of pneumonia, gastroenteritis and maxillary sinusitis. She was successfully treated with intravenous immunoglobulins on four occasions when she presented with systemic crisis secondary to severe systemic infection. She also developed biopsy proven intermediate grade non-Hodgkin's lymphoma five years after the diagnosis of immunoglobulin deficiency was first made. This appeared to be a complication of her immunodeficient state. She has been receiving chemotherapy for the lymphoma. Physicians should be cognizant of the morbidity that primary immunodeficiency syndromes such as immunoglobulin deficiency can have in the form of multiple infections and increased risk of malignancies as seen in our patient.
由于缺乏足够的诊断设施，原发性免疫缺陷疾病给巴基斯坦等发展中国家的医生带来了诊断难题。我们在此介绍一名17岁女孩的病例，她自幼就有反复呼吸道感染病史，曾三次接受抗结核药物治疗，总计24个月。她还接受过多个疗程的抗生素治疗。她最初因急性支气管肺炎前来我院就诊。她既往反复感染的病史也使主治医生警惕到继发于多种潜在基础疾病（如感染后、免疫缺陷综合征或纤毛运动障碍疾病）的支气管扩张的可能性。囊性纤维化也是一个重要的考虑因素。直接询问得知她父母无近亲结婚史。她的汗液氯化物试验结果在正常范围内（<40 mmol/L）。进行了血液分析，结果显示IgA、IgG2和IgG4缺乏。在过去几年里她一直在我院随访。在此期间，她多次发生肺炎、肠胃炎和上颌窦炎。当她因严重全身感染继发全身危象时，曾四次成功接受静脉注射免疫球蛋白治疗。在首次诊断免疫球蛋白缺乏症五年后，她还经活检证实患了中度非霍奇金淋巴瘤。这似乎是她免疫缺陷状态的一种并发症。她一直在接受淋巴瘤的化疗。医生应该认识到原发性免疫缺陷综合征（如免疫球蛋白缺乏症）可能导致的发病率，就像我们的患者那样，表现为多次感染和恶性肿瘤风险增加。
