Esenboga Saliha, Çagdas Ayvaz Deniz, Saglam Ayhan Arzu, Peynircioglu Banu, Sanal Ozden, Tezcan Ilhan
Division of Immunology, Department of Pediatrics, Hacettepe University Faculty of Medicine, 06100 Ankara, Turkey.
Department of Pathology, Hacettepe University Faculty of Medicine, 06100 Ankara, Turkey.
Case Reports Immunol. 2015;2015:879179. doi: 10.1155/2015/879179. Epub 2015 Aug 4.
Common variable immunodeficiency (CVID) is a frequent primary immune deficiency (PID), which consists of a heterogeneous group of disorders and can present with recurrent infections, chronic diarrhea, autoimmunity, chronic pulmonary and gastrointestinal diseases, and malignancy. Secondary amyloidosis is an uncommon complication of CVID. We report an unusual case of a 27-year-old male patient who presented with recurrent sinopulmonary infections, chronic diarrhea, and hypogammaglobulinemia and was diagnosed with CVID. The patient was treated with intravenous immunoglobulin (IVIg) therapy once every 21 days and daily trimethoprim-sulfamethoxazole for prophylaxis. Two years after initial diagnosis, the patient was found to have progressive decline in IgG levels (as low as 200-300 mg/dL) despite regular Ig infusions. The laboratory tests revealed massive proteinuria and his kidney biopsy showed accumulation of AA type amyloid. We believe that the delay in the diagnosis of CVID and initiation of Ig replacement therapy caused chronic inflammation due to recurrent infections in our patient and this led to an uncommon and life-threatening complication, amyloidosis. Patients with CVID require regular follow-up for the control of infections and assessment of adequacy of Ig replacement therapy. Amyloidosis should be kept in the differential diagnosis when managing patients with CVID.
普通可变型免疫缺陷(CVID)是一种常见的原发性免疫缺陷(PID),它由一组异质性疾病组成,可表现为反复感染、慢性腹泻、自身免疫、慢性肺部和胃肠道疾病以及恶性肿瘤。继发性淀粉样变性是CVID的一种罕见并发症。我们报告了一例不寻常的病例,一名27岁男性患者,表现为反复的鼻窦肺部感染、慢性腹泻和低丙种球蛋白血症,被诊断为CVID。该患者每21天接受一次静脉注射免疫球蛋白(IVIg)治疗,并每天服用甲氧苄啶-磺胺甲恶唑进行预防。初始诊断两年后,尽管定期输注免疫球蛋白,该患者的IgG水平仍呈进行性下降(低至200 - 300mg/dL)。实验室检查显示大量蛋白尿,其肾脏活检显示有AA型淀粉样蛋白沉积。我们认为,CVID诊断延迟和Ig替代治疗的启动导致患者因反复感染而出现慢性炎症,进而导致了一种罕见且危及生命的并发症——淀粉样变性。CVID患者需要定期随访以控制感染并评估Ig替代治疗的充分性。在管理CVID患者时,应将淀粉样变性纳入鉴别诊断。