Common Variable Immunodeficiency-A Case Report with Emphasis on the Diagnostic Clues and Treatment Response

常見性變異性免疫缺乏症代表一群變異性高的族群，他們無法製造免疫球蛋白並使原發性抗體失效。它有許多臨床症候，會影響多重器官特別是呼吸系統。常見性變異性免疫缺乏症發生年齡多在30歲上下，但因疾病複雜度，平均被延誤診斷時間長達8.9年。本文報告一24歲年輕女性有遊走性肺炎，脾腫大，和持續性肝指數異常，因實驗室檢查發現球蛋白指數低下，懷疑是常見性變異性免疫缺乏症，並經由IgG、IgM、IgA數目低下確診。此病人的脾腫大，懷疑和常見性變異性免疫缺乏症相關的淋巴增生疾病有關，且再經免疫球蛋白治療之後，脾腫大回復至正常大小。此臨床病例強調當病人有反覆性鼻竇與呼吸道感染，以及對於感染症無法產生相對應抗體，如C型肝炎時，應高度懷疑此病，早期診斷才可避免嚴重的後遺症並改善預後。

關鍵字

常見性變異性免疫缺乏症；遊走性肺炎；脾腫大；靜脈注射型免疫球蛋白

並列摘要

Common variable immunodeficiency (CVID) encompasses a group of heterogeneous conditions linked by a lack of immunoglobulin production and primary antibody failure. CVID has a broad range of clinical symptoms with the involvement of multiple organs, especially the respiratory system. The mean onset of symptoms in patients with CVID is in their 3rd decade of life. Given the complexity and rarity of the disease, the diagnosis of CVID is often delayed for a mean of 8.9 years. We herein report a 24-year-old female patient with CVID manifesting with migratory pneumonia, splenomegaly, and persistently elevated liver enzymes. The disease was suspected due to the presence of hypoglobulinemia, and confirmed by low serum levels of IgG, IgM, and IgA. Her splenomegaly was attributed to CVID-related lymphoproliferative disorder. The spleen regressed to normal size after intravenous immunoglobulin supplementation. This case emphasizes the need for a high index of clinical suspicion for CVID in patients presenting with recurrent sinopulmonary infections and/or an impaired capacity to produce specific antibodies in response to infection, such as chronic hepatitis C. Early diagnosis is needed to prevent significant morbidity and mortality and to improve the prognosis in these patients.

並列關鍵字

common variable immunodeficiency ； hepatitis C ； intravenous immunoglobulin ； migratory pneumonia ； splenomegaly

國際替代計量

Common Variable Immunodeficiency-A Case Report with Emphasis on the Diagnostic Clues and Treatment Response

全文下載

主題瀏覽