선천성 면역 결핍질환의 임상적 고찰
Clinical Features of Primary Immunodeficiency Diseases
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목 적 : 선천성 면역결핍질환은 드물지만 반복되는 감염의 병력이 있는 소아에서 반드시 고려되어야 하는 질환이다. 면역학과 분자생물학의 발달로 선천성 면역결핍질환에 대한 이해와 진단 예가 늘어나고 치료 역시 여러 방면으로 시도되고 있으나 국내의 연구와 보고가 많지 않은 실정이다. 따라서 선천성 면역결핍질환으로 진단받은 환자들의 임상적 특징을 조사하여 향후 진단과 치료에 도움이 되고자 하였다. 방 법 : 1990년 1월부터 2007년 12월까지 부산대학교병원 소아과에서 선천성 면역 결핍질환으로 진단된 25명을 대상으로 진단, 임상 양상, 치료 등에 관하여 병록지를 고찰하여 후향적으로 분석하였다. 결 과 : 남아가 20명, 여아가 5명이었고 증상 발현 시의 연령은 진단된 면역 질환에 따라 차이가 있었지만 3세 이하가 15명(60%)이었다. 만성 기침을 주소로 내원한 경우가 많았으며 12명(48%)이 기관지염 및 폐렴에 이환되어 있었다. 체액 면역 기능 검사, 세포 면역 검사, 식세포계 검사, 보체계 검사를 통해 진단된 면역 결핍증 중 선택적 IgA 결핍증이 11명(44%)으로 가장 많았고 범저감마글로불린혈증이 3명(12%), 분류 불능형 면역 부전증, DiGeorge 증후군, 만성 육아종 질환이 각각 2명(8%)이었으며 IgG 아군 결핍증, 고 IgE 증후군이 1명씩 있었다. 치료는 범저감마글로불린혈증의 경우에는 면역 글로불린 치료를 하고 있으며 만성 육아종 질환 환자는 인터페론 감마를 투여 중이다. 전반적으로 상기도 감염, 기관지염, 폐렴, 장염, 요로 감염 등의 잦은 감염이 관찰되었다. 결 론 : 선천성 면역 결핍질환은 소아기에 잦은 감염을 일으키며 이로 인해 성장 및 발달 지연과 심한 경우 사망을 야기할 수 있다. 그러나 조기 진단으로 적절한 치료와 감염을 예방함으로써 정상적인 생활이 가능하므로 임상의는 반복되는 감염의 병력이 있는 소아에서 반드시 선천성 면역 결핍질환은 고려하여야 한다.
Abstract
Purpose : Primary immunodeficiency diseases are rare, innate defects of the immune system. Prompt diagnosis can lead to life-saving treatment and improvement in quality of life. We described the clinical features of primary immunodeficiency diseases which had been diagnosed in our institution during for 18 years. Methods : Twenty-five patients diagnosed with primary immunodeficiency diseases were analyes in terms of their ages at diagnosis, presenting characteristics, types of primary immunodeficiency diseases and clinical courses. We retrospectively reviewed their medical records between 1990 and 2007 in Busan National University, Busan, Korea. Results : Twenty males and 5 females were studied. Ages at diagnosis were variable, but 15 patiens (60%) were ages ＜3 years. The most common symptom was chronic coughing, and 12 patients were initially diagnosed as having bronchitis or pneumonia. Most patients had a past history of recurrent bronchitis, pneumonia or upper respiratory infections. Selective IgA deficiency was found in 11 cases (44%), panhypogammaglobulinemia in 3 cases (12%) and common variable immunodeficiency diseases such as DiGeorge syndrome and chronic granulomatous disease in 2 cases (8%), respectively. IgG4 deficiency and hyper IgE syndrome were found in 1 case, respectively. All patients with panhypogammaglobulinemia were regularly treated with IVIG, 1 patient chronic granulomatous disease was regularly treated with IFN-γ. In many cases, upper respiratory infections, bronchitis, pneumonia, acute gastroenteritis, urinary tract infection were recurrent. Conclusions : Primary immunodeficiency diseases should be considered in children with recurrent or severe infections, because early diagnosis and treatment can reduce mortality and morbidity.
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