先天性丙球蛋白缺少症之一例

Congenital Agammaglobulinemia Report of a Case

陳秋江(Chiou-Chiang Chen) ； 李慶雲(Chin-Yun Lee) ； 李廷堅(Ting-Chien Lee)

《Acta Paediatrica Sinica》 8卷1期 (1967/03) Pp. 34-42

摘要

1952年Bruton首次報告一個8歲男童，自10歲起反覆得化膿菌感染，而其血清中無丙球蛋白，該童4歲時第一次生病得化膿性關節炎，以後4年間共得19次肺炎球菌敗血症，數次中耳炎及兩次肺炎球菌肺炎，每次感染雖能以抗生素抑制一時，卻無法以多價肺炎球菌疫苗防止其再發或使其血清出現免疫休體。又該童接受傷寒疫苗後無抗傷寒免疫體産生；白喉免疫注射後Schick試驗仍爲陽性。後來以丙球蛋白製劑定期注射，此童始不再得細菌感染。顯示此童易得細菌感染與其血清缺少丙球蛋白，及抗原刺戟後不能産生抗體有密切關係。Bruton發表此例後，有關丙球蛋白産生異常之疾病隨丙球蛋白之研究發展，而逐漸明朗。至目前爲止，已知不同類型丙球蛋白缺少症不下10種。因各類型之臨床症狀，病理原因及遺傳特性等不同，有人將之綜稱爲「抗體缺少症候群」(Antibody Deficiency Syndrome)。
本文報告著者等在臺大醫院小兒科所遇之一例先天性丙球蛋白缺少症，並就現今對丙球蛋白及其各型缺少症之臨床及病理觀點涉查文獻綜述於下，以便討論本病例，並供此症診療之參考。

並列摘要

A 4 month-old Chinese male infant with congenital agammaglobulinemia is reported and the clinical and pathological aspects of immunoglobulin deficiency syndrome are briefly reviewed.
The patient was born to consanguinous parents and several of his close relatives died of unknown causes in rearly nfancy. Clinically the patient has suffered from repeated attacks of upper respiratory infections since his second month of life. Laboratory tests disclosed he had marked lymphopenia and deficiency of the all 3 major conponents of gammaglobulins (no detectable gammaglobulins by immunoelec-trophoresis and IgG 60mg%, IgA 0mg%, IgM 0mg% by quantitative immune diffusion). Antibiotics and gammaglobulin administration along with other supportive measures failed to bring forth improvement and subsequntly he died with complications of oral thrush, sprue-like syndrome and hemmorrhagic skin rashes at 6 months of age. It seems reasonable to assume that the baby might be a case of hereditary thymic aplasia.