X-linked Chronic Granulomatous Disease: Report of One Case

性聯遺傳的慢性肉芽腫：一病例報告

翁至德(Jyh-Der Weng) ； 徐世達(Shyh-Dar Shyur)

《Acta Paediatrica Taiwanica》 45卷3期 (2004/06) Pp. 163-167

https://doi.org/10.7097/APT.200406.0163

摘要

慢性肉芽腫是一種罕見免疫缺陷的遺傳疾病。主要是因爲身體內吞噬細胞的氧化代謝有缺失，以致於無法殺死一些已經吞噬於細胞的細菌。因此，反覆性細菌和真菌感染造成組織膿腫、淋巴腺炎、和肉芽腫。我們報導一名一歲十個月大的男童因反覆性淋巴腺炎、生長遲緩、和全身皮膚受感染後的結疤與凹陷。然而，實驗數據和病理檢查均證實爲慢性肉芽腫。同時對其父母做免疫學檢查。

關鍵字

慢性肉芽腫 ； 淋巴腺炎 ； 免疫缺陷

並列摘要

Chronic granulomatous disease (CGD) is an inherited dysfunction of phagocytic cells secondary to a defect in the respiratory burst to kill catalase-positive microorganisms. This leads to recurrent life- threatening bacterial and fungal infections. We report a 1 year-10 month-old boy with X-linked CGD who was noted to have recurrent suppurative lymphadenitis since one and half month old. Failure to thrive, lymphadenitis and generalized skin lesions with multiple scar and dimples were found. Immunological data of patient, his mother and father were as follows: PMNphagocytosis (%): 98, 88, 92 (control, ＞80), PMN chemotaxis: 0.6, 1.0, 1.3 (control, ＞1.2), PMN bactericidal function test over a period of 2 hours (%): 28.1, 28.5, 84.8 (control, 82.1). PMN chemiluminescence (∆mV): 0.612, 364.1, 1131 (control, 614.1), H202 production (ug/mL): 1.6, 7.2, 16.8 (control, 14.1), NBT test: negative, mixed, positive (control, positive). His mother was a carrier. The patient expired with invasive salmonella infection before the availability of γ-interferon prophylaxis.

並列關鍵字

chronic granulomatous disease ； lymphadenitis ； immunodeficiency