Asensi V, Tricas L, Meana A, Roos D, Carton J A, Maradona J A, Fresno M F, Valle E, Fierer J, Arribas J M
Infectious Diseases Unit, Hospital Central de Asturias, Oviedo University Medical School, Spain.
Infection. 2000 May-Jun;28(3):171-4. doi: 10.1007/s150100050074.
We report a rare case of a male patient without known immunodeficiency consecutively diagnosed with visceral leishmaniasis, brain abscess and cavitating pneumonia in the 3rd decade of life. Chronic granulomatous disease (CGD) was diagnosed by a nitroblue tetrazolium test. A p47-phox mutation of the NADPH oxidase of the leukocytes was suspected by immunoblotting and confirmed by DNA analysis. The patient was homozygous for this mutation while his mother and sister were heterozygous asymptomatic carriers. After the CGD diagnosis the patient started a chronic prophylactic regimen with subcutaneous interferon-gamma (0.05 mg/m2 of body surface/three times a week), and oral trimethoprim-sulfamethoxazole and itraconazole (both at 5 mg/kg/day) with no subsequent infections after 12 months of follow-up.
我们报告了一例罕见病例，一名无已知免疫缺陷的男性患者在30岁时先后被诊断为内脏利什曼病、脑脓肿和空洞性肺炎。通过硝基蓝四氮唑试验诊断为慢性肉芽肿病（CGD）。通过免疫印迹怀疑白细胞NADPH氧化酶的p47-phox突变，并通过DNA分析得到证实。该患者为此突变的纯合子，而他的母亲和姐姐是杂合子无症状携带者。CGD诊断后，患者开始了慢性预防方案，皮下注射干扰素-γ（0.05mg/m²体表面积/每周三次），口服甲氧苄啶-磺胺甲恶唑和伊曲康唑（均为5mg/kg/天），随访12个月后无后续感染。
