Visceral leishmaniasis and other severe infections in an adult patient with p47-phox-deficient chronic granulomatous disease
Visceral leishmaniasis and other severe infections in an adult patient with p47-phox-deficient chronic granulomatous disease
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DOI：
10.1007/s150100050074
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发表时间：
2000-05-01
期刊：
影响因子：
7.5
通讯作者：
Arribas, JM
中科院分区：
文献类型：
--
作者：
Asensi, V;Tricas, L;Arribas, JM
我们报告了一个罕见的病例，一名没有已知免疫缺陷的男性患者在 30 岁的时候连续被诊断出患有内脏利什曼病、脑脓肿和空洞性肺炎。慢性肉芽肿病（CGD）通过硝基蓝四唑试验诊断。通过免疫印迹怀疑白细胞NADPH氧化酶的p47-phox突变，并通过DNA分析证实。该患者的这种突变是纯合子，而他的母亲和妹妹是杂合子无症状携带者。 CGD诊断后，患者开始长期预防性治疗，皮下注射干扰素-γ（体表0.05 mg/m(2)/每周3次），口服甲氧苄啶-磺胺甲恶唑和伊曲康唑（均为5 mg/kg/天），随访12个月后没有出现后续感染。
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/m(2) 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.