Glaser J, Gahr M, munnethal A, Mann O, von Eiff M, Pausch J
Medizinische Klinik I, Städtische Kliniken Kassel.
Dtsch Med Wochenschr. 1995 May 5;120(18):646-8. doi: 10.1055/s-2008-1055391.
A now 43-year-old man was known since childhood to have mesenteric and subcutaneous lymphadenopathy. Histological examination of liver biopsies and excision of some lymph nodes when an adult showed epithelioid granulomas, in places with Langhans giant cells. Diagnostic splenectomy revealed no pathological findings. His present admission to hospital was for an infection with high fever. On auscultation moist rales were audible over the apex of the left lung. The chest radiography showed pneumonic infiltration. Blood culture grew Pseudomonas aeruginosa. Ultrasound demonstrated hypoechogenic homogeneous and smoothly circumscribed round foci in the liver hilus and around the coeliac trunk. The upper lobe pneumonia healed under antibiotic treatment. As chronic granulomatosis was suspected, the nitroblue tetrazolium and superoxide production tests were performed. They demonstrated that the capacity of the granulocytes to form oxygen radicals was markedly diminished. Chronic granulomatosis is an inherited disorder of granulocyte function linked to the X-chromosome. It must be included in the differential diagnosis of any unclear granulomatous disease even in adults.
一名现年43岁的男子自幼即患有肠系膜和皮下淋巴结病。成年后，肝脏活检组织学检查及部分淋巴结切除显示上皮样肉芽肿，部分伴有朗汉斯巨细胞。诊断性脾切除术未发现病理结果。他此次因高热感染入院。听诊时，左肺尖可闻及湿啰音。胸部X线片显示肺部浸润。血培养培养出铜绿假单胞菌。超声显示肝门和腹腔干周围有低回声均匀、边界光滑的圆形病灶。上叶肺炎经抗生素治疗后痊愈。由于怀疑为慢性肉芽肿病，进行了硝基蓝四唑和超氧化物生成试验。结果表明粒细胞形成氧自由基的能力明显降低。慢性肉芽肿病是一种与X染色体相关的遗传性粒细胞功能障碍疾病。即使在成年人中，对于任何不明原因的肉芽肿性疾病，都必须将其纳入鉴别诊断。
