Espinosa-Morales R, Escalante A
Department of Medicine, University of Texas Health Science Center at San Antonio, 78284-7868, USA.
J Rheumatol. 1998 Dec;25(12):2459-63.
We describe a patient with hemochromatosis and coexistent infection with the hepatitis C virus who was initially thought to have rheumatoid arthritis. His symptoms began at the age of 44 with pain of the hand joints, shoulders, hips, and knees and a positive rheumatoid factor. Four years later, he required replacement of both hips due to severe hip arthritis. Abnormalities in liver function were noted early on, but they were attributed to infection with the hepatitis C virus, detected serologically and by polymerase chain reaction amplification in the blood. The correct diagnosis was delayed until a decision to use methotrexate as treatment for his arthritis led to a liver biopsy, which revealed increased iron deposition consistent with hemochromatosis, confirmed by genetic testing, which revealed that the patient was homozygous for the C282Y mutation of the HLA-H gene.
我们描述了一名患有血色素沉着症且合并丙型肝炎病毒感染的患者，该患者最初被认为患有类风湿关节炎。他的症状始于44岁，表现为手部关节、肩部、臀部和膝盖疼痛，类风湿因子呈阳性。四年后，由于严重的髋关节炎，他需要进行双侧髋关节置换。早期就发现了肝功能异常，但这些异常被归因于丙型肝炎病毒感染，通过血清学检测和血液中的聚合酶链反应扩增检测到该病毒。正确的诊断被推迟，直到决定使用甲氨蝶呤治疗他的关节炎时进行了肝脏活检，活检显示铁沉积增加，符合血色素沉着症，基因检测证实了这一点，该检测显示患者的HLA - H基因C282Y突变呈纯合子状态。
