血色病的临床分析与病理特点

Clinical and pathological characteristics with Hemochromatosis

为提高对我国血色病的临床特点的认识 ,回顾我院 6例血色病患者的临床表现 ,重新评价肝穿刺病理学特点。并结合国内的报告 ,总结国人的血色病的临床特点。 6例患者均为男性 ,确诊时平均年龄 36 8岁 ,最常见临床表现为肝大 (5 6 ) ,继发性血色病均有心脏扩大 (3 3) ,4例患者转铁蛋白饱和度升高 ,铁沉积以肝细胞内为主者原发性和继发血色病各 2例。继发血色病患者的肝纤维化和肝硬化更显著。研究表明原因不明的肝大和铁生化指标升高时应考虑到血色病 ,并及时肝活检确诊。继发于贫血的血色病发生器官衰竭较早。

To review the characteristics of hemochromatosis (HC) in Chinese, the clinical featares were retrospectively analyzed with six cases of PUMC Hospital and a review of the literatures in China All cases were male with mean age of 36 8 yrs Hepatomegaly was common (5/6) Cardiomegaly was observed in all of the three cases of secondary hemochromatosis (SHC) Transferrin saturation was evaluated in four cases Preferential periportal hepatocellular iron deposition was observed in two cases of hereditary HC (HHC) and two cases of SHC respectively Hepatic fibrosis or cirrhosis was more severe in patients with SHC HC is a rare disease in China and a potential diagnosis is made in patients with hepatomegaly or abnormal serum markers of iron stores Liver biopsy is valuable for diagnosis Early diagnosis and management by sufficient removal of excess iron are important for the prognosis