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目的 对 1例以重度贫血为主诉入院的疑难病例进行确诊。方法 根据患儿的症状、体征、特殊检查 (骨髓活检、肝活检、运铁蛋白浓度测定 )患儿父母血液检查结果及文献资料进行分析确诊。结果 患儿以严重贫血、肝脾肿大为主要表现 ,血浆 β球蛋白量为 5 %(正常 7%～ 13%) ,运铁蛋白浓度为 0 0 147g/L(正常 2 5 2～ 4 2 9g/L)。肝活检显示肝内大量含铁血黄素沉着 (肝细胞和枯否细胞 )和轻微纤维化。符合先天性无运铁蛋白血症。患者父亲的运铁蛋白浓度为 1 2 9g/L ,患者母亲的运铁蛋白浓度为 1 4g/L ,仅为正常人的一半。结论 确诊患儿为先天性无运铁蛋白血症 ,此症为常染色体隐性遗传 ,极其少见 ,应提高认识 ,以防漏诊。
Objective To diagnose one of the most difficult cases admitted to hospital with severe anemia. Methods According to the children’s symptoms, signs, special examination (bone marrow biopsy, liver biopsy, determination of transferrin concentration) in children with blood test results and literature to confirm the diagnosis. Results Children with severe anemia, hepatosplenomegaly as the main performance, plasma β-globulin 5% (normal 7% to 13%), transferrin concentration 0 0 147g / L (normal 25 2 ~ 42 9g / L). Liver biopsy showed massive intrahepatic hemosiderrosis (hepatocytes and Kupffer cells) and mild fibrosis. In line with congenital absence of transferrinmia. The concentration of transferrin in the patient’s father was 122 g / L, and the mothers’ transferrin concentration was 14 g / L, which was only half of that in normal subjects. Conclusion Confirmed children with congenital absence of transferrinmia, the disease is autosomal recessive, extremely rare, should raise awareness to prevent misdiagnosis.