先天性无运铁蛋白血症一例

Congenital atransferrinemia: a case report

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 Congenital atransferrinemia (CAT) is an extremely rarely, recessively inherited disorder. To date, only eight cases have been reported in the published literatures of the world, and there is no report in China. The authors diagnosed a difficult and complicated case suffering from severe anemia for 3 years. Methods A thirteen-year-old boy was transferred to the Pediatric Department, Ruijin Hospital for recurrent anemia with significant hepatosplenomegaly three years. The child had required transfusion of whole blood and iron many times, but there was no benefit to the anemia. The child denied a family history of anemia, and his parents are normal. Diagnosis was confirmed according to the symptoms, signs, special laboratory examinations (liver biopsy, bone marrow biopsy, serum TRF, etc.) and the previously published papers of other authors. Results The patient manifested as severe anemia, hepatomegaly and splenectasis. The beta-globulin fraction was 5% (normal value: 7%～13%) on serum protein electrophoresis, and assays for TRF showed 0.0147g/L (normal value: 2.52～4.29g/L). The liver biopsy revealed the significant deposition of hemosiderin within the hepatocytes and kupffer cells. The parent of the boy showed a low level of TRF. His father′s TRF was 1.29g/L, and his mother′s TRF was 1.4 g/L. CAT is an autosomal recessive disease. Conclusion The diagnosis of congenital atransferrinemia was established, which remind that doctors must pay a great attention to this rare disease.