遗传性血色病五例临床分析

Study of clinical characteristics of hereditary hemochromatosis

目的探讨遗传性血色病的临床特点,评价铁生化指标、MRI、肝穿病理学检查在遗传性血色病诊断中的作用。方法5例患者,4男1女。先证者因不明原因肝硬化伴皮肤黏膜色素沉着来院确诊。通过对先证者的家系调查,进行临床、铁生化指标、胸腹部MRI、病理组织学和特殊染色的观察,确诊4例早期患者。结果该家系5例患者中3例出现皮肤黏膜色素沉着,1例肝硬化,未见糖尿病;5例患者血清铁均正常,其中3例血清铁蛋白异常;2例肝穿病理检查,其中1例肝铁过多沉积;而MRI显示每例患者至少有1个内脏器官的铁沉积,以肝脏铁沉积最为显著。结论遗传性血色病患者在我国较少见,临床特点不明显,诊断困难,尤其是遗传性血色病早期患者。家系调查结合MRI检测对遗传性血色病的早期诊断显得更为重要。

Objective To study the clinical characteristics of hereditary hemochromatosis（HHC） and to evaluate the effect of clinical examination in HHC early diagnosis. Methods 5 patients with familial HHC, including the proband, male, aged 34 years, his 30year - old sister, his 10yearold son and two elder brothers were analysed. Peripheral blood samples were collected for SI, SF,TS examination. MRI was performed on the five patients. Liver biopsy was performed on the proband and his sister with HE and Perls Prussian blue stain. Results Pigments were observed in three patients（3/5） . SF were evaluated in three patients, Hepatocellular iron deposition was observed in the proband specimens （3/5）. The MRI findings showed the evidence of iron deposition in different organs of the five patients （ 5/5 ）. Conclusion HHC is a rare disease in China and diagnosis is di^euh. Pedigree investigation and MRI are important for the early diagnosis.