一个遗传性血色病家系的临床特点及其遗传基础初探

目的 探讨一个遗传性血色病家系的临床特点及初步查找该家系的遗传基础. 方法对该家系成员进行问诊、体检、实验室检查、多器官MRI检查、肝穿刺活组织检查(铁染色),绘制家系图谱.采集血样,对常见的遗传性血色病致病基因进行测序分析. 结果该家系成员中有7人存在铁过载,临床诊断为遗传性血色病.家系患者代代相传,无性别差异,外显率约46%.常见的SLC40A1和HFE基因突变位点在该家系成员中未发现. 结论该遗传性血色病家系患者以皮肤色素沉着、肝脾等脏器铁沉积最具特征,为常染色体显性遗传,但其遗传基础尚不明确.

Clinical research and preliminarily exploration of genetic basis on a hereditary hemachromatosis pedigree

Objective To describe the clinical features of a hereditary hemachromatosis pedigree and to explore preliminarily the genetic basis of this pedigree. Methods Survey was carried out among the family members, including history taking, physical examination, laboratory examination (such as iron-biochemistry indexes, liver function, blood sugar), multiple-organs MRI scan, iron staining of liver biopsy tissues and making the pedigree chart. The blood samples of the pedigree were collected, the genomic DNA was extracted, the PCR amplification was made and finally the sequence analysis for several mutations of common hereditary hemochromatosis genes was done. Results In this pedigree, 7 members were found with iron overload and clinically diagnosed as hereditary hemachromatosis. The features are transmitted from generation to generation without gender difference and the gene penetrance is about 46%. The common mutations of SLC40A1 and HFE were not found in the family members. Conclusion Cutaneous pigmentation and iron overload in liver and spleen are the most typical characters in this hereditary hemochromatosis pedigree, which corresponds with autosomal dominant inheritance. However, the genetic basis of this pedigree is unknown yet.