论文部分内容阅读
目的了解3个携带HJV E3D变异的遗传性血色病家系基因变异及临床表型特点。方法 3个遗传性血色病家系中的先证者均完成了病史采集、铁指标、肝功能、腹部核磁检查、肝活检,排除铁过载的继发性原因,临床考虑为遗传性血色病。先证者及其一级亲属分别检测目前已知的遗传性血色病相关的5个基因(HFE、HAMP、HJV、TFR2和SLC40A1)。结果 3个携带HJV E3D变异的遗传性血色病先证者均具有明确的铁过载表现,家系1和家系2中各有1个成员具有铁过载。2例携带HJV E3D变异的先证者还同时携带其他类型血色病基因变异。结论 HJV基因E3D变异可能为我国遗传性血色病的热点变异,可能需要同时伴随其他位点变异才会出现表型,且男性、年龄增加更容易出现血色病表型。
Objective To understand the genetic variation and clinical phenotypic characteristics of 3 hereditary hemochromatosis pedigrees carrying HJV E3D mutation. Methods All the probands in 3 hereditary hemochromatosis pedigrees completed the history collection, iron index, liver function, abdominal magnetic resonance imaging and liver biopsy, and excluded the secondary cause of iron overload. The clinical consideration was hereditary hemochromatosis. The probands and their first degree relatives tested five genes (HFE, HAMP, HJV, TFR2, and SLC40A1) associated with hereditary hemochromatosis, respectively. Results All 3 hereditary hemochromatosis probands carrying the HJV E3D mutation had a clear iron overload. One member of each of family 1 and family 2 had iron overload. Two cases of probands carrying the HJV E3D mutation also carried other genetic variations of hemochromatosis. Conclusion The E3D mutation of HJV gene may be a hot spot mutation of hereditary hemochromatosis in China. It may be necessary to be accompanied by other site variation before phenotyping. In addition, men and adulthood may be more susceptible to hemochromatosis phenotype.