Arg56Gly/Arg75Ter复合杂合突变所致遗传性血色病心肌病1例

A case of hemochromatosis cardiomyopathy with a novel mutation

1病历资料患者,男,30岁,2017年8月因'运动后出现口干、多饮、多尿2周'为主诉于深圳市第二医院首次入院就诊,既往否认'高血压'、'糖尿病'病史,无吸烟、饮酒史,否认肝炎等传染性疾病史,无家族史。入院体检:血压144/86 mmHg(1 mmHg=0.133kPa),全身皮肤散在瘀点,双手指间关节皮肤色素沉着,双侧腋窝无腋毛、阴毛偏少。

Hereditary hemochromatosis(HH)is a rare iron metabolism disorder caused by HFE,HJV,HAMP,TfR2 or SCL40 A1 genes mutations.The most serious type among them is juvenile hemochromatosis due to HAMP or HJV gene mutations.Here,we report a 30 years old man who was featured with severe cardiomyopathy,liver cirrosis and diabetes.The value of ferritin and MRI of cardiac and hepatic revealed severe iron overload.Then,an unreported compound heterozygous mutation(Arg56 Gly/Arg75 Ter)in HAMP gene was confirmed by gene detection.His condition developed rapidly even with iron chelation therapy and phlebotomy.Finally,he received heart transplantation due to refractory heart failure,but died one month later because of severe infection.The biopsy of his cardiac tissue confirmed the diagnose of cardiac hemochromatosis.It indicated that the novel compound heterozygous mutation(Arg56 Gly/Arg75 Ter)in HAMP might contribute to the severe phenotype of the patient.In addition,it is essential for cardiac hemochromatosis to remove excess iron.And when congestive heart failure occurs,heart transplantation should be considered as soon as possible.