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原发性血色病(Primary Hemochromatosis,PH)是一种铁代谢异常的遗传病,发病率在西方国家约3‰～5‰,国内至1996年仅报道20例.我科新近收治一典型病例,现结合文献进行讨论.1 病历简介患者 男,35岁.因持续性右上腹痛5年,多饮、多食、多尿5月入院.近年肤色加深,伴心慌、嗜睡及性欲减退.否认嗜酒、服铁剂及输血史.体检:消瘦,毛发稀疏,全身皮肤呈青铜色.BP12/7kPa,心率70次/分,早搏3～8次/分.肝助下8cm,质中,轻度压病.脾无肿大,腹水征阳性,睾丸及外生殖器轻度萎缩.实验室检查:Hb126g/L,肝功能正常,αFP阴性.血清铁26.8μmol/L,血清铁蛋白8893μg/L.空腹血糖18.4mmol/L,尿糖++++,C肽0.82μg/L.ACTh0.1ng/L,F372nmol/L,LH4.8IU/L,FSHo.3IU/L,T34ng/L.动态心电图:快速房颤,心肌缺血.CT:肝脏明显增大,CT值113Hu.肝穿刺活检:肝细胞内外大量含铁颗粒沉积伴纤维组织增生.皮肤活检:汗腺周围含铁颗粒环状沉积.骨髓细胞学及铁染色正常.诊断:原发性血色病,肝硬化代偿期,继发性心肌病、糖尿病及垂体前叶机能减退.给予每周放血400ml治疗40次,饮食控制加胰岛素及性激素替代疗法,目前患者腹痛缓解,肝脏缩至肋下3cm.代谢指标控制良好,房颤转为窦性心律.
Primary Hemochromatosis (PH) is a genetic disease with abnormal iron metabolism, the incidence is about 3 ‰ ~ 5 ‰ in western countries and only 20 cases were reported in China in 1996. Our department recently treated a typical case, Now combined with the literature discussion .1 medical history of the patient male, 35 years old due to persistent right upper quadrant pain for 5 years, multi-drink, eat more, polyuria admitted in May in recent years, with darker skin, with palpitation, lethargy and loss of libido. , Iron and blood transfusion history.Physiological examination: weight loss, thinning hair, the body was bronze skin.BBP12 / 7kPa, heart rate 70 beats / min, premature beats 3 to 8 beats / min. Lack of swelling of the spleen, positive ascites, testis and external genital mild atrophy Laboratory tests: Hb126g / L, normal liver function, αFP negative serum iron 26.8μmol / L, serum ferritin 8893μg / L. Fasting blood glucose 18.4mmol / L, urinary sugar ++++, C peptide 0.82μg / L.ACTh0.1ng / L, F372nmol / L, LH4.8IU / L, FSHo.3IU / L, T34ng / L. Holter: Tremor, myocardial ischemia .CT: Liver increased significantly, CT value 113Hu. Liver biopsy: a large number of iron and iron particles inside and outside the liver cell deposition with fibrous tissue. Skin biopsy: iron particles around the sweat gland ring deposition. Cytology and iron staining normal diagnosis: primary hemochromatosis, cirrhosis compensatory, secondary cardiomyopathy, diabetes mellitus and anterior pituitary dysfunction given 400ml weekly bleeding 40 times treatment, diet control plus insulin and sex hormones Alternative therapy, the current patients with abdominal pain relief, the liver shrink to the ribs 3cm. Metabolic indicators of good control, atrial fibrillation into sinus rhythm.