Vas Katalin, Hubay Marta, Tordai Attila, Andrikovics Hajnalka, Zoltán Sápi, Jánosi András
Fovárosi Onkormányzat Szent János Kórháza, III Belgyógyászat-Kardiológia, Budapest.
Orv Hetil. 2005 Dec 18;146(51):2605-8.
Juvenile haemochromatosis is an autosomal, recessive inherited iron metabolism disorder. The rapid deterioration and malignant prognosis differentiate juvenile haemochromatosis from hereditary haemochromatosis. The authors summarize the history of a 25 year old man, who worked in Hungary as a guest worker living in Romania. No significant illness has occurred in his previous history. The abdominal pain was his first symptom and he was treated in different institutions, where cholecystitis, alcoholic hepatic disease, hepatic cirrhosis were considered as a cause of his symptoms. Some weeks later atrial tachycardia, and congestive heart failure were observed and he was sent to our Cardiology Department. The echocardiography revealed diffuse hypokinesis, serious systolic dysfunction (ejection fraction: 21%), grade II mitral and tricuspid insufficiency with pulmonary hypertension. Considering the rapid deterioration of his cardiac function, myocarditis was suspected. Myocardial biopsy and coronary arteriography were performed. Coronary arteries were normal. Ventricular fibrillation occurred during coronary arteriography. Myocardial biopsy revealed juvenile haemochromatosis. Special laboratory examinations (transferrin saturation) were made after biopsy, that also confirmed the diagnosis of juvenile haemochromatosis. Cardiac transplantation was planned. Some days after the diagnosis was made the patient died of cardiogenic shock and intractable heart failure. Autopsy revealed hypogonadism and serious haemochromatosis in different parenchymal organs. Juvenile haemochromatosis should be considered in every young patient with congestive heart failure of unknown etiology.
青少年血色病是一种常染色体隐性遗传的铁代谢紊乱疾病。其快速恶化和恶性预后使其有别于遗传性血色病。作者总结了一名25岁男性的病史，该男子作为外来务工人员在匈牙利工作，居住在罗马尼亚。他既往无重大疾病史。腹痛是他的首发症状，曾在不同机构接受治疗，这些机构认为胆囊炎、酒精性肝病、肝硬化是其症状的病因。几周后，观察到房性心动过速和充血性心力衰竭，随后他被送往我们的心脏病科。超声心动图显示弥漫性运动减弱、严重的收缩功能障碍（射血分数：21%）、二尖瓣和三尖瓣II级关闭不全伴肺动脉高压。考虑到其心功能迅速恶化，怀疑为心肌炎。进行了心肌活检和冠状动脉造影。冠状动脉正常。冠状动脉造影期间发生室颤。心肌活检显示为青少年血色病。活检后进行了特殊实验室检查（转铁蛋白饱和度），也证实了青少年血色病的诊断。计划进行心脏移植。确诊几天后，患者死于心源性休克和顽固性心力衰竭。尸检显示性腺功能减退以及不同实质器官存在严重的血色病。对于每一位病因不明的充血性心力衰竭年轻患者，均应考虑青少年血色病。
