Reversible cardiomyopathy in a patient with juvenile hemochromatosis.

نویسندگان

  • Robert Blank
  • Thomas Wolber
  • Micha Maeder
  • Hans Rickli
چکیده

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منابع مشابه

Genetic abnormalities and juvenile hemochromatosis: mutations of the HJV gene encoding hemojuvelin.

Juvenile hemochromatosis is an early-onset form of iron storage disease characterized by hypogonadotrophic hypogonadism and cardiomyopathy. Recently, the putative causative gene (LOC148738) encoding a protein designated hemojuvelin was cloned. The previously proposed designation of this gene as HFE2 is contrary to established convention, because it is not a member of the HFE family. We suggest ...

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Reversal of end-stage heart failure in juvenile hemochromatosis with iron chelation therapy: a case report

BACKGROUND Juvenile hemochromatosis is the most severe form of iron overloading phenotype. Although rare, it should be suspected in patients who present with hypogonadotropic hypogonadism, diabetes mellitus, or cardiomyopathy without a clear cause. CASE PRESENTATION A young Serbian male presenting with end-stage heart failure was referred for extracorporeal membrane oxygenation. An endomyocar...

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A Late Presentation of a Fatal Disease: Juvenile Hemochromatosis

Juvenile hemochromatosis is a rare and severe form of hereditary hemochromatosis. We report the case of a 39-year-old female who presented with heart failure and cirrhosis from previously unrecognized juvenile hemochromatosis. This is the latest presentation described in the literature. An important clue to the diagnosis was a history of amenorrhea since the age of 20 that had never been invest...

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Molecular mechanism of hepcidin deficiency in a patient with juvenile hemochromatosis.

We describe a point mutation creating an additional ATG codon in the 5' untranslated region (UTR) of the HAMP gene, in a patient with juvenile hemochromatosis. By transient in vitro transfection studies, we provide evidence that the additional ATG is functional and prevents normal hepcidin production by inducing an aberrant translation initiation of the pre-hepcidin mRNA.

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Juvenile hemochromatosis (JH) is a rare autosomal recessive disorder of iron metabolism, genetically heterogeneous. In JH, symptomatic organ involvement occurs as early as the second decade of life. Heart failure and/or arrhythmias are the most frequent causes of death. Phlebotomy is the safest, most effective, and most economic therapeutic approach in hemochromatosis patients but is not indica...

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عنوان ژورنال:
  • International journal of cardiology

دوره 111 1  شماره 

صفحات  -

تاریخ انتشار 2006