Diagnosi di emocromatosi ereditaria mediante analisi molecolare del DNA in paziente con cirrosi epatica anti-HCV positiva. Caso clinico

Translated title of the contribution: Diagnosis of hereditary hemochromatosis by DNA-analysis in patient with anti-HCV positive liver cirrhosis. Case report

Research output: Contribution to journalArticlepeer-review

Abstract

A case of hereditary hemochromatosis in a patient affected by anti-HCV positive liver cirrhosis is described. The difficulties for an exact diagnosis are underlined. Really, it can be particularly difficult to make a differential diagnosis between hereditary hemochromatosis and secondary hemochromatosis, if liver cirrhosis has already been found. Practically, at this stage of disease, the histological and clinical aspects of these two forms become completely interchangeable. Moreover, diagnostic difficulties increase when, at the same time, the patient presents more causes of potential liver damage. In this case report, the DNA-analysis, obtained by polymerase chain reaction amplification and enzymatic digestion, allows to make the diagnosis of hereditary hemochromatosis, because it showed the presence of two genetic mutations, considered responsible for the disease. Both the hereditary hemochromatosis and the HCV infection, had greatly contributed to the development of liver cirrhosis. In the future, DNA- analysis by amplification with polymerase chain reaction, can assume relevant importance for the screening of affected patients' first grade parents too. It could permit an early diagnosis of hereditary hemochromatosis and then to start a timelier and more efficacious therapy, to prevent an irreversible histological damage.

Translated title of the contributionDiagnosis of hereditary hemochromatosis by DNA-analysis in patient with anti-HCV positive liver cirrhosis. Case report
Original languageItalian
Pages (from-to)323-327
Number of pages5
JournalMinerva Medica
Volume89
Issue number9
Publication statusPublished - 1998

ASJC Scopus subject areas

  • Medicine(all)

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