Hereditary iron and copper deposition: Diagnostics, pathogenesis and therapeutics

Jan Aaseth, Trond Peder Flaten, Ole Andersen

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

    Resumé

    Hereditary deposition of iron (primary haemochromatosis) or copper (Wilson's disease) are autosomal recessive metabolic disease characterized by progressive liver pathology and subsequent involvement of various other organs. The prevalence of primary haemochromatosis is approximately 0.5%, about 200 times higher than the prevalence of Wilson's disease. The two diseases are characterized by homozygous occurrences of mutations in the HFE gene on chromosome 6 (primary haemochromatosis) and the ATP7B gene on chromosome 13 (Wilson's disease). Unlike most other inherited conditions, these diseases can be successfully treated, emphasizing the importance of early diagnosis. Serum ferritin values, transferrin saturation and genetic analysis are used when diagnosing haemochromatosis. The diagnostics of Wilson's disease depends on the use of urinary copper values, serum ceruloplasmin and liver biopsy. If untreated, both of these genetic diseases result in rapidly progressing multiorgan damage and early death. The key treatment for haemochromatosis is phlebotomy, for Wilson's disease chelation or Zn treatment. Although the present treatments considerably improve the prognosis of patients, they may be inadequate in patients diagnosed so late that extensive body deposits of metal have been developed. The main research needs in this field are to further clarify molecular mechanisms of disease progression and to develop new chelators that are more effective and less toxic than those presently available
    OriginalsprogEngelsk
    TidsskriftScandinavian Journal of Gastroenterology
    Vol/bind42
    Udgave nummer6
    Sider (fra-til)673-681
    Antal sider9
    ISSN0036-5521
    DOI
    StatusUdgivet - 2007

    Emneord

      Citer dette

      Aaseth, Jan ; Flaten, Trond Peder ; Andersen, Ole. / Hereditary iron and copper deposition : Diagnostics, pathogenesis and therapeutics. I: Scandinavian Journal of Gastroenterology. 2007 ; Bind 42, Nr. 6. s. 673-681.
      @article{5eaeae90a3fa11dcaf2d000ea68e967b,
      title = "Hereditary iron and copper deposition: Diagnostics, pathogenesis and therapeutics",
      abstract = "Hereditary deposition of iron (primary haemochromatosis) or copper (Wilson's disease) are autosomal recessive metabolic disease characterized by progressive liver pathology and subsequent involvement of various other organs. The prevalence of primary haemochromatosis is approximately 0.5{\%}, about 200 times higher than the prevalence of Wilson's disease. The two diseases are characterized by homozygous occurrences of mutations in the HFE gene on chromosome 6 (primary haemochromatosis) and the ATP7B gene on chromosome 13 (Wilson's disease). Unlike most other inherited conditions, these diseases can be successfully treated, emphasizing the importance of early diagnosis. Serum ferritin values, transferrin saturation and genetic analysis are used when diagnosing haemochromatosis. The diagnostics of Wilson's disease depends on the use of urinary copper values, serum ceruloplasmin and liver biopsy. If untreated, both of these genetic diseases result in rapidly progressing multiorgan damage and early death. The key treatment for haemochromatosis is phlebotomy, for Wilson's disease chelation or Zn treatment. Although the present treatments considerably improve the prognosis of patients, they may be inadequate in patients diagnosed so late that extensive body deposits of metal have been developed. The main research needs in this field are to further clarify molecular mechanisms of disease progression and to develop new chelators that are more effective and less toxic than those presently available",
      keywords = "Chelating agents, chelation therapy, copper, diagnosis, haemochromatosis, hepatolenticular degeneration, iron phlebotomy, therapy",
      author = "Jan Aaseth and Flaten, {Trond Peder} and Ole Andersen",
      year = "2007",
      doi = "10.1080/00365520601075662",
      language = "English",
      volume = "42",
      pages = "673--681",
      journal = "Scandinavian Journal of Gastroenterology",
      issn = "0036-5521",
      publisher = "Taylor & Francis",
      number = "6",

      }

      Hereditary iron and copper deposition : Diagnostics, pathogenesis and therapeutics. / Aaseth, Jan; Flaten, Trond Peder; Andersen, Ole.

      I: Scandinavian Journal of Gastroenterology, Bind 42, Nr. 6, 2007, s. 673-681.

      Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

      TY - JOUR

      T1 - Hereditary iron and copper deposition

      T2 - Diagnostics, pathogenesis and therapeutics

      AU - Aaseth, Jan

      AU - Flaten, Trond Peder

      AU - Andersen, Ole

      PY - 2007

      Y1 - 2007

      N2 - Hereditary deposition of iron (primary haemochromatosis) or copper (Wilson's disease) are autosomal recessive metabolic disease characterized by progressive liver pathology and subsequent involvement of various other organs. The prevalence of primary haemochromatosis is approximately 0.5%, about 200 times higher than the prevalence of Wilson's disease. The two diseases are characterized by homozygous occurrences of mutations in the HFE gene on chromosome 6 (primary haemochromatosis) and the ATP7B gene on chromosome 13 (Wilson's disease). Unlike most other inherited conditions, these diseases can be successfully treated, emphasizing the importance of early diagnosis. Serum ferritin values, transferrin saturation and genetic analysis are used when diagnosing haemochromatosis. The diagnostics of Wilson's disease depends on the use of urinary copper values, serum ceruloplasmin and liver biopsy. If untreated, both of these genetic diseases result in rapidly progressing multiorgan damage and early death. The key treatment for haemochromatosis is phlebotomy, for Wilson's disease chelation or Zn treatment. Although the present treatments considerably improve the prognosis of patients, they may be inadequate in patients diagnosed so late that extensive body deposits of metal have been developed. The main research needs in this field are to further clarify molecular mechanisms of disease progression and to develop new chelators that are more effective and less toxic than those presently available

      AB - Hereditary deposition of iron (primary haemochromatosis) or copper (Wilson's disease) are autosomal recessive metabolic disease characterized by progressive liver pathology and subsequent involvement of various other organs. The prevalence of primary haemochromatosis is approximately 0.5%, about 200 times higher than the prevalence of Wilson's disease. The two diseases are characterized by homozygous occurrences of mutations in the HFE gene on chromosome 6 (primary haemochromatosis) and the ATP7B gene on chromosome 13 (Wilson's disease). Unlike most other inherited conditions, these diseases can be successfully treated, emphasizing the importance of early diagnosis. Serum ferritin values, transferrin saturation and genetic analysis are used when diagnosing haemochromatosis. The diagnostics of Wilson's disease depends on the use of urinary copper values, serum ceruloplasmin and liver biopsy. If untreated, both of these genetic diseases result in rapidly progressing multiorgan damage and early death. The key treatment for haemochromatosis is phlebotomy, for Wilson's disease chelation or Zn treatment. Although the present treatments considerably improve the prognosis of patients, they may be inadequate in patients diagnosed so late that extensive body deposits of metal have been developed. The main research needs in this field are to further clarify molecular mechanisms of disease progression and to develop new chelators that are more effective and less toxic than those presently available

      KW - Chelating agents

      KW - chelation therapy

      KW - copper

      KW - diagnosis

      KW - haemochromatosis

      KW - hepatolenticular degeneration

      KW - iron phlebotomy

      KW - therapy

      U2 - 10.1080/00365520601075662

      DO - 10.1080/00365520601075662

      M3 - Journal article

      VL - 42

      SP - 673

      EP - 681

      JO - Scandinavian Journal of Gastroenterology

      JF - Scandinavian Journal of Gastroenterology

      SN - 0036-5521

      IS - 6

      ER -