Hereditary hemochromatosis in a male patient with TFR2 (18611872del12) gene mutation: the second biopsy 19 years after diagnosis

  • Kawanaka Miwa
    Department of General Internal Medicine 2, Kawasaki Medical School
  • Nakamura Jun
    Department of General Internal Medicine 2, Kawasaki Medical School
  • Oka Yoshihito
    Department of General Internal Medicine 2, Kawasaki Medical School
  • Kimura Tomonari
    Department of General Internal Medicine 2, Kawasaki Medical School
  • Goto Daisuke
    Department of General Internal Medicine 2, Kawasaki Medical School
  • Yamato Ryumei
    Department of General Internal Medicine 2, Kawasaki Medical School
  • Nishino Ken
    Department of General Internal Medicine 2, Kawasaki Medical School
  • Suehiro Mitsuhiko
    Department of General Internal Medicine 2, Kawasaki Medical School
  • Kawamoto Hirofumi
    Department of General Internal Medicine 2, Kawasaki Medical School
  • Yamada Gotaro
    Department of General Internal Medicine, Kawasaki Medical School
  • Hattori Ai
    Department of Medicine, Aichi Gakuin University School of Pharmacy
  • Hayashi Hisao
    Department of Medicine, Aichi Gakuin University School of Pharmacy

Bibliographic Information

Other Title
  • 19年の経過で繰り返し肝生検を行ったTFR2ヘモクロマトーシスの1例
  • 症例報告 19年の経過で繰り返し肝生検を行ったTFR2ヘモクロマトーシスの1例
  • ショウレイ ホウコク 19ネン ノ ケイカ デ クリカエシ キモセイケン オ オコナッタ TFR2 ヘモクロマトーシス ノ 1レイ

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Description

A 68-year old male patient with TFR2 hemochromatosis underwent the second assessment. At the age of 50 years, he already had liver cirrhosis. He was subjected to phlebotomy during the next 19 years and has developed neither diabetes mellitus nor heart failure. Compared with the first biopsy, the second one showed an improvement of iron deposit in hepatocytes and sinusoidal cells as well as of liver fibrosis, as assessed not only by AZAN stain, but also by elastica van Gieson stain and silver stain for reticulum fibers. The key is timing of diagnosis and continued treatment for patients with HH.<br>

Journal

  • Kanzo

    Kanzo 52 (11), 745-752, 2011

    The Japan Society of Hepatology

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