ATP7B analysis of a Wilson disease family

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  • Tatsumi Yasuaki
    Department of Medicine, Aichi Gakuin University School of Pharmacy
  • Miura Yurie
    Department of Medicine, Aichi Gakuin University School of Pharmacy
  • Hattori Ai
    Department of Medicine, Aichi Gakuin University School of Pharmacy Department of Medical Technology, Nagoya University Graduate School of Medicine
  • Hayashi Hisao
    Department of Medicine, Aichi Gakuin University School of Pharmacy
  • Kato Kouichi
    Department of Medicine, Aichi Gakuin University School of Pharmacy
  • Ueyama Jun
    Department of Medical Technology, Nagoya University Graduate School of Medicine
  • Wakusawa Shinya
    Department of Medical Technology, Nagoya University Graduate School of Medicine
  • Hayashi Kazuhiko
    Department of Gastroenterology and Hepatology, Nagoya University Graduate School of Medicine
  • Katano Yoshiaki
    Department of Gastroenterology and Hepatology, Nagoya University Graduate School of Medicine
  • Goto Hidemi
    Department of Gastroenterology and Hepatology, Nagoya University Graduate School of Medicine

Bibliographic Information

Other Title
  • ATP7B遺伝子検査を施行したウイルソン病の1家系
  • 症例報告 ATP7B遺伝子検査を施行したウイルソン病の1家系
  • ショウレイ ホウコク ATP7B イデンシ ケンサ オ シコウ シタ ウイルソンビョウ ノ 1 カケイ

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Description

Wilson disease is a genetic copper toxicosis due to hepatic copper transporter ATP7B deficiency. The primary lesion is copper-induced liver damage that progresses to cirrhosis, and may be complicated by extrahepatic lesions. Compound heterozygous mutations were identified in the ATP7B of a 16-year-old male patient with neurological Wilson disease. A family study disclosed different mutations in the parents, compound heterozygous mutations from the parents in the 12-year-old sister, and a maternal mutation in the 14-year-old sister. According to the autosomal recessive inheritance of this disease, the family members with compound heterozygous mutations are affected, but those with a heterozygous mutation are not affected by copper toxicosis. Both the proband and an asymptomatic sister with the disease trait were effectively treated with penicillamine and vitamin B6. ATP7B analysis, recently authorized in Japan, provides a noninvasive, definitive diagnosis of Wilson disease.<br>

Journal

  • Kanzo

    Kanzo 54 (5), 334-339, 2013

    The Japan Society of Hepatology

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