A CASE REPORT OF INFANTILE FAMILIAL ADENOMATOUS POLYPOSIS (FAP) EVALUATED BY ADENOMATOUS POLYPOSIS COLI (APC) GENE ANALYSIS AND DOUBLE-BALLOON ENTEROSCOPY

  • SHINAGAWA Kei
    Depariment of Gastroenterology and Hepatology , Hiroshima General Hospital
  • KOMATSU Hironao
    Depariment of Gastroenterology and Hepatology , Hiroshima General Hospital
  • OHARA Eiji
    Depariment of Gastroenterology and Hepatology , Hiroshima General Hospital
  • ASAMOTO Yasumasa
    Depariment of Gastroenterology and Hepatology , Hiroshima General Hospital
  • TOKUMO Hironori
    Depariment of Gastroenterology and Hepatology , Hiroshima General Hospital
  • ISHIDA Kunio
    Depariment of Gastroenterology and Hepatology , Hiroshima General Hospital
  • MANABE Noriaki
    Departrnent of endoscopy, Hiroshima University Hospital
  • TANAKA Shinji
    Departrnent of endoscopy, Hiroshima University Hospital
  • CHAYAMA Kazuaki
    Department of Medicine and Molecular Science , Division of Frontier Medical Science, Programs ,fur Biomedical Research, Graduate School of Biomedical Science, Hiroshima University

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Other Title
  • ダブルバルン式小腸内視鏡検査が診断と治療方針決定に有用であった家族性大腸腺腫症の1小児例

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Abstract

A 7-year-old boy was diagnosed as FAP by double-balloon enteroscopy and APC gene analysis. As anemia was progressing after endoscopic polypectomy of a colon polyp (30mm diameter), the residual polyps of the small intestine and colon were additionally removed by surgery. Because a canceration risk about colonic polyps in this case was very high, total colectomy was recommended. Considering his low age, and capacity of digestion and absorption, we observed the clinical course of polyps at the small intestine carefully. APC gene analysis is useful for an estimate of a phenotype of FAP, but is insufficient for evaluation and treatment. Any endoscopy was indispensable, and particularly, double-balloon enteroscopy was very useful for evaluation and treatment of infantile FAP.

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