Chylomicronemia Caused by Lipoprotein Lipase Gene Mutation Related to a Hyper-response of Insulin Secretion to Glucose.

  • TANAKA Shu
    The Third Department of Internal Medicine, Nippon Medical School
  • TANABE Yoshihiro
    The Department of Internal Medicine, Shimodate-Shimin Hospital
  • TAMURA Hideki
    The Third Department of Internal Medicine, Nippon Medical School
  • ISHII Shinya
    The Third Department of Internal Medicine, Nippon Medical School
  • SHUTO Yuji
    The Third Department of Internal Medicine, Nippon Medical School
  • KAMEGAI Jun
    The Third Department of Internal Medicine, Nippon Medical School
  • SUGIHARA Hitoshi
    The Third Department of Internal Medicine, Nippon Medical School
  • KOBAYASHI Masafumi
    The Third Department of Internal Medicine, Nippon Medical School
  • WAKABAYASHI Ichiji
    The Third Department of Internal Medicine, Nippon Medical School
  • MURANO Takeyoshi
    Clinical Laboratory Medicine, Sakura Hospital, School of Medicine, Toho University
  • SHIRAI Koji
    Clinical Laboratory Medicine, Sakura Hospital, School of Medicine, Toho University
  • OIKAWA Shinichi
    The Third Department of Internal Medicine, Nippon Medical School

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抄録

A 39-year-old man with lipoprotein lipase (LPL) deficiency (height 177.7 cm, body weight 67 kg, and body mass index 21.2 kg/m2) showed severe hypertriglyceridemia (2, 032 mg/dl). LPL activity and concentration were markedly low in postheparin plasma. LPL gene analysis revealed a homozygous mutation, Asp204 → Glu in exon 5. Fasting plasma glucose (81 mg/dl) and insulin (2.7 (μU/ml) levels were normal. Plasma glucose pattern during oral glucose (75 g) tolerance test was normal, however 30 minutes after glucose-loading the insulin secretion unexpectedly increased to 89.4 μU/ml. These data suggested that chylomicronemia might be related to a hyper-response of insulin secretion to glucose without obesity.<br>(Internal Medicine 41: 300-303, 2002)

収録刊行物

  • Internal Medicine

    Internal Medicine 41 (4), 300-303, 2002

    一般社団法人 日本内科学会

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