動脈硬化
Online ISSN : 2185-8284
Print ISSN : 0386-2682
ISSN-L : 0386-2682
CETP遺伝子エクソン15のミスセンス変異を有し一過性に著明な高HDL血症を呈した神経性食欲不振症の1例
井上 直子野崎 秀一石神 眞人平野 賢一酒井 尚彦山下 静也松澤 佑次伊藤 芳晴
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2002 年 29 巻 3 号 p. 57-62

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Anorexia nervosa is known to induce various metabolic disorders such as low T3 syndrome, high levels of GH, liver function disorder, amenorrhea, hypokalemia, hypochloremia, hypoglycemia, and lymphopenia. We experienced a 20-year-old woman with anorexia nervosa who had severe liver dysfunction and hyper HDL-cholesterolemia (140mg/dl). The level of HDL-cholesterol changed in parallel with that of serum transaminase. With the recovery of serum transaminase levels, the level of HDL-choresterol normalized to 46mg/dl. In the analysis of CETP genes, she was heterozygotic in the CETP gene with exon 15 missense mutation. CETP activity and protein concentrations were at the lowend of the normal range.
In reported cases of anorexia nervosa, the level of HDL-cholesterol is not necessarily elevated. Since the high level of HDL-cholesterol was significantly associated with her serum transaminases levels, we speculate that high serum levels of HDL-cholesterol may result from the decrease of HTGL activity due to liver dysfunction and the increase of LPL due to hyperactivity on the basis of CETP deficient heterozygotes.

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