Japanese Family with a Deficiency of Lecithin: Cholesterol Acyltransferase (LCAT).
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概要
- 論文の詳細を見る
We present findings in the ninth known Japanese family with lecithin: cholesterol acyltransferase (LCAT) deficiency. A 54-year-old man (proband) and his 58-year-old brother presented with corneal opacity. Both subjects showed a marked decrease in serum high density lipoprotein (HDL)-cholesterol and in the cholesteryl ester ratio. Although apo A-I and A-II were low, apo E tended to be high. Serum LCAT activity and mass were not detectable. Urinary examination showed microhematuria or proteinuria. Renal function was normal and no anemia was demonstrated, but blood smears showed poikilocytosis with target cells. The serum LCAT activity of the proband's three sons, obligate heterozygotes of LCAT deficiency, was about one-half the normal level, and HDL-cholesterol and apo A-I levels were low normal.(Internal Medicine 33: 677-682, 1994)
- 社団法人 日本内科学会の論文
著者
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Kasuga Masato
The Second Department Of Internal Medicine Kobe University School Of Medicine
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Kuzuya Fumio
The Department Of Geriatrics Nagoya University School Of Medicine
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Naito Michitaka
The Department Of Geriatrics Nagoya University School Of Medicine
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YOSHINO Gen
The Department of Laboratory Medicine, Toho University School of Medicine
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MAEDA Eiichi
The Second Department of Internal Medicine. Kobe University School of Medicine
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IGUCHI Akihisa
The Department of Geriatrics, Nagoya University School of Medicine
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