Schnyder's corneal dystrophyを伴った家族性高コレステロール血症の1例
角膜にコレステロール結晶の沈着するまれな遺伝性疾患であるSchnyder's corneal dystrophyを伴った家族性高コレステロール血症(FH)の1例を経験した.症例は41才男性で父に高コレステロール血症と角膜混濁を認める.患者は小学校時代より両角膜の混濁に気付くも放置. 10年来虚血性心疾患にて加療中,昭和60年FHと診断されたが61年心精査のため入院となった.手背・アキレス腱に黄色腫を認めた.両角膜では表層部に針状結晶が集簇し,また混濁は中央部に強く, Schnyder角膜変性症と診断された.本例ではHDL/LCAT系は正常だったが,角膜のコレステロール沈着と全身性脂質...
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| Published in | 日本内科学会雑誌 Vol. 77; no. 7; pp. 1017 - 1020 |
|---|---|
| Main Authors | , , , , , |
| Format | Journal Article |
| Language | Japanese |
| Published |
一般社団法人 日本内科学会
01.01.1988
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| Online Access | Get full text |
| ISSN | 0021-5384 1883-2083 |
| DOI | 10.2169/naika.77.1017 |
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| Abstract | 角膜にコレステロール結晶の沈着するまれな遺伝性疾患であるSchnyder's corneal dystrophyを伴った家族性高コレステロール血症(FH)の1例を経験した.症例は41才男性で父に高コレステロール血症と角膜混濁を認める.患者は小学校時代より両角膜の混濁に気付くも放置. 10年来虚血性心疾患にて加療中,昭和60年FHと診断されたが61年心精査のため入院となった.手背・アキレス腱に黄色腫を認めた.両角膜では表層部に針状結晶が集簇し,また混濁は中央部に強く, Schnyder角膜変性症と診断された.本例ではHDL/LCAT系は正常だったが,角膜のコレステロール沈着と全身性脂質代謝異常(FH)との関連において,そのメカニズムは不明であった. |
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| AbstractList | 角膜にコレステロール結晶の沈着するまれな遺伝性疾患であるSchnyder's corneal dystrophyを伴った家族性高コレステロール血症(FH)の1例を経験した.症例は41才男性で父に高コレステロール血症と角膜混濁を認める.患者は小学校時代より両角膜の混濁に気付くも放置. 10年来虚血性心疾患にて加療中,昭和60年FHと診断されたが61年心精査のため入院となった.手背・アキレス腱に黄色腫を認めた.両角膜では表層部に針状結晶が集簇し,また混濁は中央部に強く, Schnyder角膜変性症と診断された.本例ではHDL/LCAT系は正常だったが,角膜のコレステロール沈着と全身性脂質代謝異常(FH)との関連において,そのメカニズムは不明であった. |
| Author | 梶波, 康二 若杉, 隆伸 馬渕, 宏 稲津, 明広 竹田, 亮祐 小泉, 順二 |
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| References | 2) Vent JM, van Wibaut F: Een zyeldzame Erfelijke Hoornvliesanndoening. Ned T Geneesk 68: 2996, 1924. 12) Bron AJ, et al: Hereditary crystalline stromal dystrophy of Schnyder. Brit J Ophthal 56: 383, 1972. 3) Schnyder F: Mitteilung über einen neuen Typus von familiarer Hornhauterkrankung. Schw med Wschr 10: 559, 1929. 14) Kaden R, Feurle G: Schnydersche Hornhautdystrophie und Hyperlipidämie. Albr v Graefes Arch Ophthal 198: 129, 1976. 11) Delleman JW, Winkelman JE: Degeneration corneae cristallinea hereditaria. Ophthalmologica (Basel) 155: 409, 1968. 19) Winder AF: Relationship between corneal arcus and hyperlipidaemia is clarified by studies in familial hypercholesterolemia. Brit J Ophthal 67: 789, 1983. 17) 馬渕宏,他 : 日本人の家族性高コレステロール血症の診断基準について.日老医誌 14: 475, 1977. 8) Norum KR, Gjone E: Familial plasma lecithin: cholesterol acyltransferase deficiency. Biochemical study of a new inborn error of metabolism. Scand J Clin Lab Invest 20: 231, 1967. 10) Bonnet P, et al: Cristaux de cholestérine au centre de la cornée avec gérontoxon. Bull Soc Ophthal France 3: 225, 1934. 20) Mabuchi H, et al: Effects of CS-514 on serum lipoprotein lipid and apolipoprotein levels in patients with familial hypercholesterolemia. Metabolism 36: 475, 1987. 5) Schaefer EJ, et al: Plasma apolipoprotein A-I absence associated with a marked reduction of high density lipoproteins and premature coronary artery disease. Arteriosclerosis 2: 16, 1982. 6) Fredrickson DS, et al: Tangier disease. Ann Intern Med 55: 1016, 1961. 13) Fry WE, Pickett WE: Crystalline dystrophy of the cornea. Trans Amer Ophthal Soc 48: 220, 1950. 4) Bron AJ, Tripathi RC: Corneal Disorders. Goldberg MF ed, Genetic and Metabolic Eye Disease, Little, Brown and Company Inc, Boston, 1974, p295. 15) Lisch W, et al: Schnyder's dystrophy progression and metabolism. Ophthalmic Paediatr Genet 7: 45, 1985. 16) Sysi R: Xanthoma corneae as hereditary dystrophy. Brit J Ophthal 34: 369, 1950. 18) Goldstein JL, Brown MS: Familial hypercholesterolemia. Stanbury JB, et al, ed, The Metabolic Basis of Inherited Disease. 5ht edition, McGraw-Hill Inc, New York, 1983, p672. 1) Herbert PN, et al: Familial lipoprotein deficiency: Abetalipoproteinemia, hypobetalipoproteinemia, and Tangier disease. Stanbury JB, et al, ed, The Metabolic Basis of Interited Disease, 5th edition, McGraw-Hill Inc, New York, 1983, p589. 9) Winder AF, Borysiewicz LK: Corneal opacification and familial disorders affecting plasma high-density lipoprotein. Birth Defects 18: 433, 1982. 7) Carlson LA, Philipson B: Fish-eye disease. A new familial condition with massive corneal opacities and dyslipoproteinemia. Lancet II: 921, 1979. |
| References_xml | – reference: 15) Lisch W, et al: Schnyder's dystrophy progression and metabolism. Ophthalmic Paediatr Genet 7: 45, 1985. – reference: 17) 馬渕宏,他 : 日本人の家族性高コレステロール血症の診断基準について.日老医誌 14: 475, 1977. – reference: 18) Goldstein JL, Brown MS: Familial hypercholesterolemia. Stanbury JB, et al, ed, The Metabolic Basis of Inherited Disease. 5ht edition, McGraw-Hill Inc, New York, 1983, p672. – reference: 19) Winder AF: Relationship between corneal arcus and hyperlipidaemia is clarified by studies in familial hypercholesterolemia. Brit J Ophthal 67: 789, 1983. – reference: 6) Fredrickson DS, et al: Tangier disease. Ann Intern Med 55: 1016, 1961. – reference: 9) Winder AF, Borysiewicz LK: Corneal opacification and familial disorders affecting plasma high-density lipoprotein. Birth Defects 18: 433, 1982. – reference: 11) Delleman JW, Winkelman JE: Degeneration corneae cristallinea hereditaria. Ophthalmologica (Basel) 155: 409, 1968. – reference: 4) Bron AJ, Tripathi RC: Corneal Disorders. Goldberg MF ed, Genetic and Metabolic Eye Disease, Little, Brown and Company Inc, Boston, 1974, p295. – reference: 5) Schaefer EJ, et al: Plasma apolipoprotein A-I absence associated with a marked reduction of high density lipoproteins and premature coronary artery disease. Arteriosclerosis 2: 16, 1982. – reference: 10) Bonnet P, et al: Cristaux de cholestérine au centre de la cornée avec gérontoxon. Bull Soc Ophthal France 3: 225, 1934. – reference: 13) Fry WE, Pickett WE: Crystalline dystrophy of the cornea. Trans Amer Ophthal Soc 48: 220, 1950. – reference: 1) Herbert PN, et al: Familial lipoprotein deficiency: Abetalipoproteinemia, hypobetalipoproteinemia, and Tangier disease. Stanbury JB, et al, ed, The Metabolic Basis of Interited Disease, 5th edition, McGraw-Hill Inc, New York, 1983, p589. – reference: 14) Kaden R, Feurle G: Schnydersche Hornhautdystrophie und Hyperlipidämie. Albr v Graefes Arch Ophthal 198: 129, 1976. – reference: 3) Schnyder F: Mitteilung über einen neuen Typus von familiarer Hornhauterkrankung. Schw med Wschr 10: 559, 1929. – reference: 16) Sysi R: Xanthoma corneae as hereditary dystrophy. Brit J Ophthal 34: 369, 1950. – reference: 8) Norum KR, Gjone E: Familial plasma lecithin: cholesterol acyltransferase deficiency. Biochemical study of a new inborn error of metabolism. Scand J Clin Lab Invest 20: 231, 1967. – reference: 2) Vent JM, van Wibaut F: Een zyeldzame Erfelijke Hoornvliesanndoening. Ned T Geneesk 68: 2996, 1924. – reference: 12) Bron AJ, et al: Hereditary crystalline stromal dystrophy of Schnyder. Brit J Ophthal 56: 383, 1972. – reference: 20) Mabuchi H, et al: Effects of CS-514 on serum lipoprotein lipid and apolipoprotein levels in patients with familial hypercholesterolemia. Metabolism 36: 475, 1987. – reference: 7) Carlson LA, Philipson B: Fish-eye disease. A new familial condition with massive corneal opacities and dyslipoproteinemia. Lancet II: 921, 1979. |
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| Title | Schnyder's corneal dystrophyを伴った家族性高コレステロール血症の1例 |
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