[代谢紊乱与角膜变化（作者译）]

[Metabolic disorders and corneal changes (author's transl)].

作者信息

François J

出版信息

Klin Monbl Augenheilkd. 1981 Jun;178(6):419-23.

Abstract

The following inborn errors of metabolism may show corneal changes: A. Inborn errors of metabolism affecting the corneal epithelium: (1) familial dysautonomia, (2) tyrosinaemia type II, (3) Fabry's glycolipidosis. B. Inborn errors of metabolism affecting the corneal stroma: I. Localized amyloidosis (lattice dystrophy of the cornea), II. Defects in carbohydrate metabolism: (1) localized mucopolysaccharidosis (macular dystrophy of the cornea), (2) systemic mucopolysaccharides, (3) glycogen storage disease. III. Defects in lipid metabolism: (1) localized from (Schnyder's crystalline dystrophy), (2) systemic forms (hyperlipoproteinaemia, hypolipoproteinaemia, Lecithin-cholesterol acyl transferase deficiency, Wolman's disease, Gaucher's disease). IV. Combined defects in lipid and carbohydrate metabolism (mucolipidoses). V. Other inherited metabolic disorders: (1) aminoacidopathies (cystinosis, Wilson's disease, ochronosis, Chediak-Higashi syndrome), (2) hemochromatosis.

摘要

以下先天性代谢缺陷可能出现角膜改变

A. 影响角膜上皮的先天性代谢缺陷：（1）家族性自主神经功能异常，（2）Ⅱ型酪氨酸血症，（3）法布里糖脂贮积症。B. 影响角膜基质的先天性代谢缺陷：I. 局限性淀粉样变性（角膜格子状营养不良），II. 碳水化合物代谢缺陷：（1）局限性黏多糖贮积症（角膜斑状营养不良），（2）全身性黏多糖，（3）糖原贮积病。III. 脂质代谢缺陷：（1）局限性（施奈德结晶状角膜营养不良），（2）全身性形式（高脂蛋白血症、低脂蛋白血症、卵磷脂胆固醇酰基转移酶缺乏症、沃尔曼病、戈谢病）。IV. 脂质和碳水化合物代谢联合缺陷（黏脂贮积症）。V. 其他遗传性代谢障碍：（1）氨基酸代谢病（胱氨酸病、威尔逊病、褐黄病、切迪阿克 - 东综合征），（2）血色素沉着症。