Endres W, Shin Y S
Universitäts-Kinderklinik, München, FRG.
J Inherit Metab Dis. 1990;13(4):509-16. doi: 10.1007/BF01799508.
In addition to the already recognized metabolic diseases which have been associated with cataract formation, e.g. galactosaemia, galactokinase deficiency, Lowe's syndrome and diabetes, several other disorders can also lead to the development of cataracts. They are sorbitol dehydrogenase deficiency, uridine diphosphate galactose-4-epimerase deficiency, marginal maternal transferase and galactokinase deficiency, galactitol and sorbitol accumulation of unknown origin, heterozygosity for galactosaemia and galactokinase deficiency as well as the carrier state for Lowe's syndrome. In this review these metabolic disorders have been divided into five groups according to the age at the first appearance of lens clouding and the possible means of treatment have been discussed.
除了已经确认的与白内障形成相关的代谢疾病,如半乳糖血症、半乳糖激酶缺乏症、洛氏综合征和糖尿病外,其他几种病症也可导致白内障的发生。它们是山梨醇脱氢酶缺乏症、尿苷二磷酸半乳糖-4-表异构酶缺乏症、边缘性母体转移酶和半乳糖激酶缺乏症、不明来源的半乳糖醇和山梨醇蓄积、半乳糖血症和半乳糖激酶缺乏症的杂合性以及洛氏综合征的携带者状态。在本综述中,这些代谢紊乱根据晶状体混浊首次出现的年龄分为五组,并讨论了可能的治疗方法。