[遗传性尿苷二磷酸半乳糖-4-表异构酶缺乏症所致幼儿白内障——病例报告]
[Early childhood cataract in hereditary UDP-galactose-4-epimerase deficiency--a case report].
作者信息
Viestenz A, Gusek-Schneider G C, Jünemann A G, Shin Y S, Naumann G O
机构信息
Augenklinik mit Poliklinik der Universität Erlangen-Nürnberg, Schwabachanlage 6, 91054 Erlangen.
出版信息
Klin Monbl Augenheilkd. 2001 Feb;218(2):121-4. doi: 10.1055/s-2001-12256.
BACKGROUND
Increased plasma galactitol levels may lead to development of bilateral pediatric cataract.
PATIENT
A 3-year-old boy was found to suffer from a bilateral zonular cataract. Extracapsular lensectomy with posterior capsulotomy, transpupillar anterior vitrectomy and posterior chamber lens implantation were performed during a 4-month-interval.
RESULTS
The epimerase-activity in red cells of the index patient was found to be significantly decreased (11.2 mumol/h/g Hb; normal range; 19-35). From other family members, such as the brother (16.8), the father (16.0) and the grandfather (15.6), a diminished red cell activity was observed. The mother whose epimerase activity was considerably lower than that of the above mentioned family members (13.3) showed also a zonular bilateral cataract.
CONCLUSIONS
Investigation of enzymes and polyols of galactose metabolism as well as consultation of the concerned families are recommended for clarification of cataract development.
背景
血浆半乳糖醇水平升高可能导致小儿双侧白内障的发生。
患者
一名3岁男孩被发现患有双侧 zonular 白内障。在4个月的间隔期内进行了囊外晶状体切除术联合后囊切开术、经瞳孔前路玻璃体切除术和后房型人工晶状体植入术。
结果
发现该索引患者红细胞中的表异构酶活性显著降低（11.2 μmol/h/g Hb；正常范围：19 - 35）。在其他家庭成员中，如兄弟（16.8）、父亲（16.0）和祖父（15.6），观察到红细胞活性降低。表异构酶活性明显低于上述家庭成员（13.3）的母亲也患有双侧 zonular 白内障。
结论
建议对半乳糖代谢的酶和多元醇进行研究，并咨询相关家庭，以明确白内障的发病机制。
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