伴有高鸟氨酸血症、胱氨酸尿症和赖氨酸尿症的脉络膜和视网膜回旋状萎缩，对维生素B6有反应。
Gyrate atrophy of the choroid and retina with hyperornithinemia, cystinuria and lysinuria responsive to vitamin B6.
作者信息
Tanzer Fatos, Firat Mehtap, Alagoz Meral, Erdogan Haydar
机构信息
Department of Pediatric Metabolism, Cumhuriyet University Medical Faculty, Sivas, Turkey.
出版信息
BMJ Case Rep. 2011 Mar 15;2011:bcr0720103200. doi: 10.1136/bcr.07.2010.3200.
Abstract
In this report, an 8-year-old girl is presented with the complaint of progressive night blindness. The authors have performed eye funduscopy, which showed chorioretinal atrophy in gyrate shape. A high level of plasma ornithine was determined. Urinary excretion of ornithine as well as lysine and cystine were increased. Patient was treated with high dose pyridoxine supplement (500 mg/dl). The night blindness condition of the patient improved. After 1 month of pyridoxine therapy ornithine level of her plasma was successfully reduced and blindness improved.
摘要
在本报告中，一名8岁女孩因进行性夜盲症前来就诊。作者进行了眼底检查，结果显示为回旋状脉络膜视网膜萎缩。测定血浆鸟氨酸水平升高。鸟氨酸以及赖氨酸和胱氨酸的尿排泄量增加。患者接受了高剂量维生素B6补充剂治疗（500毫克/分升）。患者的夜盲症病情有所改善。维生素B6治疗1个月后，她血浆中的鸟氨酸水平成功降低，失明情况得到改善。
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