Department of Ophthalmology, Katsushika Medical Center, The Jikei University School of Medicine, 6-41-2 Aoto, Katsushika-ku, Tokyo, 125-8506, Japan.
Department of Ophthalmology, The Jikei University School of Medicine, Tokyo, Japan.
Doc Ophthalmol. 2021 Aug;143(1):85-91. doi: 10.1007/s10633-021-09823-1. Epub 2021 Feb 5.
In industrialized countries, vitamin A deficiency (VAD) is extremely rare, except association with bariatric surgeries and hepatobiliary disorders. It is unusual that VAD develops during hemodialysis due to reduced glomerular filtration of vitamin A-binding protein. We reported the case of a 58-year-old Japanese male hemodialysis patient diagnosed with VAD.
The patient undergoing hemodialysis for more than 15 years presented with progressive photophobia and night blindness and was ophthalmologically examined. He denied a history of cancer or hepatobiliary disease and reported that he loved eating prepackaged noodle bowls and foods, with prolonged low intake of fruits/vegetables. He had good visual acuity. Fundus images showed numerous white dots in the midperipheral retinae, but no degenerative changes. In baseline full-field electroretinography (ERG), b-wave responses were extremely reduced in rod ERG, a-wave amplitudes in standard-flash/strong-flash ERG were reduced to 20-25% of our controls, a- and b-wave amplitudes in cone ERG were reduced to 40-50% of the controls. Whole-exome sequencing identified no pathogenic variant for any inherited retinal disorder. He was diagnosed with VAD because of reduced serum vitamin A levels and treated with retinol palmitate. Two months after treatment commencement, the serum vitamin A level was within the normal range. Full-field ERG showed that the scotopic ERG responses markedly improved compared with baseline.
This is the first report of VAD associated with undernutrition in the Japanese hemodialysis population.
在工业化国家,除了与减肥手术和肝胆疾病有关外,维生素 A 缺乏症(VAD)极为罕见。由于维生素 A 结合蛋白的肾小球滤过减少,VAD 在血液透析过程中很少发生。我们报告了一例 58 岁日本男性血液透析患者 VAD 的病例。
该患者接受血液透析治疗超过 15 年,出现进行性畏光和夜盲,并接受了眼科检查。他否认有癌症或肝胆疾病史,并报告说他喜欢吃预包装的面条碗和食物,水果/蔬菜摄入时间长且摄入量低。他视力良好。眼底图像显示在周边视网膜中有许多白点,但没有退行性改变。在基线全视野视网膜电图(ERG)中,杆状 ERG 的 b 波反应极低,标准闪光/强闪光 ERG 的 a 波幅度降低到我们对照组的 20-25%,锥状 ERG 的 a 和 b 波幅度降低到对照组的 40-50%。全外显子组测序未发现任何遗传性视网膜疾病的致病变异。由于血清维生素 A 水平降低,他被诊断为 VAD,并接受了视黄醇棕榈酸酯治疗。治疗开始后两个月,血清维生素 A 水平恢复正常。全视野 ERG 显示,与基线相比,暗适应 ERG 反应明显改善。
这是首例与日本血液透析人群营养不良相关的 VAD 报告。