Background

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.

Case presentation

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.

Conclusions

This is the first report of VAD associated with undernutrition in the Japanese hemodialysis population.

中文翻译：

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日本血液透析患者长期摄入不均衡饮食后维生素 A 缺乏

背景

在工业化国家，维生素 A 缺乏症 (VAD) 极为罕见，除了与减肥手术和肝胆疾病有关。由于维生素 A 结合蛋白的肾小球滤过减少，在血液透析期间发生 VAD 是不寻常的。我们报道了一名 58 岁的日本男性血液透析患者被诊断为 VAD 的病例。

案例展示

接受血液透析超过 15 年的患者出现进行性畏光和夜盲症，并进行了眼科检查。他否认有癌症或肝胆疾病史，并报告说他喜欢吃预先包装好的面条碗和食物，长期少吃水果/蔬菜。他的视力很好。眼底图像显示中周视网膜中有许多白点，但没有退行性变化。在基线全视野视网膜电图 (ERG) 中，视杆 ERG 中的 b 波反应极度降低，标准闪光/强闪光 ERG 中的 a 波幅度降低到我们对照的 20-25%，a- 和 b-锥形 ERG 中的波幅降低到对照组的 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，他被诊断出患有 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水平在正常范围内。全视野ERG显示，与基线相比，暗眼ERG反应显着改善。

结论

这是日本血液透析人群中与营养不良相关的 VAD 的第一份报告。