硫胺素反应性巨幼红细胞贫血症

Vimal Mavila Veetil, Divya Pachat, K Nikitha, Jesheera Mohammed Kutty
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引用次数: 0

摘要

我们报告了一名 26 岁的女孩,她在童年时被诊断出患有糖尿病,并接受了胰岛素治疗。她在童年时曾有过视力障碍和贫血的病史,对贫血进行了部分评估;考虑到综合糖尿病的可能性。经过基因分析,发现 SLC19A2 基因发生了突变,确诊为硫胺素反应性巨幼红细胞贫血症。她接受了硫胺素补充治疗,血红蛋白水平和血糖控制都得到了显著改善。然而,她的视力无法挽救,因为杆状核营养不良症是一种永久性损伤。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Thiamine-responsive megaloblastic anaemia.

We report a 26-year-old girl who was diagnosed with diabetes mellitus in her childhood and was treated with insulin. With a history of visual disturbances during her childhood and anaemia, which was partially evaluated; the possibility of syndromic diabetes was considered. Genetic analysis was done and revealed a mutation in the SLC19A2 gene, confirming the diagnosis of thiamine-responsive megaloblastic anaemia. She was supplemented with thiamine, which dramatically improved her haemoglobin levels and glucose control. However, her vision could not be salvaged as the rod-cone dystrophy is a permanent damage.

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