Aster MIMS, Kozhikode, Kerala, India.
Natl Med J India. 2023 Sep-Oct;36(5):314-315. doi: 10.25259/NMJI_20_21.
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.
我们报告了一例 26 岁的女孩，她在童年时被诊断患有糖尿病，并接受胰岛素治疗。她在童年时曾出现视力障碍和贫血，部分进行了评估；考虑到综合征性糖尿病的可能性。进行了基因分析，发现 SLC19A2 基因的突变，确诊为硫胺素反应性巨幼细胞性贫血。她接受了硫胺素补充治疗，这显著改善了她的血红蛋白水平和血糖控制。然而，她的视力无法恢复，因为视杆-视锥营养不良是一种永久性损伤。
