一名患有硫胺素反应性巨幼细胞贫血综合征的土耳其男性中SLC19A2基因的新型突变。
A novel mutation in the SLC19A2 gene in a Turkish male with thiamine-responsive megaloblastic anemia syndrome.
作者信息
Odaman-Al Işık, Gezdirici Alper, Yıldız Melek, Ersoy Gizem, Aydoğan Gönül, Şalcıoğlu Zafer, Tahtakesen Tuba Nur, Önal Hasan, Küçükemre-Aydın Banu
机构信息
Departments of Pediatric Hematology and Oncology, Kanuni Sultan Suleyman Training and Research Hospital, İstanbul, Turkey.
Departments of Medical Genetics, Kanuni Sultan Suleyman Training and Research Hospital, İstanbul, Turkey.
出版信息
Turk J Pediatr. 2019;61(2):257-260. doi: 10.24953/turkjped.2019.02.015.
Odaman-Al I, Gezdirici A, Yıldız M, Ersoy G, Aydoğan G, Şalcıoğlu Z, Tahtakesen TN, Önal H, Küçükemre-Aydın B. A novel mutation in the SLC19A2 gene in a Turkish male with thiamine-responsive megaloblastic anemia syndrome. Turk J Pediatr 2019; 61: 257-260. Thiamine-responsive megaloblastic anemia (TRMA) is a very rare syndrome characterized by the triad of early onset megaloblastic anemia, sensorineural deafness and diabetes mellitus. Here we report, a 5-year-old boy who presented with transfusion dependent anemia and diabetes mellitus and was diagnosed with TRMA. Besides reporting a novel mutation of the causative gene SLC19A2, we wanted to emphasize this syndrome in the aspect of coexistence of insulin dependent diabetes, transfusion dependent anemia and thrombocytopenia.
奥达曼 - 阿尔I、盖兹迪里西A、伊尔迪兹M、埃尔索伊G、艾多安G、萨尔乔奥卢Z、塔赫塔克森TN、奥纳尔H、屈奇克埃姆雷 - 艾登B。一名患有硫胺素反应性巨幼细胞贫血综合征的土耳其男性中SLC19A2基因的新突变。《土耳其儿科学杂志》2019年；61: 257 - 260。硫胺素反应性巨幼细胞贫血（TRMA）是一种非常罕见的综合征，其特征为早发性巨幼细胞贫血、感音神经性耳聋和糖尿病三联征。在此我们报告一名5岁男孩，他表现为输血依赖型贫血和糖尿病，被诊断为TRMA。除了报告致病基因SLC19A2的新突变外，我们还想强调该综合征在胰岛素依赖型糖尿病、输血依赖型贫血和血小板减少症并存方面的情况。
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