A novel mutation in the SLC19A2 gene in a Turkish male with thiamine-responsive megaloblastic anemia syndrome

被引：4

作者：

Odaman-Al, Isik ^{[1
]}

Gezdirici, Alper ^{[2
]}

Yildiz, Melek ^{[3
]}

Ersoy, Gizem ^{[1
]}

Aydogan, Gonul ^{[1
]}

Salcioglu, Zafer ^{[1
]}

Tahtakesen, Tuba Nur ^{[1
]}

Onal, Hasan ^{[4
]}

Kucukemre-Aydin, Banu ^{[3
]}

机构：

[1] Kanuni Sultan Suleyman Training & Res Hosp, Dept Pediat Hematol & Oncol, Istanbul, Turkey

[2] Kanuni Sultan Suleyman Training & Res Hosp, Dept Med Genet, Istanbul, Turkey

[3] Kanuni Sultan Suleyman Training & Res Hosp, Dept Pediat Endocrinol, Istanbul, Turkey

[4] Kanuni Sultan Suleyman Training & Res Hosp, Dept Pediat Metab Dis, Istanbul, Turkey

来源：

TURKISH JOURNAL OF PEDIATRICS | 2019年 / 61卷 / 02期

关键词：

thiamine-responsive megaloblastic anemia; thrombocytopenia; diabetes mellitus; SLC19A2; mutation; DEAFNESS;

D O I：

10.24953/turkjped.2019.02.015

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

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.

引用

页码：257 / 260

页数：4

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