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A novel mutation in the SLC19A2 gene in a Turkish male with thiamine-responsive megaloblastic anemia syndrome.
Odaman-Al, Isik; Gezdirici, Alper; Yildiz, Melek; Ersoy, Gizem; Aydogan, Gönül; Salcioglu, Zafer; Tahtakesen, Tuba Nur; Önal, Hasan; Küçükemre-Aydin, Banu.
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  • Odaman-Al I; Departments of Pediatric Hematology and Oncology, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul, Turkey.
  • Gezdirici A; Departments of Medical Genetics, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul, Turkey.
  • Yildiz M; Departments of Pediatric Endocrinology, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul, Turkey.
  • Ersoy G; Departments of Pediatric Hematology and Oncology, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul, Turkey.
  • Aydogan G; Departments of Pediatric Hematology and Oncology, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul, Turkey.
  • Salcioglu Z; Departments of Pediatric Hematology and Oncology, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul, Turkey.
  • Tahtakesen TN; Departments of Pediatric Hematology and Oncology, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul, Turkey.
  • Önal H; Departments of Pediatric Metabolic, Diseases, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul, Turkey.
  • Küçükemre-Aydin B; Departments of Pediatric Endocrinology, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul, Turkey.
Turk J Pediatr ; 61(2): 257-260, 2019.
Article en En | MEDLINE | ID: mdl-31951337
Odaman-Al I, Gezdirici A, Yildiz M, Ersoy G, Aydogan G, Salcioglu Z, Tahtakesen TN, Önal H, Küçükemre-Aydin 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.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas de Transporte de Membrana / Deficiencia de Tiamina / ADN / Diabetes Mellitus / Pérdida Auditiva Sensorineural / Anemia Megaloblástica / Mutación Límite: Child, preschool / Female / Humans / Male País/Región como asunto: Asia Idioma: En Revista: Turk J Pediatr Año: 2019 Tipo del documento: Article País de afiliación: Turquía Pais de publicación: Turquía
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas de Transporte de Membrana / Deficiencia de Tiamina / ADN / Diabetes Mellitus / Pérdida Auditiva Sensorineural / Anemia Megaloblástica / Mutación Límite: Child, preschool / Female / Humans / Male País/Región como asunto: Asia Idioma: En Revista: Turk J Pediatr Año: 2019 Tipo del documento: Article País de afiliación: Turquía Pais de publicación: Turquía