Thiamine-responsive megaloblastic anemia syndrome with Ebstein anomaly: a case report

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• 作者：Mohammad Taghi Akbari (1)
  Shohreh Zare Karizi (2)
  Reza Mirfakhraie (3)
  Bijan Keikhaei (4)
  
• 关键词：Thiamine ; responsive megaloblastic anemia syndrome ; Ebstein anomaly ; SLC19A2 gene ; Mutation
• 刊名：European Journal of Pediatrics
• 出版年：2014
• 出版时间：December 2014
• 年：2014
• 卷：173
• 期：12
• 页码：1663-1665
• 全文大小：89 KB
• 参考文献：1. Aycan Z, Bas VN, Cetinkaya S, Agladioglu SY, Kendirci HN, Senocak F (2011) Thiamine-responsive megaloblastic anemia syndrome with atrial standstill: a case report. J Pediatr Hematol Oncol 33(2):144鈥?47 CrossRef
  2. Baron D, Assaraf YG, Drori S, Aronheim A (2003) Disruption of transport activity in a D93H mutant thiamine transporter 1, from a Rogers Syndrome family. Eur J Biochem 270(22):4469鈥?477 CrossRef
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  4. Diaz GA, Banikazemi M, Oishi K, Desnick RJ, Gelb BD (1999) Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome. Nat Genet 22(3):309鈥?12 CrossRef
  5. Labay V, Raz T, Baron D, Mandel H, Williams H, Barrett T, Szargel R, McDonald L, Shalata A, Nosaka K, Gregory S, Cohen N (1999) Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness. Nat Genet 22(3):300鈥?04 CrossRef
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• 作者单位：Mohammad Taghi Akbari (1)
  Shohreh Zare Karizi (2)
  Reza Mirfakhraie (3)
  Bijan Keikhaei (4)
  
  1. Department of Medical Genetics, Tarbiat Modares University, Al-Ahmad Expressway, Tehran, Iran
  2. Department of Biology, Varamin Pishva Branch, Islamic Azad University, Varamin Pishva, Iran
  3. Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran
  4. Ahvaz Research Center for Thalassemia and Hemoglobinopathy, Ahvaz, Iran
  
• ISSN：1432-1076

文摘

Thiamine-responsive megaloblastic anemia (TRMA) or Roger syndrome is a rare autosomal recessive disorder characterized by the occurrence of multiple clinical manifestations including megaloblastic anemia, diabetes mellitus, and sensorineural deafness. A few patients have been also described with congenital cardiac malformations. The patients usually respond to treatment with pharmacological doses of thiamine. Mutations in the SLC19A2 gene, located at chromosome 1q24.2, are responsible for this syndrome. Here, we present two new Iranian TRMA patients who were homozygous for c.697C > T mutation in the SLC19A2 gene. On follow-up, one of the patients showed Ebstein anomaly. Conclusion: The present study confirms the variability of the clinical manifestations caused by the same mutation within patients with TRMA syndrome. Therefore, follow-up of the affected children should be considered.