Thiamine-Responsive Megaloblastic Anemia Syndrome With Atrial Standstill: A Case Report

AYCAN Z., Bas V. N., Cetinkaya S., Agladioglu S. Y., Kendirci H. N. P., Senocak F.

JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY, cilt.33, sa.2, ss.144-147, 2011 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 33 Sayı: 2
  • Basım Tarihi: 2011
  • Doi Numarası: 10.1097/mph.0b013e31820030ae
  • Dergi Adı: JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.144-147
  • Anahtar Kelimeler: thiamine-responsive megaloblastic anemia, atrial standstill, deafness, DIABETES-MELLITUS, SLC19A2 GENE, DEAFNESS, MUTATION, TRANSPORTER, DEFICIENCY
  • Ankara Üniversitesi Adresli: Hayır

Özet

Thiamine-responsive megaloblastic anemia (TRMA) syndrome is an uncommon autosomal recessive disorder. The disease is caused by mutations in the gene, SLC19A2, encoding a high-affinity thiamine transporter, which disturbs the active thiamine uptake into cells. Major features include megaloblastic anemia, diabetes mellitus, and sensorineural deafness. Cardiac malformations with conduction defects and/or dysrhythmias, have also been described in some patients. To our knowledge, only 13 TRMA patients with cardiac defects have been reported. Here, we describe the first case of TRMA syndrome with atrial standstill, probably caused by a 2 base-pair deletion in exon 4 (1147delGT) of the gene SLC19A2.