Thiamine‐responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness

AKINCI A., TEZİÇ T., ERTÜRK G., TARIM Ö., DALVA K.

Pediatrics International, cilt.35, sa.3, ss.262-266, 1993 (Scopus) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 35 Sayı: 3
  • Basım Tarihi: 1993
  • Doi Numarası: 10.1111/j.1442-200x.1993.tb03049.x
  • Dergi Adı: Pediatrics International
  • Derginin Tarandığı İndeksler: Scopus
  • Sayfa Sayıları: ss.262-266
  • Anahtar Kelimeler: deafness, diabetes mellitus, megaloblastic anemia, thiamine
  • Ankara Üniversitesi Adresli: Evet

Özet

This study introduces a patient who has thiamine and thiamine pyrophosphokinase (TPKase) enzyme deficiency associated with diabetes mellitus, sensorineural deafness and thiamine‐responsive megaloblastic anemia. Diabetes mellitus was diagnosed when she was 20 months old. After 1 year, macrocytic anemia developed and the thiamine therapy was started at 75 mg/day. During the follow‐up, the insulin requirement decreased and even ceased, and macrocytic anemia improved with thiamine treatment. After thiamine therapy was ceased an increase in insulin requirement was observed and macrocytic anemia developed again. 1993 Japan Pediatric Society