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  • Title: [IMERSLUND-GRÄSBECK SYNDROME CONGENITAL FORM OF VITAMIN B12 DEFICIENCY ANEMIA].
    Author: Kvezereli-Kopadze M, Mtvarelidze Z.
    Journal: Georgian Med News; 2019 May; (290):45-48. PubMed ID: 31322513.
    Abstract:
    Normal red blood cells maturation depends on many different hematological factors, including vitamin (vit.) B12. Megaloblastic anemias are basically caused by vit. B12 deficiency. In childhood the deficiency of this vitamin is extremely rare. The article captures findings of observation of the patient with rare form congenital vit. B12 deficiency anemia - Imerslund-Gräsbeck syndrome. The disease is characterized with selective intestinal malabsorption of vit. B12 and permanent proteinuria, without sings of kidney disease. The diagnosis was confirmed by our team in early childhood and based on the history, clinical and paraclinical data. After two weeks of specific treatment with vit. B12 , complete clinical - hematological remission was achieved. Treatment includes lifelong vit. B12 injections once per month. Cathamnesic observation for 18 months revealed that the patient is in remission, but there was continued macrocytosis of red blood cells and mild proteinuria. The presented case is interesting as a rare case of megaloblastic anemia caused by vit. B12 deficiency in childhood. Such patients often treated under different diagnosis. In such cases early diagnosis, treatment and prevention are crucial for the good prognosis.
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