Unusual Cause of Childhood Anemia: Imerslund Grasbeck Syndrome

Autor: Kishan Prasad Hosapatna Laxminarayana, Sunil Kumar Yeshvanth, Jayaprakash K Shetty, Harish S Permi, Chandrika Rao
Jazyk: angličtina
Rok vydání: 2011
Předmět:
Zdroj: Journal of Laboratory Physicians, Vol 3, Iss 02, Pp 113-115 (2011)
Druh dokumentu: article
ISSN: 0974-2727
0974-7826
DOI: 10.4103/0974-2727.86845
Popis: Imerslund Grasbeck syndrome (IGS) is a rare autosomal recessive childhood disorder characterized by selective Vitamin (vit) B 12 malabsorption with asymptomatic proteinuria without any structural renal pathology. The patients stay healthy for decades with life-long parenteral vit B12. We report a case of young female who presented with pancytopenia and proteinuria, evaluated in local hospitals as chronic hemolytic anemia (autoimmune cause), finally diagnosed as IGS on complete evaluation. She was treated with injectable vit B12 (1000 μg cyanocobalalmin) and showed drastic recovery. IGS should be considered in patients with megaloblastic anemia not responding to oral vit B12 and associated proteinuria.
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