Volume : IV, Issue : II, February - 2015

IMERSLUND GRASBECK SYNDROME

Dr. P. Palani Rajan, Dr. A. Kannan, Dr. Uma Muralidharan

Abstract :

Imerslund Grasbeck syndrome (IGS) is a rare disorder that is inherited autosomally recessive which is characterized by selective malabsorption of Vitamin B12 with asymptomatic proteinuria with no structural renal pathology(1). Usually the affected children are asymptomatic at birth but starts manifesting later in infancy to several years after birth. It is caused due to a defect in the receptor of the vitamin B12-intrinsic factor complex of the ileal enterocyte. Selective malabsorption of Vitamin B12 and proteinuria is due to the mutation in one of two genes, cubilin(CUBN) on chromosome 10 or amnionless (AMN) on chromosome 14.Both these proteins are components of vitamin B12-intrinsic factor complex receptors in ileum and the receptor that mediates tubular reabsorption of protein from the primary urine(2).IGS may also manifest with failure to thrive and grow, infections and neurological damage. We report here a case of a 2 year old female child referred to our hospital as a case of anemia for evaluation for past 6 months in nearby hospitals, finally diagnosed as IMERSLUND GRASBECK SYNDROME after workup. She was treated with vitamin B12 injection 1000 microgram intramuscularly for which the child showed good improvement. IGS should be suspected in any case of anemia with proteinuria not responding to oral vitB12. KEYWORDS - : Imerslund grasbeck syndrome, dimorphic anemia, cubulin and amnionless genes

Keywords :

Article: Download PDF   DOI : 10.36106/ijsr  

Cite This Article:

Dr.P.PALANI RAJAN, Dr.A.KANNAN, Dr. UMA MURALIDHARAN IMERSLUND GRASBECK SYNDROME International Journal of Scientific Research, Vol : 4, Issue : 2 February 2015

Number of Downloads : 1577

References :