Six year old with autoimmune polyglandular syndrome: can genetics tell us the story?
ABSTRACT Children who have diabetes mellitus type 1 (DMT1) are at increased risk of developing other autoimmune diseases. These associated diseases include Hashimoto's thyroiditis, Graves' disease, Celiac disease, and Addison's disease. Since Addison's disease is potentially fatal if undiagnosed and untreated, it would be prudent to effectively screen individuals to determine if they are at risk of developing this disease. We present a case of a 6 year old male with a history of DMT1, who presented in adrenal crisis and was subsequently diagnosed with Addison's disease. HLA-DRB1 404/DR4 is one of the genes involved in the development of Addison's disease in children with DMT1. Our patient later tested positive for this haplotype. Genetic testing is not routinely done in patients with (DMT1) to determine if they will potentially develop other associated conditions. We propose using genetic testing of associated HLA haplotypes to screen children with DMT1 for Addison's disease.
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ABSTRACT: The authors report a rare case of a 5 y old girl with type 2 autoimmune polyglandular syndrome, also called Schmidt syndrome, who presented with diabetic ketoacidosis (DKA) at admission.The Indian Journal of Pediatrics 10/2011; 79(7):949-51. · 0.72 Impact Factor