title: 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.
authors.affiliation: Molly Center for Children, Hackensack University Medical Center, Hackensack, NJ, USA. sghanny@hotmail.com
authors.forename: Steven
authors.initials: S
authors.lastname: Ghanny
authors.forename: Robert
authors.initials: R
authors.lastname: Wallerstein
authors.forename: Amy
authors.initials: A
authors.lastname: Chartoff
authors.forename: Janet
authors.initials: J
authors.lastname: Post
authors.forename: Javier
authors.initials: J
authors.lastname: Aisenberg
authors.forename: Valerie
authors.initials: V
authors.lastname: Auyeung
mesh_terms: D000224:Addison Disease / Q000209:etiology* / Q000235:genetics; D002648:Child; D003922:Diabetes Mellitus, Type 1 / Q000150:complications*; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006684:HLA-DR Antigens / Q000235:genetics*; D015804:HLA-DR4 Antigen / Q000235:genetics*; D059811:HLA-DRB1 Chains; D006239:Haplotypes; D006801:Humans; D008297:Male; D016884:Polyendocrinopathies, Autoimmune / Q000209:etiology* / Q000235:genetics
chemical_list: D006684:HLA-DR Antigens; D015804:HLA-DR4 Antigen; D059811:HLA-DRB1 Chains