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.

Síndrome poliglandular autoinmune tipo 1 y mutación C322fsX372

“…4 Además de este gen, se ha asociado el SPA con un aumento de la frecuencia HLA-A28, HLA-A3 y HLA-DQ6 con respecto a la población general. 12,13 Para el diagnóstico de la enfermedad se requieren al menos dos de las 3 manifestaciones principales (candidiasis, EA o hipoparatiroidismo). 3 Sin embargo, en el estudio de familiares de pacientes afectos, sólo se requiere una de ellas.…”

Sindrome poliglandular autoinmune tipo II en el Hospital Universitario del Caribe, Cartagena, Colombia.

“…Es importante realizar anamnesis y un examen físico completos, determinar glucosa en ayunas, anticuerpos citoplasmáticos contra las células de los islotes, TSH, tiroxina en sangre y niveles de cortisol (38). Se debe recordar que pueden transcurrir incluso 20 años desde el diagnóstico de una endocrinopatía y la aparición de otra acompañante, por ello por ello es obligatorio plantear un adecuado seguimiento (27,39).…”