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: Autoimmune polyglandular syndrome is a polyendocrinopathy characterized by failure of some endocrine glands as well as nonendocrine organs, caused by actions of the immune system on endocrine tissues. It has been described two groups and at least two or three variants of them. Autoimmune polyglandular autoimmune syndrome type II is the most common autoimmune endocrinopathy that is characterized mainly by presence of Addison’s disease in combination with autoimmune thyroid disease or type I diabetes mellitus. We review the topic and immunogenetics and etiopathological bases and present a case series. The incidence is 1.2/100.000. The most common finding was Addison’s disease plus autoimmune thyroiditis (80%) and the second most frequent association was thyroiditis with pernicious anemia (60%). It is important to note the high frequency of vitamin B12 deficiency in patients with severe neuronal impairment. It may take up to twenty years between diagnosis of an endocrine disease and emergence of another disease. It is the duty to perform diagnostic tests to evaluate hormonal function correlated with an endocrinopathy until senescence. Rev.cienc.biomed. 2011; 2 (1): 54-62
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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. DOI:10.1007/s12098-011-0575-x
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ABSTRACT: Polyglandular autoimmune syndromes are rare diseases based on autoimmune mechanisms in which endocrine and non-endocrine disorders coexist. In type 1 the characteristic manifestations are chronic mucocutaneous candidiasis, hypoparathyroidism and adrenal insufficiency. A case is presented of a patient with typical clinical sequence, along with other changes, and in whom a mutation in homozygosis, C322fsX372, was detected after performing a molecular analysis of autoimmunity regulator gene (AIRE). Inheritance is autosomal recessive, associated with mutations in the AIRE gene, which encodes a protein involved in autoimmunity and immunodeficiency. For diagnosis, At least two of the three major clinical manifestations are required for a diagnosis. However, only one of them is necessary in the study of relatives of affected patients. These syndromes must be diagnosed early, given their high morbidity and mortality. Every manifestation needs to be treated, in order to maintain the quality of life.Anales de Pediatría 01/2014; DOI:10.1016/j.anpedi.2014.01.012