title: [Type 1 diabetes and autoimmune polyendocrine syndromes].
abstract: Type 1 diabetes (T1D) is associated with autoimmune thyroid disease (AIT), celiac disease (CD), Addison's disease (AD), and other autoimmune diseases. These diseases can occur simultaneously in defined syndromes with distinct pathophysiology and characteristics: autoimmune polyendocrine syndromes (APSs) and the immunodysregulation polyendocrinopathy enteropathy X-linked syndrome (IPEX). APSs were initially defined as a multiple endocrine gland insufficiency associated to an autoimmune disease in a patient. APS-1 is characterized by the evidence of chronic candidiasis, chronic hypoparathyroidism, AD and T1D could be present as part of this syndrome. The combination of autoimmune adrenal insufficiency with AIT and/or type 1 autoimmune diabetes mellitus defines APS-2. AIT associated to other autoimmune diseases (excluding AD and/or hypoparathyroidism) are the main characteristics of APS-3. Different clinical combinations of autoimmune diseases which were not included in the previous groups are the characteristics of APS-4. IPEX is a recessive disorder characterized by the neonatal onset of T1D, infections, enteropathy, thrombocytopenia and anemia, as well as endocrinopathy, eczema and cachexia. These disorders are not common, but their consequences can be life threatening when the diagnosis is overlooked, and the treatment is the same prescribed for isolated disease presentation.
authors.affiliation: Laboratório de Investigação Médica - 25 (LIM-25), Hospital das Clínicas, Faculdade de Medicina, Universidade São Paulo, São Paulo, SP, Brasil. marciasqz@gmail
authors.forename: Márcia S
authors.initials: MS
authors.lastname: Queiroz
mesh_terms: D000224:Addison Disease / Q000150:complications / Q000276:immunology; D000328:Adult; D002446:Celiac Disease / Q000150:complications / Q000276:immunology; D002908:Chronic Disease; D003922:Diabetes Mellitus, Type 1 / Q000150:complications* / Q000276:immunology; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000150:complications / Q000276:immunology; D006801:Humans; D008297:Male; D016884:Polyendocrinopathies, Autoimmune / Q000150:complications* / Q000276:immunology; D011504:Protein-Losing Enteropathies / Q000150:complications / Q000276:immunology; D013577:Syndrome