ABSTRACT
Type 1 diabetes mellitus ( T1DM),arising through a complex interaction of immune,genetic and environmental factors,results from autoimmune destruction of insulin-producing β cells.In up to one third of patients the autoimmune attack is not limited to β cells,but expands into autoimmune polyendocrine syndromes(APS).APS are characterized by functional insufficiency of multiple endocrine organs due to an immunologically mediated destructive process.APS can commonly be divided into three types,including APS type Ⅰ,APS type Ⅱ and immune dysregulation,polyendocrinopathy,enteropathy,X-Linked syndrome (IPEX).Here,we discuss the susceptible factors,clinical manifestation,screening and treatment of APS,with the perspective of the clues they can offer to the pathogenesis and treatment of type 1 diabetes mellitus.
ABSTRACT
Myasthenia gravis and Graves disease are autoimmune diseases that can coexist in the same patient. We report a 18 years old female with a history of myasthenia gravis diagnosed at the age of six, treated with neostigmine and prednisone. She starts with palpitations, dyspnea, proximal muscle weakness and exophthalmos appearing seven months after the onset of symptoms. She was admitted to the hospital due to her decompensated hyperthyroidism. After admission, she develops a myasthenic crisis, that requires mechanical ventilation. Afterwards, the patient is subjected to a thymectomy and thyroidectomy with a good postoperative evolution.
Subject(s)
Humans , Adolescent , Female , Graves Disease/complications , Myasthenia Gravis/complications , Graves Disease/surgery , Graves Disease/drug therapy , Myasthenia Gravis/surgery , Myasthenia Gravis/drug therapy , Thymectomy , Thyroidectomy , Treatment OutcomeABSTRACT
Três entidades clínicas distintas, causadas por desarranjos genéticos, estão associadas a múltiplas desordens auto-imunes: síndrome linfoproliferativa auto-imune, poliendocrinopatias auto-imunes (APSs) e desregulação imune, poliendocrinopatia, enteropatia ligada ao X (IPEX). O diabetes melito auto-imune ou tipo 1 (DM1) pode estar presente nas APSs e na IPEX. A APS-1 caracteriza-se pela associação de candidíase crônica, hipoparatireoidismo e insuficiência adrenal auto-imune ou idiopática (doença de Addison), no entanto, o diabetes melito tipo 1 pode estar presente em até 12 por cento dos casos. A APS-2 inclui a doença de Addison (sempre presente), a doença tireoidiana auto-imune e o diabetes melito tipo 1, enquanto na APS-3 a doença tireoidiana se associa a outra doença imunológica, excluindo a insuficiência adrenal e o hipoparatireoidismo, e a APS-4 é composta por combinações diferentes das descritas anteriormente. Já a IPEX caracteriza-se por alteração rara da regulação auto-imune que resulta doenças auto-imunes de início precoce, envolvendo pâncreas, tireóide, intestino com diarréia secretora grave, eczema e anemia. O diagnóstico e o tratamento das doenças componentes das poliendocrinopatias e da IPEX são semelhantes ao da patologia na forma isolada.
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.