Diabetes tipo 1 y Miastenia Gravis / Type-1 Diabetes and Myasthenia Gravis

Introducción: El desarrollo de la tolerancia inmunológica frente a los autoantígenos se denomina autotolerancia. La Diabetes Mellitus tipo 1A (1ADM) es un trastorno metabólico secundario a la destrucción autoinmune de las células beta pancreáticas e insulitis. La miastenia grave (MG) es una enfermedad autoinmune causada por el bloqueo postsináptico de la placa mioneural por AAcs contra los receptores de acetilcolina (ACRA) o contra moléculas de la membrana postsináptica. La asociación entre DM1A y MG se puede observar en el síndrome poliglandular tipo III, caracterizado por enfermedad autoinmune de la glándula tiroides asociada con otras entidades autoinmunes. Método: Reporte de Casos, cuatro pacientes entre 7-19 años, con asociación de MG y DM1A atendidos en el Hospital Garrahan. Conclusión: La Tiroiditis de Hashimoto y la Enfermedad Celíaca son las enfermedades autoinmunes relacionadas más frecuentemente con DM1A en nuestra población. La bibliografía describe la asociación de MG y Tiroiditis de Hashimoto y su coexistencia con DM1A se describe en el Síndrome Poliglandular III. En este trabajo presentamos 4 casos de DM1A asociado con MG fuera de dicho síndrome (AU)

Introduction: The development of immune tolerance to autoantibodies (AAbs) is referred to as self-tolerance. Type 1A Diabetes Mellitus (1ADM) is a metabolic disorder secondary to autoimmune destruction of pancreatic beta cells and insulitis. Myasthenia gravis (MG) is an autoimmune disease caused by postsynaptic blockade of the myoneural plate by AAbs against acetylcholine receptors (Acra) or against postsynaptic membrane molecules. The association between 1ADM and MG may be observed in polyglandular syndrome type III, characterized by autoimmune disease of the thyroid associated with other autoimmune conditions. Methods: Case report; four patients between 7-19 years old, with an association of MG and 1ADM seen at the Garrahan Hospital. Conclusion: Hashimoto's thyroiditis and celiac disease are autoimmune diseases most frequently related to 1ADM in our population. In the literature, the association of MG and Hashimoto's thyroiditis has been described and its coexistence with 1ADM is reported in polyglandular syndrome III. In this study we present 4 cases of 1ADM associated with MG unrelated to this syndrome. (AU)

Autoimmune Polyglandular Syndrome type 2

SUMMARY Autoimmune polyglandular syndrome type 2 (APS 2) is defined by the presence of Addison's disease (AD) associated with autoimmune thyroid disease and/or Type 1 diabetes mellitus (T1DM). It is a rare disease, affecting about 1.4-2 cases/100,000 inhabitants. Its less frequent clinical presentation is the combination of AD, Graves' disease, and T1DM. We present the case of a 42-year-old woman with a history of total thyroidectomy due to Graves' disease, type 2 diabetes mellitus, and hypertension, who sought the ED due to asthenia, dizziness, nausea, and vomiting. She reported having stopped antihypertensive therapy due to hypotension and presented a glycemic record with frequent hypoglycemia. On physical examination, she had cutaneous hyperpigmentation. She had no leukocytosis, anemia, hypoglycemia, hyponatremia or hyperkalemia, and a negative PCR. Serum cortisol <0.5 ug/dl (4,3-22,4), urine free cortisol 9 ug/24h (28-214), ACTH 1384 pg/mL (4,7-48,8), aldosterone and renin in erect position of 0 pg/ml (41-323) and 430.7 uUI/ml (4.4-46.1) respectively. Quantiferon TB was negative; computerized axial tomography of the adrenals showed no infiltrations, hemorrhage, or masses. The 21-hydroxylase antibody assay was positive. B12 vitamin was normal, anti-GAD antibodies were positive, anti-insulin, anti-IA2, and anti-transglutaminase antibodies were all negative. The patient started insulin therapy and treatment for AD with prednisolone and fludrocortisone with good clinical response. This case aims to alert to the need for high clinical suspicion in the diagnosis of AD. Since this is a rare autoimmune disease, it is important to screen for other autoimmune diseases in order to exclude APS.

RESUMO A síndrome poliglandular autoimune tipo 2 (SPGA2) é definida pela presença de doença de Addison (DA) associada à doença tiroideia autoimune e/ou diabetes mellitus tipo 1 (DMT1). Trata-se de uma doença rara, afetando cerca de 1,4-2 casos/100.000 habitantes. A apresentação clínica menos frequente é a combinação de DA, doença de Graves e DMT1. Apresenta-se mulher de 42 anos, com antecedentes de tiroidectomia total por doença de Graves, diabetes mellitus tipo 2 e hipertensão, que recorre ao SU por quadro arrastado de astenia, emagrecimento, tonturas, náuseas e vômitos. Referia ter suspendido terapêutica anti-hipertensora por hipotensão e apresentava registro glicêmico com hipoglicemias frequentes. Ao exame físico, salientava hiperpigmentação cutânea. Analiticamente sem leucocitose, anemia, hipoglicemia, hiponatremia ou hipercaliemia, PCR negativa. Cortisol sérico matinal <0,5 ug/dl (4,3-22,4), cortisol livre na urina 9 ug/24h (28-214), ACTH 1.384 pg/mL (4,7-48,8), aldosterona e renina em posição ereta de 0 pg/mL (41-323) e 430,7 uUI/mL (4,4-46,1), respectivamente. Realizado estudo complementar para averiguar causa de insuficiência suprarrenal primária. Quantiferon TB negativo, tomografia axial computadorizada das suprarrenais sem infiltrações, hemorragia ou massas. Anticorpos anti-21-hidroxilase positivos. Foi aprofundada a investigação com vitamina B12 normal, anti-GAD positivo, anti-insulina, anti-IA2, antitransglutaminase, negativos. Nesse contexto, a doente iniciou insulinoterapia e tratamento dirigido para a DA com prednisolona e fludrocortisona, com boa resposta clínica. Este caso tem como objetivo alertar para a necessidade de elevada suspeição clínica no diagnóstico de DA. Sendo esta uma doença autoimune rara, é importante rastrear outras doenças autoimunes no sentido de excluir SPGA.

Síndrome poliglandular autoinmune tipo iii c: reporte de caso / Autoimmune polyglandular syndrome type iiic: case report

El síndrome poliglandular autoinmune comprende un grupo de enfermedades autoinmunes de las glándulas endócrinas, y que afecta órganos no endócrinos, puede ser de tipo I, II y III. Paciente masculino de 26 años presenta palpitaciones, debilidad, y disnea de esfuerzos de 2 meses de evolución. Al examen físico, índice de masa corporal 29,6 kg/m², obesidad central, con acromía en cara, axilas y cuello. Los estudios muestran TSH 0,01 uUl/ml,T4 libre 3,67 ng/dl, antitiroperoxidasa 505,70 Ul/ml, insulina en ayunas 32,77 U/l, y a las 2 horas 77 U/l, glicemia en ayunas 101 mg/dl, curva tolerancia oral a la glucosa a las 2 horas de 140 mg/dl. La ecografía tiroidea revela bocio multinodular. Diagnósticos: tiroiditis autoinmune, vitíligo, prediabetes, sobrepeso. Manejo con metimazol 5 mg c/12 h, y metformina 850 mg en la noche. El paciente baja de peso y la glicemia mejora. El diagnóstico definitivo fue Tiroiditis autoinmune y vitíligo compatible con síndrome poliglandular tipo IIIC.

Autoimmune Polyglandular Syndrome comprises a group of autoimmune diseases of the endocrine glands, and affecting non-endocrine organs, there are type I, II and III. Male patient, aged 26 years old has palpitations, weakness, and exertional dyspnea for 2 months. The physical examination found body mass index 29,6 kg/m², central obesity, with acromia on face, armpits and neck. Studies show TSH 0,01 uUl/ml, freeT4 3,67 ng/dl, antithyroperoxidase 505,70 U/ml, fasting insulin 32,77 U/l, after 2 hours 77 U/l, fasting glycemia 101 mg/dl, glucose tolerance at 2 hours 140 mg/dl. Thyroid ultrasound reveals multinodular goiter. Diagnoses: autoimmune thyroiditis, vitiligo, prediabetes, overweight. It prescribed metimazole 5 mg every 12 hours, and metformin 850 mg at night. Patient with weight reduction and glucose improvement. Definitive diagnoses patient with autoimmune thyroiditis and vitiligo, compatible with polyglandular syndrome type IIIC.

Hipoparatiroidismo primario de presentación tardía asociado a patologías autoinmunes / Late onset primary hypoparathyroidism associated with autoimmune disorders

Se presenta una paciente que, en la sexta década de su vida, debuta con episodios de espasmo carpopedal espontáneo. Los valores bajos de calcemia (6,1 mg/dl) y de PTH (8 pg/ml) confirmaron el diagnóstico de hipoparatiroidismo. No había sido sometida a cirugías de cuello ni radioterapia. No existían antecedentes familiares vinculantes. Durante 11 años de seguimiento, la paciente presenta asociación con otras patologías que permiten sospechar la etiología autoinmune del hipoparatiroidismo: candidiasis de piel y uñas, hipotiroidismo por tiroiditis de Hashimoto, penfigoide y psoriasis. Finalmente fallece por una neumonía adquirida en la comunidad, complicada. (AU)

A patient who develops hypoparathyroidism during her sixth decade of life is reported. It was detected due to spontaneous carpopedal spasms. Low calcium (6.1 mg/dl) and PTH (8 pg/ml) levels confirmed the diagnosis. She had not undergone neck surgery or irradiation. There was no relevant family history. Throughout the 11 years follow up she presented association of other pathologies that allow the suspicion of autoimmune etiology of hypoparathyroidism: candidiasis of skin and nails, autoimmune thyroiditis, pemphigoid and psoriasis. She eventually died of complicated community-acquired pneumonia. (AU)

Rastreio de síndrome poliglandular autoimune em uma população de pacientes com diabetes melito tipo 1 / Screening for autoimmune polyglandular syndrome in a cohort of patients with type 1 diabetes mellitus

OBJETIVO: Caracterizar uma população de pacientes com diabetes melito tipo 1 (DMT1) relativamente à presença de outras entidades autoimunes que permitam estabelecer o diagnóstico de síndrome poliglandular autoimune (SPGA). SUJEITOS E MÉTODOS: Incluímos 151 pacientes com DMT1. Analisamos os seguintes parâmetros clínicos: gênero, idade atual, duração da doença, antecedentes pessoais de patologia autoimune e antecedentes familiares de diabetes melito. Submetemos cada doente a um estudo laboratorial com o objetivo de detectar a presença de marcadores imunológicos para a tireoidite, insuficiência adrenocortical, gastrite e doença celíaca, e eventual disfunção associada. RESULTADOS: Coorte com 51,7% homens, idade média atual de 33,4 ± 13 anos e duração da doença de 14,4 ± 9,6 anos. Antecedentes pessoais de autoimunidade presentes em 2% da amostra e história familiar de diabetes melito em 31,1%. A frequência de marcadores imunológicos foi de 24% para a tireoidite, 9,4% para a insuficiência adrenocortical, 17,2% para a gastrite e 2% para a doença celíaca. Foi diagnosticada SPGA em 25,2% dos pacientes. O risco de SPGA e tireoidite autoimune foi superior em mulheres. A duração da doença correlacionou-se diretamente com a presença de autoanticorpos gástricos e inversamente com a positividade dos anticorpos anti-ilhota, antiglutamato descarboxilase e antitirosina fosfatase. Constatou-se a existência de uma associação entre os marcadores imunológicos da tireoidite e gastrite, bem como entre a doença celíaca e insuficiência adrenocortical. CONCLUSÃO: Atendendo à frequência e ao prognóstico inerente à SPGA, a necessidade de realizar rastreio em pacientes com DMT1 é enfatizada. O diagnóstico atempado de outras doenças autoimunes permitirá individualizar o tratamento e seguimento do doente.

OBJECTIVE: To characterize a cohort of patients with type 1 diabetes mellitus (T1DM) on the presence of other autoimmune disorders that could establish the diagnosis of autoimmune polyglandular syndrome (APS). SUBJECTS AND METHODS: We included 151 patients with T1DM. The following clinical parameters were analyzed: gender, current age, disease duration, previous history of autoimmune disorders, and familial history for diabetes mellitus. Each patient was analyzed to detect autoimmune markers of thyroiditis, adrenocortical insufficiency, gastritis, and celiac disease, as well as possible associated dysfunctions. RESULTS: A cohort with 51.7% males, average current age of 33.4 ± 13 years and disease duration of 14.4 ± 9.6 years was analyzed. Previous history of autoimmunity was found in 2%, and familial history for diabetes mellitus in 31.1% of the cohort. Frequency of autoimmune markers was 24% for thyroiditis, 9.4% for adrenocortical insufficiency, 17.2% for gastritis, and 2% for celiac disease. APS was diagnosed on 25.2% of the patients. APS and autoimmune thyroiditis risk was higher in females. Disease duration correlated directly with gastric autoantibodies, and inversely with positive islet cell, glutamic acid decarboxylase, and tyrosine phosphatase antibodies. We noticed a correlation between autoimmune markers for thyroiditis and gastritis, as well as between celiac disease and adrenocortical insufficiency. CONCLUSION: Considering APS prevalence and prognosis, the need for APS screening in patients with T1DM is emphasized. Early diagnosis of other autoimmune disorders will enable us to adjust each patient treatment and follow-up.

Miastenia gravis, tiroiditis de Hashimoto y enfermedad de Addison: APS II: necesidad de un manejo multidisciplinario / Adrenal failure associated with Myasthenia gravis and Hashimoto thyroiditis: report of one case

We report a 43 years old female with a history of myasthenia gravis diagnosed five years before and a Hashimoto thyroiditis diagnosed two years before, who was admitted to the hospital due to marked asthenia, hypotension, sustained hypoglycemia and weight loss. Due to the suspicion of an acute adrenal failure, intravenous hydrocortisone was started with a favorable evolution. Results of laboratory tests obtained before starting cortisone showed low cortisol and elevated ACTH levels.

Autoimmune polyendocrine syndrome type 1: case report and review of literature / Síndrome poliglandular autoimune tipo 1: descrição de caso e revisão da literatura

Autoimmune polyendocrine syndrome type 1 (APECED) is a rare autosomal recessive disorder characterized by autoimmune multiorgan attack. The disease is caused by mutations in the autoimmune regulator gene (AIRE), resulting in defective AIRE protein, which is essential for selftolerance. Clinical manifestations are widely variable. Although the classic triad is composed by mucocutaneous candidiasis, hypoparathyroidism and adrenal failure, many other components may develop. Treatment is based on supplementation of the various deficiencies, and patients require regular follow-up throughout their lifespan. This article describes the case of a patient with the disease, and reviews literature data on the epidemiology, clinical course, immunogenetic aspects, diagnosis and treatment of the syndrome.

Síndrome poliglandular autoimune tipo 1 é uma rara desordem autossômica recessiva caracterizada por ataque autoimune a diversos órgãos. A doença é causada por mutações no gene AIRE (autoimmune regulator), resultando em uma proteína AIRE defeituosa, proteína esta essencial para a manutenção da autotolerância. As manifestações clínicas são extremamente variáveis. A tríade clássica é composta por candidíase mucocutânea crônica, hipoparatiroidismo e insuficiência adrenal, porém diversos outros componentes podem estar presentes. A base do tratamento é a reposição das diversas deficiências, e os pacientes devem ser acompanhados por toda a vida. Este artigo descreve o caso de uma paciente com a síndrome e apresenta uma revisão sobre a epidemiologia, quadro clínico, aspectos imunogenéticos, diagnóstico e tratamento da desordem, de acordo com a literatura publicada.

Síndrome Poliglandular Autoinmune Tipo II: Posible Asociación con HLA DRB1*-DQB1* / Possible association of Type II Autoimmune Polyendrocrine Syndrome with HLA DRB1*-DQB1*

Los síndromes poliendocrinos autoinmunes (APS) asocian enfermedades endocrinas autoinmunes con otros desórdenes autoinmunes no endocrinos. El APS tipo II se caracteriza por compromiso primario suprarrenal, tiroideo y/o DM tipo I. Presentamos un paciente masculino de 46 años que fue internado por astenia, adinamia, hiporexia, severa disminución de peso, mareos y vómitos. Antecedente de obesidad y diabetes diagnosticada 3 años antes. Presentaba hipotensión arterial, hiperpigmentación de mucosas y pliegues, anemia, hiponatremia e hipoglucemias frecuentes a pesar de la disminución de la dosis de insulina. Se diagnosticó insuficiencia suprarrenal, concomitantemente con hipotiroidismo y diabetes tipo 1, todas de origen autoinmune, iniciándose reemplazo hormonal. Se encontró una posible asociación del HLA DRB1*-DQB1* en los estudios genéticos. Conclusiones: Nuestro paciente presenta el HLA DQB1*0302 descripto en el APSII, pero el HLA DRB1 *08 encontrado no está descripto en este síndrome ni en ningún otro desorden autoinmune. En pacientes con Diabetes tipo 1 que disminuyan el requerimiento insulínico, habría que descartar insuficiencia suprarrenal, un componente del APS II, como factor etiológico, a pesar de su baja prevalencia.

Autoimmune polyendocrine syndromes (APS) are the association of autoimmune endocrine diseases with other non-endocrine autoimmune disorders. Type II APS is defined by occurrence of Addison´s disease with thyroid autoimmune disease and/or type 1 diabetes mellitus. We present a 46-year-old male patient who was hospitalized because of asthenia, adynamia, hyporexia, severe loss of weight, dizziness and vomiting. Diabetes mellitus had been diagnosed 3 years earlier when he was obese. He presented arterial hypotension, anemia, darkening of the skin and oral mucosa, hyponatremia and frequent hypoglycemia although his insulin dose was decreased. Adrenal insufficiency was diagnosed together with hypothyroidism and type 1 diabetes, all of them of autoimmune origin. Hormonal replacement treatment was initiated. Genetic studies were performed and a new polymorphism was found. Conclusions: HLA DRB1 *08 found in our patient has not been described in APS II or in any other autoimmune disorders. He also has HLA DQB1*0302 described in previous reports related to APS II. In type 1 diabetic patients whose insulin requirement decreases, it would be advisable to rule out adrenal insufficiency, a component of APS II, as an etiologic factor in spite of its low prevalence. In diabetic obese patients (mainly young) who lose weight without a defined cause, type 1 diabetes mellitus should be excluded.

Autoimmune polyglandular syndrome type 1 in Saudi children

To describe the clinical, biochemical, and immunological manifestations of autoimmune polyglandular syndrome type 1 [APS-1] in a Saudi population. The medical files of 7 consanguineous Saudi families with 20 affected siblings were retrospectively reviewed. They were followed at the Pediatric Endocrinology Clinic, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia for a mean duration of 6 years [January 2000 to December 2009]. The age of the affected children ranged from 2-17 years. The included patients had at least 2 out of the 3 major clinical diagnostic criteria of APS-1. Fourteen children had neonatal chronic mucocutaneous candidiasis affecting the nails and mouth. The most commonly presenting endocrine disease among APS-1 patients was hypoparathyroidism. Eight patients had autoimmune Addison's disease. Hypothyroidism was diagnosed in 3 patients, and 9 patients had alopecia universalis. Other endocrine and autoimmune disorders were infrequently seen including type 1 diabetes, growth hormone deficiency, celiac disease, autoimmune hepatitis, and keratoconjuctivitis. Autoimmune polyglandular syndrome type 1, although an uncommon disorder in Saudi children affects multiple endocrine glands, and is associated with several autoimmune diseases where alopecia universalis is a common finding

Caso clínico: síndrome poliglandular autoinmune tipo II, forma de presentación en un paciente adulto / Clinical case: autoimmune polyglandular syndrome type II, presentation in adult patient

Autoimmune Polyglandular Syndrome (APS) type II or Schmidt`s Syndrome is diagnosed when a patient has adrenocortical deficiency with type 1 diabetes mellitus, chronic lymphocyticthyroiditis, or Graves’ disease. The disease commonly manifests in the third or fourth decade. We present the case of a 45 yo male patient who manifested simultaneously at the moment of diagnosis, clinical and laboratory features of hypothyroidism, pernicious anemia and Addison disease. We discuss etiologic, clinical and biochemical aspects in type II APS.

Anticuerpos anti 21 hidroxilasa séricos en pacientes con anticuerpos antifracción microsomal: síndrome poliendocrino autoinmune / Seric 21- hydroxilase antibodies in patients with anti-microsomal fraction antibodies: autoimmune polyendocrine syndrome

El síndrome poliendocrino autoinmune (SPA) es la asociación de enfermedades endocrinas autoinmunes con otros desórdenes autoinmunes no endocrinos. Los tipos 1, 2 y 4 presentan adrenalitis autoinmune, esto indica la presencia de autoanticuerpos, y su marcador serológico específico es el anti 21 hidroxilasa (a21-OH). El SPA tipo 2 es la asociación de adrenalitis, enfermedad tiroidea y/o diabetes mellitus inducidas por autoanticuerpos. Como componentes menores, pueden estar asociados entre otros, vitiligo, alopecia y miastenia. Nuestros objetivos fueron: establecer la prevalencia de a21-OH séricos en pacientes con anticuerpos anti fracción microsomal (AFM) positivos, enfermedad tiroidea autoinmune y/o afecciones endocrinas y no endocrinas autoinmunes; diagnosticar formas incompletas de SPA y estudiar individuos con probable riesgo de progresión a un SPA completo. Estudiamos 72 pacientes AFM positivos y 60 sujetos tomados como grupo control, AFM negativos. Hallamos a21-OH elevados en dos pacientes: A= 47 U/ml, hipotiroidismo autoinmune y miastenia; y B= 8.75 U/ml, hipotiroidismo autoinmune y vitiligo; ambos con ausencia de insuficiencia adrenal. La prevalencia de a21-OH encontrada fue del 2.8%. Las pacientes A y B corresponden a un SPA tipo 2 incompleto y latente en relación al componente adrenal. Considerando a los a21-OH marcadores de enfermedad autoinmune latente, el eventual riesgo de evolución hacia la afección clínica sugiere la necesidad de estrechos controles clínicos y bioquímicos periódicos.

Autoimmune polyendocrine syndrome (APS) is the association of autoimmune endocrine diseases, with other autoimmune nonendocrine disorders. APS types 1, 2 and 4 include autoimmune adrenalitis; this suggests the presence of autoantibodies. A specific serological marker for these is the anti 21- hydroxilase autoantibody (a21-OH). APS type 2 is the association of autoimmune adrenalitis, to autoimmune thyroid disease and/or diabetes mellitus, all these are induced by autoantibodies. Alopecia, vitiligo, myasthenia and other manifestations can be minor components. We sought to establish the prevalence of seric a21-OH in patients with positive anti-microsomal fraction autoantibodies, autoimmune thyroid disease and/or non-endocrine autoimmune diseases. We also aimed to diagnose incomplete forms of APS and to follow up patients at risk of progression to complete forms of APS. A population of 72 patients and another of 60 controls with negative anti-microsomal fraction autoantibodies were studied. Elevated seric a21-OH were found in two patients. Patient A with 47 U/ml had autoimmune hypothyroidism and myasthenia; and patient B with 8.75 U/ml had autoimmune hypothyrodism and vitiligo; they both lacked adrenal insufficiency. Seric a21-OH had a prevalence of 2.8%. Regarding the adrenal component, patients A and B had an incomplete and latent APS type 2. Considering a21-OH as markers of latent endocrine autoimmune diseases and taking into account the eventual risk of developing clinical manifestations, periodic biochemical and clinical follow-ups are recommended.

Polyglandular autoimmune syndrome-type I.

Polyglandular autoimmune syndrome type I is a rare disorder characterized by mucocutaneous candidiasis (MC), hypoparathyroidism (HP) and adrenal insufficiency , requiring regular follow up as the components of the syndrome appear at different age groups. We report a six and half year boy having this syndrome and presenting with MC, HP and ectodermal dystrophy.

Síndrome autoinmune poliglandular tipo II: reporte de un caso y revisión de la literatura / Autoinmune polyglandular syndrome type II: a case report and review of literature

El síndrome autoinmune poliglandular (SAP) corresponde a una infrecuente entidad clínica que se reconoce por el compromiso de dos o más glándulas endocrinas basados en mecanismos autoinmunes, siendo posible además la afectación de órganos no endocrinos por esta misma causa. Debido a esto último el término síndrome autoinmune "poliendocrino", antes utilizado frecuentemente, ya no es completamente aceptado para referirse a esta patología. Actualmente existen dos grupos clásicos (SAP tipo I y tipo II) los cuales se clasifican de acuerdo a la edad de presentación de la enfermedad, combinaciones características de órganos comprometidos y patrón hereditario, entre otros. Además se describen otros dos grupos de menor importancia clínica llamados SAP tipo III y IV. A continuación se presenta un caso clínico pediátrico de SAP tipo II diagnosticado en el Hospital Herminda Martín de Chillán y una revisión actualizada de la literatura correspondiente.

Vitiligo y tiroiditis de Hashimoto: asociación o síndrome autoinmune? / Vitiligo and Hashimoto's thyroiditis: an association or an autoimmune syndrome?

Se sospecha de ciertos virus y otros agentes como causantes de la tiroiditis de Hashimoto, siendo bien conocida la asociación con otras entidades inmunes, entre ellas el vitiligo. Una vez disparados los fenómenos inmunológicos se generan anticuerpos contra los antígenos microbianos (o de otro tipo), pero también Ac. contra antígenos propios como los de la estructura tiroidea y la piel. En el vitiligo hay alta incidencia de anticuerpos organoespecíficos, pero también otros anticuerpos no organoespecíficos, sugiriéndose para los síndromes autoinmunes múltiples y las colagenopatías un fuerte parentesco clínico, laboratorial y quizá etiológico. En este caso clínico en particular la tarea del dermatólogo cobró importancia pues toda la investigación generada se debió a la repentina aparición de vitiligo en un paciente con síntomas vagos

Síndrome poliglanular autoinmune tipo II (síndrome de Schmidt): informe del primer caso diagnosticado en 29,568 autopsias practicadas en el Hospital General de México / Autoimmune polyglandular syndrome type II (Schmidt's Syndrome): report of the first case diagnosed in 29,568 autopsies performed in the Hospital General de Mexico

Se informa el primer caso diagnosticado por autopsia de síndrome poliglandular autoinmune tipo II (Síndrome de Schmidt) en 29,568 necropsias practicadas en el Hospital General de México. Correspondió a una mujer de 18 años con diagnóstico de diabetes mellitus tipo I, que ingresó con datos de desequilibrio hidroelectrolítico y neumonía basal derecha, murió por insuficiencia respiratoria. En la autopsia se encontró desnutrición grado II, tiroiditis de Hashimoto, adrenalitis linfocítica, atrofia en ovario y neumonía derecha, sin alteraciones en otras glándulas endocrinas

Evolución exitosa del embarazo en una paciente con síndrome pluriglandular de Schmidt tratada con terapia hormonal de reemplazo / Successful evolution of a pregnant patient with Schmidt syndrome treated with hormonal replacement theraphy

El síndrome de Schmidt se caracteriza por la existencia de insuficiencia suprarrenal y tiroiditis linfocítica, sin embargo, puede estar acompañado de otros padecimientos autoinmunes. La enfermedad de Addison generalmente produce esterilidad por anovulación crónica, pero las pacientes tratadas adecuadamente preservan la fertilidad. Existen pocas publicaciones de síndrome de Schmidt y embarazo, en este trabajo se presenta un caso tratado con terapia hormonal de reemplazo y evolución gestacional satisfactoria

Síndrome poliglandular auto-imune tipo II / Type II autoimmune polyglandular syndrome

Os autores apresentam um caso de síndrome poliglandular auto-imune (SPA) tipo II, caracterizada pela associaçao de insuficiência adrenal, hipotireoidismo subclínico, hipofunçao gonadal e vitiligo. Discutem a prevalência das doenças auto-imunes associadas a esta síndrome e a conseqüente importância de classificar em tipo I e II as pacientes com SPA.

"Stiff-Man syndrome"associada a poliendocrinopatia autoimune : relato de um caso / Stiff-man syndrome associated with autoimune polyndocrinopathy : report of a case

Os autores relatam o caso de uma paciente de 29 anos, parda, portadora de "stiff-man syndrome" (SMS) associada a poliendocrinopatia do tipo II (moléstia de Basedow-Graves, diabetes mellitus tipo I e tiroidite de Hashimoto). A primeira endocrinopatia foi a doença de Graves que surgiu aos 12 anos e entrou em remissao após um período de tratamento clínico. As manifestaçoes de SMS surgiram há 5 anos, com enrijecimento e espasmos dolorosos dos músculos axiais, e hipertrofia de deltóide e trapézio, tendo desenvolvido diabetes mellitus insulino-dependente (DMI) 2 anos após SMS. Há 1 ano apresentou também hipotiroidismo subclínico (tiroidite de Hashimoto). Foram detectados anticorpos anti-decarboxilase do ácido glutâmico (anti-GAD) no líquor e no soro da paciente, o que confirma o diagnóstico de SMS. Estes autoanticorpos estao voltados contra uma proteína de massa molecular 64 Kd (GAD) e têm sido detectados em 80 por cento dos pacientes com DMI. Pacientes com SMS apresentam alta prevalência desses autoanticorpos e uma grande associaçao com DMI. Na paciente descrita foi possível detectar autoanticorpos contra vários tecidos alvo (tiróide, pâncreas e neurônios GABA-érgicos). Neste relato discute-se os critérios diagnósticos, a fisiopatologia da SMS e os mecanismos imunológicos que levam ao DMI nesta síndrome.