RESUMO
La enfermedad de Addison, o insuficiencia suprarrenal primaria, es una enfermedad rara en los niños. La baja incidencia de la enfermedad, los síntomas inespecíficos y su lenta progresión requieren un alto índice de sospecha para su diagnóstico. La terapia sustitutiva con corticoides es vital para los pacientes con insuficiencia suprarrenal, pero el diagnóstico bioquímico es básico previo al inicio del tratamiento, por lo que ante la presencia de hiponatremia y astenia crónica debe considerarse la determinación del cortisol. Además, una vez confirmada la enfermedad, debe realizarse el estudio inmunológico. Presentamos el caso de un niño de 10 años con enfermedad de Addison de etiología autoinmune, con antecedente de pubarquia precoz, dada la baja incidencia de esta patología en la edad pediátrica. Hacemos un repaso de las pruebas realizadas para llegar al diagnóstico de la enfermedad y determinar la etiología (AU)
Addisons disease is a rare disease in children. The low incidence of the disease, unspecific symptoms, and slow progression require a high index of suspicion for its diagnosis. Replacement therapy with corticoids is vital for patients with adrenal insufficiency but the biochemical diagnosis is essential before starting treatment, so in the presence of hyponatremia and chronic fatigue the cortisol determination should be considered. In addition to this, once disease is confirmed the immune study should be performed. We report the case of a 10 years old boy with Addisons disease of autoimmune etiology, with history of premature pubarche, for its low incidence in childhood. We do a review of the laboratory tests to diagnose the disease and determine the etiology (AU)
Assuntos
Humanos , Masculino , Criança , Doença de Addison/diagnóstico , Doença de Addison/tratamento farmacológico , Corticosteroides/uso terapêutico , Insuficiência Adrenal/complicações , Insuficiência Adrenal/diagnóstico , Insuficiência Adrenal/tratamento farmacológico , Hiperpigmentação/complicações , Hiperpigmentação/diagnóstico , Doença de Addison/imunologia , Insuficiência Adrenal/imunologia , Autoimunidade , Astenia/complicações , Mialgia/complicações , Redução de Peso/fisiologia , Debilidade Muscular/complicações , Anorexia , Vômito/complicações , Técnica Indireta de Fluorescência para Anticorpo/métodosRESUMO
No disponible
Assuntos
Humanos , Masculino , Criança , Tireoidite Subaguda , Cintilografia , Hipotireoidismo/diagnóstico , Nódulo da Glândula TireoideRESUMO
El seudohipoparatiroidismo (PHP) es una entidad rara, caracterizada por resistencia tisular a la hormona paratiroidea (PTH). Los 2 subtipos principales, PHP-Ia y PHP-Ib, son causados por alteraciones en el gen GNAS (20q13.3), que codifica para la proteína Gsα, esencial para la acción de la PTH y otras hormonas. El PHP-Ia se asocia a diversas alteraciones hormonales, osteodistrofia hereditaria de Albright (AHO) y actividad reducida de Gsα. Está causado por mutaciones inactivantes del gen GNAS. El PHP-Ib presenta resistencia aislada a la PTH, sin AHO y con actividad Gsα normal o levemente baja. Se asocia a defectos en la impronta de GNAS. Se presentan 2 casos con PHP-Ia y PHP-Ib, ahondando en su clínica y en el diagnóstico diferencial frente a afecciones similares (AU)
Pseudohypoparathyroidism (PHP) is a rare disorder, characterized by a tissue resistance to parathyroid hormone (PTH). The two main subtypes of PHP, PHPIa and PHPIb, are caused by alterations in the GNAS locus (20q13.3), which encodes the Gs protein, essential for the action of PTH and other hormones. PHP-Ia is associated with several hormone resistances, Albright hereditary osteodystrophy (AHO), and reduced Gsα activity. It is caused by inactivating mutations in the GNAS gene. PHPIb presents with isolated resistance to PTH, without AHO and with normal to low Gsα activity. It is related to imprinting defects in GNAS. Two unrelated cases of PHP-Ia and PHP-Ib are presented here, focusing on their clinical aspects and in the differential diagnosis with similar pathologies (AU)
Assuntos
Humanos , Masculino , Criança , Pseudo-Hipoparatireoidismo/fisiopatologia , Displasia Fibrosa Poliostótica/fisiopatologia , Diagnóstico Diferencial , Subunidades alfa Gs de Proteínas de Ligação ao GTP/análise , Obesidade/etiologiaRESUMO
Pseudohypoparathyroidism (PHP) is a rare disorder, characterized by a tissue resistance to parathyroid hormone (PTH). The two main subtypes of PHP, PHPIa and PHPIb, are caused by alterations in the GNAS locus (20q13.3), which encodes the Gsα protein, essential for the action of PTH and other hormones. PHP-Ia is associated with several hormone resistances, Albright hereditary osteodystrophy (AHO), and reduced Gsα activity. It is caused by inactivating mutations in the GNAS gene. PHP-Ib presents with isolated resistance to PTH, without AHO and with normal to low Gsα activity. It is related to imprinting defects in GNAS. Two unrelated cases of PHP-Ia and PHP-Ib are presented here, focusing on their clinical aspects and in the differential diagnosis with similar pathologies.
