RESUMO
A propósito del estudio de un paciente con anasarca, enteropatía pierde proteínas y dolor abdominal recurrente secundario a episodios de suboclusión intestinal, al que se le diagnostica de enteritis ulcerosa criptogénica, estenosante y multifocal (CMUSE), se revisa esta enfermedad rara y poco conocida, probablemente causada por mutaciones en el gen de PLA2G4A, que se caracteriza por múltiples estenosis cortas del intestino delgado con ulceraciones que no sobrepasan la submucosa. La enfermedad inflamatoria intestinal (enfermedad de Crohn), la tuberculosis intestinal y las ulceraciones intestinales asociadas a la toma de antiinflamatorios no esteroides son los principales diagnósticos diferenciales. En conclusión, CMUSE debería ser incluida en el diagnóstico diferencial del dolor abdominal recurrente, anemia ferropénica con sangrado intestinal oculto, edemas y enteropatía pierde proteínas (AU)
We studied a patient with edema secondary to protein losing enteropathy, and recurrent bouts of bloating and abdominal pain secondary to intestinal subocclusion episodes. After the clinical study, the patient was diagnosed of cryptogenic multifocal ulcerous stenosing enteritis (CMUSE), that is a rare disease, probably caused by mutations in the gene PLA2G4A, and characterized by multiple short stenosis of the small bowel with superficial ulcers, which do not exceed the submucosa layer. Inflammatory bowel disease (Chron's disease), intestinal tuberculosis and intestinal ulcers secondary to non-steroidal anti-inflammatory drugs are the main differential diagnosis. To sum up, physicians should included CMUSE in the differential diagnosis of recurrent abdominal pain, iron deficiency anaemia, occult intestinal bleeding, edema and protein losing enteropathy (AU)
Assuntos
Humanos , Masculino , Feminino , Enterite/complicações , Recidiva , Hemorragia Gastrointestinal/complicações , Hemorragia Gastrointestinal/epidemiologia , Redução de Peso/genética , Redução de Peso/fisiologia , Enteropatias Perdedoras de Proteínas/complicações , Enteropatias Perdedoras de Proteínas/epidemiologia , Intestino Delgado/patologia , Intestino Delgado , Dor Abdominal/complicações , Dor Abdominal/epidemiologia , Diagnóstico DiferencialRESUMO
We studied a patient with edema secondary to protein losing enteropathy, and recurrent bouts of bloating and abdominal pain secondary to intestinal subocclusion episodes. After the clinical study, the patient was diagnosed of cryptogenic multifocal ulcerous stenosing enteritis (CMUSE), that is a rare disease, probably caused by mutations in the gene PLA2G4A, and characterized by multiple short stenosis of the small bowel with superficial ulcers, which do not exceed the submucosa layer. Inflammatory bowel disease (Chron's disease), intestinal tuberculosis and intestinal ulcers secondary to non-steroidal anti-inflammatory drugs are the main differential diagnosis. To sum up, physicians should included CMUSE in the differential diagnosis of recurrent abdominal pain, iron deficiency anaemia, occult intestinal bleeding, edema and protein losing enteropathy.
Assuntos
Enterite/diagnóstico , Enteropatias Perdedoras de Proteínas/diagnóstico , Úlcera/diagnóstico , Anemia Ferropriva/etiologia , Constrição Patológica , Diagnóstico Diferencial , Humanos , Obstrução Intestinal , Intestino Delgado , Enteropatias Perdedoras de Proteínas/complicaçõesRESUMO
El síndrome de la hipergammaglobulinemia IgE con infecciones recurrentes es una inmunodeficiencia primaria poco frecuente, que se caracteriza por niveles elevados de IgE, dermatitis eccematoide, infecciones recurrentes de piel y pulmón por Staphylococcus aureus, y formación de abscesos con escasos signos inflamatorios. También produce alteraciones dentarias, esqueléticas y del tejido conjuntivo. La forma clásica (tipo 1) está causada por mutaciones dominantes del gen de la proteína transductora de señal y activadora de la transcripción 3. Se ha descrito una forma incompleta (tipo 2) solo con las manifestaciones de la inmunodeficiencia, pero sin manifestaciones mesenquimales. Esta forma incompleta se debe a la mutación recesiva del gen de la tirosin-cinasa 2. Ambas mutaciones condicionan un déficit en la generación de células Th17 a partir de células T CD4+. Estos avances en el conocimiento genético e inmunológico del síndrome de hipergammaglobulinemia IgE han permitido la mejor comprensión de los fenómenos clínicos de la enfermedad(AU)
Hyper-IgE recurrent infection syndrome is an uncommon primary immunodeficiency characterized by high serum levels of total IgE, eczema-like dermatitis, recurrent skin abscesses and staphylococci pneumonias, which can produce abscesses with mild inflammatory signs. It also causes dental, musculoskeletal and connective tissue abnormalities. The classical (type 1) variation is caused by autosomal-dominant mutations in signal transducer and activator of transcription 3. An incomplete form (type 2) has been described with only the immunological manifestations, but without the mesenchymal manifestations, has been described. This incomplete form is caused by recessive mutations in the tyrosine kinase 2 gene. Both kinds of mutations produce deficient formation of Th17-cells. These advances in the genetic and immunologic knowledge of hyper-IgE recurrent infection syndrome have allowed a better clinical comprehension of the clinical phenomena of the disease(AU)
Assuntos
Humanos , Masculino , Pessoa de Meia-Idade , Hipergamaglobulinemia/complicações , Hipergamaglobulinemia/diagnóstico , Hipergamaglobulinemia/terapia , Doenças Hereditárias Autoinflamatórias/complicações , TYK2 Quinase/administração & dosagem , TYK2 Quinase , Eczema/complicações , Eczema/diagnóstico , Diagnóstico Diferencial , Hipergamaglobulinemia/fisiopatologia , Células Th17/patologia , Fatores de Transcrição STAT , Fatores de Transcrição STAT/genéticaRESUMO
Hyper-IgE recurrent infection syndrome is an uncommon primary immunodeficiency characterized by high serum levels of total IgE, eczema-like dermatitis, recurrent skin abscesses and staphylococci pneumonias, which can produce abscesses with mild inflammatory signs. It also causes dental, musculoskeletal and connective tissue abnormalities. The classical (type 1) variation is caused by autosomal-dominant mutations in signal transducer and activator of transcription 3. An incomplete form (type 2) has been described with only the immunological manifestations, but without the mesenchymal manifestations, has been described. This incomplete form is caused by recessive mutations in the tyrosine kinase 2 gene. Both kinds of mutations produce deficient formation of Th17-cells. These advances in the genetic and immunologic knowledge of hyper-IgE recurrent infection syndrome have allowed a better clinical comprehension of the clinical phenomena of the disease.
Assuntos
Síndrome de Job/genética , Mutação , Diagnóstico Diferencial , Genes Dominantes , Fatores de Troca do Nucleotídeo Guanina/genética , Humanos , Síndrome de Job/diagnóstico , Síndrome de Job/imunologia , Síndrome de Job/terapia , Guias de Prática Clínica como Assunto , Fator de Transcrição STAT3/genética , TYK2 Quinase/genética , Células Th17/metabolismoRESUMO
La tuberculosis mamaria es un proceso muy poco frecuente. El diagnóstico es dificultoso y a menudo es erróneo si no se sospecha. La clínica y el diagnóstico por imagen no son específicos y frecuentemente se confunde con otras enfermedades, lo que puede conducir a un tratamiento terapéutico erróneo (AU)
Breast tuberculosis is a highly uncommon disease. Diagnosis is difficult and often erroneous unless this entity is suspected. Clinical and imaging diagnoses are not specific and breast tuberculosis is frequently confused with other diseases, leading to incorrect therapeutic management (AU)
Assuntos
Humanos , Feminino , Idoso , Doenças Mamárias/diagnóstico , Tuberculose/diagnóstico , Granuloma/diagnóstico , Diagnóstico DiferencialRESUMO
Chronic adrenal failure due to hypothalamic-hypophyseal disorders is rarely encountered. This can be due to hormonal deficiencies generally related to the presence of a brain tumor or an infiltrating process and sometimes to an isolated deficiency of ACTH. We report on two patients with adrenal failure with low basal cortisol levels and a poor response to short cortisol stimulation test with ACTH. Long cortisol stimulation test with ACTH was normal and ACTH was not stimulated with corticotropin releasing factor. However, other specific dynamic pituitary hormonal tests were normal. The uncommon clinical presentation of the disease, such as severe hypoglycemic crisis and fever of unknown origin (FUO), is underscored.