ABSTRACT
Resumen La tríada de Herbst es una manifestación inusual de la enfermedad por reflujo gastroesofágico y de otras patologías esofágicas. Se caracteriza por la presencia de anemia, acropaquias (hipocratismo digital) y enteropatía perdedora de proteínas. Al ser una condición anecdótica, la información disponible deriva de los reportes de caso. La fisiopatología aún no es clara. Se reporta el caso de una escolar, en quien se revierten los síntomas una vez se realiza el manejo quirúrgico.
Abstract The Herbst triad is a rare manifestation of gastroesophageal reflux disease and other esophageal pathologies. It is characterized by the presence of anemia, digital clubbing, and protein-losing enteropathy. Since evidence on this condition is anecdotal, the available information is mostly derived from case reports and its physiopathology remains unclear. The following is the case of a schoolchild, whose symptoms were reversed once she underwent surgery.
Subject(s)
Humans , Female , Child , Gastroesophageal Reflux , Pathology , Protein-Losing Enteropathies , Signs and Symptoms , AnemiaABSTRACT
A criptococose é uma doença oportunista que ocorre com maior frequência em pacientes imunossuprimidos, ocasionando piora clínica e imunológica importante. Porém, é raro quando a doença ocorre em pacientes imunocompetentes. Relatamos aqui um caso de paciente previamente hígido que evoluiu com enteropatia perdedora de proteína, hipogamaglobulinemia secundária causada por criptococose disseminada.
Cryptococcosis is an opportunistic disease that occurs more frequently in immunosuppressed patients, causing important clinical and immunological deterioration. However, the disease rarely occurs in immunocompetent patients. We report a case of a previously healthy patient who progressed with protein-losing enteropathy, secondary hypogammaglobulinemia caused by disseminated cryptococcosis.
Subject(s)
Humans , Male , Middle Aged , Protein-Losing Enteropathies , Cryptococcosis , Diagnosis, Differential , Patients , Opportunistic Infections , Proteins , Agammaglobulinemia , Allergy and ImmunologyABSTRACT
La linfangiectasia intestinal primaria es una entidad clínica poco común de etiología desconocida. La edad típica de presentación de esta enfermedad es durante los 3 primeros años de vida, pero también se han reportado casos en adultos. Posee sintomatología variable, pero la manifestación clínica principal es el edema, puede presentarse también diarrea y pérdida de peso. La pérdida de fluido linfático en el tracto gastointestinal conlleva también a hipoproteinemia y linfopenia. El diagnóstico se establece en base a la clínica, a los estudios de laboratorio, al estudio endoscópico y se confirma con la evaluación histológica de la biopsia realizada. El manejo se da mediante una dieta rica en proteínas, baja en grasas y triglicéridos de cadena media. A continuación, se presenta el caso de un paciente varón de 1 año de edad que presenta edema generalizado, con predominio de miembros inferiores, y diarrea. Los exámenes de laboratorio muestran la presencia de hipoproteinemia marcada. Posteriormente, se realiza una endoscopía digestiva alta y una biopsia duodenal. El estudio histológico confirma el diagnóstico de linfangiectasia intestinal primaria. El paciente recibe el tratamiento establecido para esta enfermedad y, finalmente es dado de alta.
Primary intestinal lymphangiectasia is a rare clinical condition of unknown etiology. The common age of presentation is during the first 3 years of life, but cases in adults have also been reported. It has a variable symptomatology, but the main clinical manifestation is edema, also diarrhea and weight loss can occur. The loss of lymph fluid into the gastrointestinal tract also leads to hypoproteinemia and lymphopenia. Diagnosis is based on clinical manifestations, laboratory and endoscopic findings, and is confirmed on histopathological examination of biopsy. The main treatment is a protein rich, low in fat and medium chain triglyceride diet. We present the case of a 1-year-old male patient who presents with generalized edema, predominantly in lower limbs, and diarrhea. Laboratory findings show the presence of marked hypoproteinemia. Then an endoscopy and a duodenal biopsy are performed, and the histopathological study confirms the diagnosis of primary intestinal lymphangiectasia. The patient is treated and after a satisfactory evolution, is discharged.
Subject(s)
Humans , Infant , Male , Lymphangiectasis, Intestinal/diagnosis , Peru/epidemiology , Venezuela/ethnology , Dietary Fats/therapeutic use , Dietary Proteins/therapeutic use , Adrenal Cortex Hormones/therapeutic use , Combined Modality Therapy , Diarrhea/etiology , Diuretics/therapeutic use , Edema/etiology , Hemodynamics , Hypoproteinemia/diet therapy , Hypoproteinemia/etiology , Lymphangiectasis, Intestinal/complications , Lymphangiectasis, Intestinal/therapy , Lymphangiectasis, Intestinal/epidemiologyABSTRACT
A síndrome de desregulação imune, poliendocrinopatia e enteropatia ligada ao X (IPEX) é uma síndrome de imunodeficiência primária rara, de herança recessiva, que afeta lactentes do sexo masculino. A doença cursa com enteropatia perdedora de proteínas, dermatite eczematosa e poliendocrinopatias, podendo ser fatal naqueles sem tratamento apropriado. O objetivo deste relato é descrever um caso de IPEX, enfatizando a importância da história familiar para o diagnóstico precoce. O caso descreve um lactente com tipo grave da síndrome, com apresentação clínica precoce e história familiar característica, com episódios de morte prematura em doze homens pertencentes à linhagem materna. O diagnóstico por mapeamento genético demostrando mutação no gene FOXP3 foi obtido após o óbito do paciente, decorrente de choque séptico. O transplante de células-tronco hematopoiéticas é o melhor tratamento disponível, e na sua ausência, a síndrome IPEX pode ser fatal nos primeiros dois anos de vida. Assim, assegurar um diagnóstico precoce é fundamental.
Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare recessive primary immunodeficiency syndrome that affects male infants. The disease course is characterized by protein-losing enteropathy, eczematous dermatitis, and polyendocrinopathies, and may be fatal if not appropriately treated. The aim of this report was to describe a case of IPEX, emphasizing the importance of family history for early diagnosis. The case describes an infant with a severe manifestation of the syndrome, with early clinical presentation and characteristic family history, with episodes of premature death affecting 12 men belonging to the mother's lineage. Diagnosis was established by genetic mapping after the patient's death due to septic shock; a mutation in the FOXP3 gene was found. Hematopoietic stem cell transplantation is the best treatment available; in its absence, the IPEX syndrome can be fatal in the first 2 years of life. Therefore, ensuring early diagnosis is critical.
Subject(s)
Humans , Male , Infant , Polyendocrinopathies, Autoimmune , Genetic Diseases, X-Linked , Early Diagnosis , Primary Immunodeficiency Diseases/mortality , Patients , Protein-Losing Enteropathies , Chromosome Mapping , Mortality, Premature , MutationABSTRACT
A enteropatia perdedora de proteínas raramente pode ser observada em pacientes com lúpus eritematoso sistêmico. Essa situação clínica deve ser suspeitada quando houver hipoalbuminemia persistente, na presença de uma função hepática preservada, ingesta proteica adequada e ausência de proteinúria significativa. Descrevemos o caso de uma paciente de 48 anos com perda ponderal, derrames cavitários (ascite e derrame pleural) e edema de membros inferiores. O diagnóstico de lúpus foi firmado a partir da presença de linfopenia, proteinúria, FAN e autoanticorpos positivos (anti-Sm, anti-DNA e anti-Ro). Houve persistência de hipoalbuminemia mesmo com corticoterapia na dose de 1 mg/kg de peso, sendo diagnosticada enteropatia perdedora de proteínas por meio da cintilografia com albumina 99mTc. A melhora clínica e laboratorial da paciente veio após a associação da azatioprina com corticosteroide.
Protein-losing enteropathy is rarely seen in patients with systemic lupus erythematosus. This clinical condition should be suspected in the presence of persistent hypoalbuminemia despite normal liver function, adequate protein intake, and no significant proteinuria. We report the case of a 48-year-old female with weight loss, cavity effusions (ascites and pleural effusion), and lower extremity edema. The diagnosis of lupus was established based on the presence of lymphopenia, proteinuria, ANA, and positive autoantibodies (anti-Sm, anti-DNA, and anti-Ro). Because hypoalbuminemia persisted even with corticosteroid therapy at the dose of 1 mg/kg, protein-losing enteropathy was diagnosed by use of Tc-99m albumin scintigraphy. After adding azathioprine to the treatment, the symptoms subsided and serum albumin levels improved.
Subject(s)
Female , Humans , Middle Aged , Lupus Erythematosus, Systemic/complications , Protein-Losing Enteropathies/etiology , Hypoalbuminemia , Lupus Erythematosus, Systemic/drug therapy , Proteinuria , Protein-Losing Enteropathies/drug therapyABSTRACT
Apesar dos avanços na cirurgia de Fontan, obstruções nos condutos extracardíacos podem ocorrer e causar deterioração clínica. Relatamos dois casos em que foram realizados implante de stent para correção de estenose na cirurgia de Fontan. Ascite era o sinal clínico comum; um paciente tinha enteropatia perdedora de proteínas.Todos os procedimentos obtiveram sucesso angiográfico e clínico.
Despite advances in Fontan surgery, obstruction in extracardiac ducts may occur and cause clinical deterioration. We report two cases of stent implantation for correction of stenosis in the Fontan surgery. Ascites was a common clinical sign; a patient was protein losing enteropathy. All procedures were angiographically and clinically successful.
Pese a los avances en la cirugía de Fontan, obstrucciones en los conductos extracardíacos pueden producirse y ocasionar deterioro clínico. Relatamos dos casos en que se llevaron a cabo implante de stent para la corrección de estenosis en la cirugía de Fontan. Ascitis era o el signo clínico común; un paciente tenía enteropatía perdedora de proteínas. Todos los procedimientos obtuvieron éxito angiográfico y clínico.
Subject(s)
Child , Female , Humans , Male , Fontan Procedure/adverse effects , Pulmonary Artery/surgery , Stents , Ascites/etiology , Constriction, Pathologic/surgery , Fontan Procedure/methods , Protein-Losing Enteropathies/etiology , Treatment Outcome , Vena Cava, Inferior/surgeryABSTRACT
Relatamos um caso incomum de associação de bronquite plástica (BP) com enteropatia perdedora de proteínas (EPP) em menina de 4 anos e 9 meses de idade. com dupla via de entrada de ventrículo único tipo esquerdo e concordância ventrículo-arterial submetida à cirurgia cavopulmonar total. com túnel lateral intracardíaco aos três anos. Tornaram-se chamativas a eliminação de molde brônquico de fibrina de 10 cm (BP) e a elevação de alfa-1-antitripsina de 52 mg/g de fezes. Em uso de sildenafila. programou-se. em caso de continuidade do processo. a ligadura do ducto torácico e transplante cardíaco.
We report an unusual case of association of plastic bronchitis (PB) to protein-losing enteropathy (PLE) in a girl of 4 years and 9 months of age with double inlet single left ventricle and ventriculoarterial concordance. submitted to total cavopulmonary surgery. with an intracardiac lateral tunnel at the age of three. The elimination of the 10 cm fibrin bronchial mold (PB) and the alpha-1-antitrypsin elevation of 52 mg/g in feces had both become outstanding. Using sildenafil. the thoracic duct ligature and the cardiac transplant were programmed in case of continuity of the process.