Assuntos
Processamento Alternativo , Cromossomos Humanos Par 15 , Cromossomos Humanos Par 17 , Reação em Cadeia da Polimerase/métodos , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Translocação Genética , Adulto , Feminino , Humanos , Leucemia Promielocítica Aguda/diagnóstico , Leucemia Promielocítica Aguda/genética , Proteínas de Neoplasias/genética , Proteínas de Fusão Oncogênica/genéticaRESUMO
Hereditary pancreatitis (HP) is clinically indistinguishable from pancreatitis with other causes. Patients with HP have an increased chance of developing pancreatitis. Mutations in the cationic trypsinogen gene appear to cause most HP, although there is evidence for mild genetic heterogeneity with defects in other genes. Trypsin stabilization and protection from autolysis appear to play a central role in the pathogenesis of pancreatitis. The role of mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) as well as the pancreatic secretory trypsin inhibitor (PSTI) in patients with pancreatitis is intriguing but as yet incompletely understood. Genetic testing may help to identify and manage patients with HP. Healthcare professionals should understand the elements necessary for obtaining informed consent for patients undergoing these tests, the limits in interpreting test results, and the psychosocial issues that may arise from genetic testing.
Assuntos
Testes Genéticos , Pancreatite/genética , Doença Aguda , Doença Crônica , Regulador de Condutância Transmembrana em Fibrose Cística/genética , Predisposição Genética para Doença/epidemiologia , Predisposição Genética para Doença/genética , Humanos , Pancreatite/diagnóstico , Pancreatite/etiologia , Mutação Puntual/genéticaRESUMO
Renal salt wasting secondary to 11-beta-hydroxylase deficiency (11-beta-OHD) has been described in a few patients. This report describes an infant with 11-beta-OHD initially thought to be in adrenal crisis with renal salt wasting. Subsequently the sodium loss was found to be due to a secretory diarrhea, and this prompted us to critically review the literature of the previous case reports. In none has the entity of renal salt wasting secondary to 11-beta-OHD been unequivocally confirmed. The entity should remain in doubt until proven by appropriate studies in the future.
Assuntos
Hiperplasia Suprarrenal Congênita , Hiponatremia/etiologia , Rim/metabolismo , Sódio/metabolismo , Desidratação/etiologia , Desidratação/terapia , Diarreia/complicações , Hidratação , Humanos , Hidrocortisona/uso terapêutico , Hiponatremia/terapia , Lactente , MasculinoRESUMO
We have studied the effect of exogenous calcitonin gene-related peptide on net fluxes of water and electrolytes in the rat small and large intestine. In ligated intestinal loops, intravenous calcitonin gene-related peptide (CGRP) induced colonic fluid secretion but had no effect on the small intestine. Subsequently, using a single-pass perfusion technique, we observed an immediate dose-dependent secretion of water by the rat colon upon intravenous administration of CGRP. Net secretion of sodium, potassium, and chloride were also raised. The implications of these observations for the possible involvement of high circulation concentrations of CGRP in the watery diarrhea syndrome accompanying medullary thyroid carcinoma are discussed.