RESUMO
We describe 2 patients with adult-onset type II citrullinemia who developed transient hypoproteinemia and jaundice in early infancy. Liver histology showed a marked fatty change and fibrosis. After the patients had lived without symptoms to the ages of 5 and 16 years, respectively, the diagnosis was made by genetic analysis.
Assuntos
Citrulinemia/diagnóstico , Adolescente , Biópsia , Pré-Escolar , Citrulinemia/genética , Citrulinemia/patologia , Fígado Gorduroso/patologia , Feminino , Genótipo , Humanos , Fígado/patologia , Masculino , Mutação Puntual , Reação em Cadeia da PolimeraseRESUMO
OBJECTIVES: Corticosteroids are considered to be contraindicated during the acute phase of Kawasaki disease (KD) based on unfavorable results in early studies. In our hospital, however, corticosteroids have been used in some cases of KD with satisfactory results. We analyzed outcomes of patients with KD treated with or without corticosteroids. STUDY DESIGN: Medical records of 299 children with KD treated with one of the 4 regimens were reviewed retrospectively. Regimen 1 consisted of aspirin, dipyridamole, and propranolol; regimen 2 was regimen 1 plus prednisolone, 2 mg/kg/d, for 1 week, followed by tapering over 2 weeks; regimen 3 was regimen 1 plus intravenous gamma-globulin (IVGG), 200 or 400 mg/kg/d, for 5 consecutive days; and regimen 4 was regimen 1 plus both prednisolone and IVGG. RESULTS: Although patients treated with regimens 2 and 4 were more ill at presentation than those treated with regimens 1 and 3, respectively, the duration of fever was shorter in the former patient groups (P =.0013). Coronary aneurysms developed least frequently in patients treated with regimen 4 and less frequently with regimen 2 than with regimen 1 (P =.0730). Multiple regression analysis showed significant reductions of fever and coronary aneurysm incidence with prednisolone (P <.0001 and P =.0307, respectively). CONCLUSION: Our data suggest a possible role of corticosteroids in the treatment of the acute phase of KD.
Assuntos
Glucocorticoides/administração & dosagem , Síndrome de Linfonodos Mucocutâneos/tratamento farmacológico , Prednisolona/administração & dosagem , Doença Aguda , Aspirina/administração & dosagem , Pré-Escolar , Aneurisma Coronário/complicações , Dipiridamol/administração & dosagem , Quimioterapia Combinada , Feminino , Humanos , Imunoglobulinas Intravenosas/uso terapêutico , Masculino , Síndrome de Linfonodos Mucocutâneos/complicações , Propranolol/administração & dosagem , Estudos RetrospectivosRESUMO
Chronic intestinal pseudo-obstruction describes a heterogeneous group of disorders characterized by signs and symptoms of intestinal obstruction in the absence of a mechanical lesion. We studied antroduodenal motility in 13 children with pseudo-obstruction. The diagnosis was based on radiographic evidence in all, surgery in 11, and specific pathologic features in four. Antroduodenal motility was abnormal in all 13. Qualitative abnormalities in the patterns of antroduodenal contractions permitted separation into groups: (1) postprandial hypomotility (n = 3), (2) absent migrating motor complexes, with phase 3-like activity at the start of meals (neuropathic variety) (n = 5) (3) very low amplitude or absent contractions (myopathic variety) (n = 2); the remaining patients (n = 3) had other distinctive abnormalities. Cisapride, a new gastrointestinal prokinetic drug, stimulated proximal duodenal contractions in the 30 minutes after a meal in nine of 10 patients tested. These studies indicate that antroduodenal manometry is useful for characterizing intestinal pseudo-obstruction, and cisapride stimulates postprandial duodenal contractions in patients with pseudo-obstruction.