RESUMEN
We report the case of a 5-years old child referred to the pediatric clinic due to a prolonged history of recurrent otitis. Initial immunologic investigation was normal but a severe C3 complement deficiency was detected by the absence of beta 2-globulin protein fraction using serum protein capillary electrophoresis. C3 was not detected in serum and total complement haemolytic activity was decreased. His mother and father had half of the C3 normal plasma level and a heterozygous mutation of the C3 gene. The diagnosis of hereditary deficiency of the third complement component (C3) with compound heterozygous mutation of the gene was made. This defect in complement protein C3, described to date in only 20 families in the world, is associated with repeated infections. The child is treated with oracillin with relatively good control of symptoms.
Asunto(s)
Proteínas Sanguíneas/aislamiento & purificación , Complemento C3/deficiencia , Complemento C3/genética , Complemento C3/uso terapéutico , Preescolar , Complemento C3/metabolismo , Femenino , Heterocigoto , Humanos , Inmunoglobulinas/sangre , Recuento de Leucocitos , Recuento de Linfocitos , Masculino , Mutación , Otitis/sangre , Otitis/inmunología , Recurrencia , Valores de ReferenciaRESUMEN
UNLABELLED: Respiratory muscle weakness associated with scoliosis in neuromuscular disease leads to respiratory impairment. Children with scoliosis are usually treated with spinal bracing to delay the progress of disease. We studied the impact of spinal bracing on lung function in these children. METHODS: Retrospective study of patient data from January 1997 to January 2003. Spirometry and measurement of lung volume involved 32 observations, corresponding to 17 children with neuromuscular disease, including 14 with spinal muscular atrophy. Data for children with and without a brace were studied. RESULTS: A total of 72% of the children had severe scoliosis (Cobb score>30 degrees ); 40% wore a Garchois brace. Children without a brace showed a mean vital capacity of 65% of predicted value, with a restrictive syndrome in 44% of observations. Children with a brace showed significantly reduced vital capacity (-4.6%; P<0.001) and forced expiratory volume in 1 s (-4.6%; P=0.002). The reduced vital capacity was lower in children with the Garchois brace: -1% (P=0.02). Severity of scoliosis and measured volumes were not related. CONCLUSION: Spinal bracing in children with neuromusclar disease leads to significant respiratory impairment. Assessment of pulmonary function is necessary when a brace is indicated. The Garchois brace might lead to less impairment of respiratory function.
Asunto(s)
Tirantes , Pulmón/fisiopatología , Enfermedades Neuromusculares/fisiopatología , Enfermedades Neuromusculares/terapia , Escoliosis/fisiopatología , Escoliosis/terapia , Adolescente , Niño , Femenino , Humanos , Mediciones del Volumen Pulmonar , Masculino , Enfermedades Neuromusculares/complicaciones , Estudios Retrospectivos , Escoliosis/etiología , Atrofias Musculares Espinales de la Infancia/complicaciones , Atrofias Musculares Espinales de la Infancia/fisiopatología , Atrofias Musculares Espinales de la Infancia/terapia , EspirometríaRESUMEN
Exercise testing provides information on physical capacity during exercise in addition to spirometric measures of lung function or assessment on treadmills or ergonomic cycle. The "gold standard" assessment of exercise tolerance is measured in the laboratory using treadmills or ergonomic cycle but the necessary equipment is expensive and may not be readily accessible; such tests require people used to work with children. Walking tests are field tests providing a valid and easily accessible method of measuring function-limited exercise tolerance in patients with respiratory or cardiac chronic diseases. These walking tests are non-threatening, inexpensive, easy to perform and to understand for children. Walking tests performed in daily practice are the following: "time-based" tests (2-, 6- or 12-min walking test), 3-min step test (on a step) and the shuttle walking test. It may be a useful measure to assess therapeutic intervention and provide information on the prognosis. They are simple and safe methods to evaluate quality of life in these patients.
Asunto(s)
Prueba de Esfuerzo/métodos , Caminata , Adolescente , Adulto , Fenómenos Fisiológicos Cardiovasculares , Niño , Fibrosis Quística/diagnóstico , Fibrosis Quística/fisiopatología , Estudios de Seguimiento , Humanos , Enfermedades Pulmonares Obstructivas/diagnóstico , Enfermedades Pulmonares Obstructivas/fisiopatología , Valor Predictivo de las Pruebas , Pronóstico , Calidad de Vida , Fenómenos Fisiológicos Respiratorios , Factores de TiempoRESUMEN
Pulmonary tuberculosis is an endemic infection. Chest radiography is the mainstay in the evaluation of pulmonary tuberculosis. High resolution CT is required to detect fine lesions overlooked on chest radiographs, to define equivocal lesions, to determine disease activity in some cases and to evaluate complications or sequels. We review indications of chest radiograph and CT, the radiologic features of primary and post-primary tuberculosis, and outcome of tuberculous lesions.