RESUMO
Very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency is a disorder of fatty acid beta oxidation that reportedly has high rates of morbidity and mortality. We describe the outcome of a 5-year-old girl with VLCAD deficiency who was first seen at 5 months of age with severe hypertrophic cardiomyopathy, hepatomegaly, encephalopathy, and hypotonia. Biochemical studies indicated VLCAD deficiency caused by a stable yet inactive enzyme. Molecular genetic analysis of her VLCAD gene revealed a T1372C (F458L) missense mutation and a 1668 ACAG 1669 splice site mutation. After initial treatment with intravenous glucose and carnitine, the patient has thrived on a low-fat diet supplemented with medium-chain triglyceride oil and carnitine and avoidance of fasting. Her ventricular hypertrophy resolved significantly over 1 year, and cognitively, she is in the superior range for age. Clinical recognition of VLCAD deficiency is important because it is one of the few directly treatable causes of cardiomyopathy in children.
Assuntos
Cardiomiopatia Hipertrófica/etiologia , Ácidos Graxos Dessaturases/deficiência , Erros Inatos do Metabolismo/genética , Erros Inatos do Metabolismo/terapia , Acil-CoA Desidrogenase de Cadeia Longa , Cardiomiopatia Hipertrófica/metabolismo , Cardiomiopatia Hipertrófica/terapia , Pré-Escolar , Análise Mutacional de DNA , Feminino , Humanos , Erros Inatos do Metabolismo/complicações , Erros Inatos do Metabolismo/dietoterapia , Mutação , Testes Neuropsicológicos , Resultado do TratamentoRESUMO
The recommended treatment for pertussis is erythromycin, 40 to 50 mg/kg per day for 2 weeks. The newly developed macrolides, clarithromycin and azithromycin, have been demonstrated to be superior to erythromycin because of improved absorption and a longer half-life. As a result, we conducted two separate comparison studies to evaluate the efficacies of clarithromycin, 10 mg/kg per day, twice a day for 7 days, and azithromycin, 10 mg/kg per day, once a day for 5 days, compared with the standard erythromycin regimen. A total of 17 patients, including 10 infants 1 year of age or less, for whom pertussis had been confirmed by culture, were allocated to receive either clarithromycin or azithromycin treatment, and each patient was matched (age, sex, and immunization status) with historical control subjects who had been treated with erythromycin. Eradication rates examined at 1 week after treatment were as follows: 9 of 9 with clarithromycin versus 16 of 18 with erythromycin (psi M-H = 1.13), and 8 of 8 with azithromycin versus 13 of 16 with erythromycin (psi M-H = 1.23). No bacterial relapse after treatment was detected in either group. All isolated strains of Bordetella pertussis were susceptible to clarithromycin, azithromycin, and erythromycin, and no change in drug susceptibility has been confirmed for the past 20 years in Japan. Because of the very low incidence of pertussis resulting from widespread use of acellular pertussis vaccination, this study did not enroll a large number of patients; however we conclude that short-term treatment with clarithromycin or azithromycin is expected to be equal or superior to the standard long-term erythromycin regimen for pertussis.
Assuntos
Antibacterianos/uso terapêutico , Azitromicina/uso terapêutico , Claritromicina/uso terapêutico , Coqueluche/tratamento farmacológico , Adolescente , Antibacterianos/administração & dosagem , Azitromicina/administração & dosagem , Bordetella pertussis/efeitos dos fármacos , Criança , Pré-Escolar , Claritromicina/administração & dosagem , Esquema de Medicação , Feminino , Humanos , Lactente , Masculino , Testes de Sensibilidade Microbiana , Resultado do TratamentoRESUMO
Two types of acellular pertussis vaccine are used in Japan: the filamentous hemagglutinin (F-HA) predominant type and the pertussis toxin (PT)-F-HA type. We tested one lot of vaccine from each of three manufacturers (lots A and B, F-HA predominant type; lot C, PT-F-HA type). One hundred fifteen healthy children between the ages of 3 months and 23 months were immunized with one of the three lots of acellular pertussis vaccine to assess adverse reactions and antibody responses. The incidence of fever (temperature greater than or equal to 38 degrees C) was 2.6% for lot A, 1.2% for lot B, and 2.5% for lot C. The incidence of local reactions greater than 5 cm in diameter was 1.9% for lot A, 2.4% for lot B, and 3.3% for lot C. Thus no significant differences in adverse reaction were observed. The anti-PT antibody responses in the tested vaccines were equal to or greater than those in patients with pertussis in the convalescent stage, and the anti-F-HA antibody responses were far higher than those of convalescing patients. Lot C produced the highest anti-PT antibody, and Lot A the highest anti-F-HA antibody.
Assuntos
Vacina contra Coqueluche , Aglutininas/imunologia , Animais , Anticorpos Antivirais/análise , Relação Dose-Resposta Imunológica , Febre/etiologia , Humanos , Imunização Secundária/efeitos adversos , Lactente , Camundongos , Vacina contra Coqueluche/administração & dosagem , Vacina contra Coqueluche/efeitos adversos , Vacina contra Coqueluche/imunologia , Coqueluche/imunologiaRESUMO
To assess the efficacy of an acellular pertussis vaccine that has been used in Japan since 1981, 283 patients with pertussis were selected among patients with suspected pertussis seen at hospitals located around the Tokyo Metropolitan area from 1981 to 1983. The survey of secondary cases in household contacts showed that attack rates in children 0 to 6 years of age were 73.1% in unimmunized children, 15.0% in those fully immunized by whole-cell vaccines, and 15.4% in those given acellular vaccines. The efficacy of Japanese acellular pertussis vaccines was 79% and was not different from that of whole cell vaccines.