RESUMO
OBJECTIVE: To evaluate lung transplantation for treatment of surfactant protein B (SP-B) deficiency. STUDY DESIGN: We compared surfactant composition and function from pretransplantation and posttransplantation samples of bronchoalveolar lavage fluid, somatic and lung growth, neurodevelopmental progress, pulmonary function, and pulmonary immunohistology in 3 infants with SP-B deficiency who underwent bilateral lung transplantation at 2 months of age and 3 infants who underwent lung transplantation for other reasons. RESULTS: Two years after transplantation, the 2 surviving infants with SP-B deficiency exhibited comparable somatic growth and cognitive development to the comparison infants. All infants had delays in gross motor development that improved with time. Both groups have exhibited normal gas exchange, lung growth, and pulmonary function. The SP-B-deficient infants have also exhibited normal SP-B expression and pulmonary surfactant function after lung transplantation. In two SP-B-deficient infants antibody to SP-B developed. No pathologic consequences of this antibody were identified. CONCLUSIONS: Apart from the development of anti-SP-B antibody, the outcomes for SP-B-deficient infants after lung transplantation are similar to those of infants who undergo lung transplantation for other reasons. Lung transplantation offers a successful interim therapy until gene replacement for this disease is available.
Assuntos
Transplante de Pulmão , Proteolipídeos , Surfactantes Pulmonares/deficiência , Síndrome do Desconforto Respiratório do Recém-Nascido/cirurgia , Anticorpos/sangue , Líquido da Lavagem Broncoalveolar/química , Feminino , Humanos , Terapia de Imunossupressão/métodos , Lactente , Recém-Nascido , Pulmão/patologia , Pulmão/fisiopatologia , Transplante de Pulmão/imunologia , Transplante de Pulmão/patologia , Transplante de Pulmão/fisiologia , Complicações Pós-Operatórias/epidemiologia , Proteolipídeos/análise , Proteolipídeos/imunologia , Surfactantes Pulmonares/análise , Surfactantes Pulmonares/imunologia , Síndrome do Desconforto Respiratório do Recém-Nascido/imunologia , Síndrome do Desconforto Respiratório do Recém-Nascido/patologia , Sobreviventes , Resultado do TratamentoRESUMO
OBJECTIVE: Juvenile xanthogranuloma (JXG) with systemic (extracutaneous) involvement is a rare histiocytic disorder in which significant morbidity and occasional deaths may occur. The objective of this study was to characterize the spectrum of anatomic involvement, associated clinical problems, and management considerations in children with systemic JXG. STUDY DESIGN: Two current cases and literature reports of 34 children with various forms of systemic AG were analyzed with respect to age, clinical presentation, site(s) of involvement, therapy, and outcome. RESULTS: The median age of the 36 patients was 0.3 years (range, birth to 12 years). Symptoms were usually referable to bulky or infiltrative disease. Twenty patients had disease in two or more sites. Cutaneous lesions were present in fewer than half the patients. The most frequent extracutaneous sites of disease were the subcutaneous soft tissue (12); central nervous system (8); liver/spleen (8); lung (6); eye/orbit, oropharynx, and muscle (4 each); with three or fewer instances of disease in each of several other sites. Most patients were treated with excision or had spontaneous regression (some with organ involvement). However, 12 patients received treatment that included radiation or systemic chemotherapy. Survivors, some with long-term disabilities, included young children who had received radiation therapy to the brain, eye, skin, or heart. Two patients died of disease. CONCLUSIONS: Systemic AG may involve varying numbers and combinations of extracutaneous sites. The extent of disease should be determined in patients with AG who are suspected to have systemic involvement. In contrast to the cutaneous form, systemic AG may be associated with significant complications requiring aggressive medical care. When feasible, surgical excision of lesions may be curative. Optimal treatment for symptomatic, unresectable disease is currently undefined but should be selected to minimize toxic effects in these children who are typically younger than 1 year old at presentation.
Assuntos
Xantogranuloma Juvenil/patologia , Anti-Inflamatórios/administração & dosagem , Anti-Inflamatórios/uso terapêutico , Encefalopatias/patologia , Criança , Pré-Escolar , Ciclosporina/administração & dosagem , Ciclosporina/uso terapêutico , Etoposídeo/administração & dosagem , Etoposídeo/uso terapêutico , Humanos , Imunossupressores/administração & dosagem , Imunossupressores/uso terapêutico , Lactente , Recém-Nascido , Hepatopatias/patologia , Pneumopatias/patologia , Masculino , Prednisona/administração & dosagem , Prednisona/uso terapêutico , Remissão Espontânea , Pele/patologia , Esplenopatias/patologia , Taxa de Sobrevida , Resultado do Tratamento , Vimblastina/administração & dosagem , Vimblastina/uso terapêutico , Xantogranuloma Juvenil/fisiopatologia , Xantogranuloma Juvenil/cirurgia , Xantogranuloma Juvenil/terapiaRESUMO
OBJECTIVE: To catalog and evaluate patterns of disease in families of children with pleuropulmonary blastoma (PPB). METHODS: Data have been collected since 1988 on 45 children with PPB and their families. All pathologic materials were centrally reviewed. Preliminary molecular genetic analyses were performed when possible. RESULTS: In 12 of 45 patients, an association was found between PPB and other dysplasias, neoplasias, or malignancies in the patients with or in their young relatives. The diseases found to be associated with PPB include other cases of PPB, pulmonary cysts, cystic nephromas, sarcomas, medulloblastomas, thyroid dysplasias and neoplasias, malignant germ cell tumors, Hodgkin disease, leukemia, and Langerhans cell histiocytosis. Abnormalities of the p53 tumor suppressor gene, Wilms tumor suppressor gene (WT1), and the putative second genetic locus for Wilms tumor (WT2) were not found in preliminary investigations. CONCLUSIONS: The occurrence of PPB appears to herald a constitutional and heritable predisposition to dysplastic or neoplastic disease in approximately 25% of cases. All patients with PPB and their families should be investigated carefully. Further research of this new family cancer syndrome may provide insight into the genetic basis of these diseases.