RESUMO
OBJECTIVES: To measure resting energy expenditure (REE) and determine whether increased REE (hypermetabolism) is associated with failure to thrive (FTT) in patients with severe combined immunodeficiency (SCID) at diagnosis. STUDY DESIGN: REE was measured in 26 patients with SCID in a single transplant center. Predicted REE was determined with World Health Organization standards. Measured REE >110% of predicted REE was classified as hypermetabolism. Other data collected included FTT status, infections, genotype, phenotype, and the feeding methods used. RESULTS: Fifteen of 26 patients (57.7%) had FTT, and 18 of 26 patients (69.2%) were hypermetabolic. Hypermetabolism occured in 14 of 15 patients (93%) with FTT, and only 4 of 11 patients (36%) without FTT had hypermetabolism (P = .003). There was a significant difference between the measured REE (71.75 ± 16.6 kcal/kg) and the predicted REE (52.85 ± 2.8 kcal/kg; P < .0001). Eleven of 17 patients (65%) required nasogastric feeding, parenteral nutrition, or both to meet their energy needs. CONCLUSIONS: Hypermetabolism is common in patients with SCID and may contribute to the development of FTT. The hypermetabolism in these patients may necessitate intensive nutrition support.
Assuntos
Metabolismo Energético/fisiologia , Insuficiência de Crescimento/fisiopatologia , Descanso/fisiologia , Imunodeficiência Combinada Severa/fisiopatologia , Calorimetria Indireta , Diarreia/epidemiologia , Insuficiência de Crescimento/terapia , Fezes/virologia , Humanos , Lactente , Fórmulas Infantis , Recém-Nascido , Infecções/epidemiologia , Intubação Gastrointestinal , Modelos Logísticos , Mutação , Nutrição Parenteral , Pneumonia/epidemiologia , Receptores de Interleucina-2/genética , Estudos RetrospectivosRESUMO
We describe a patient with severe combined immunodeficiency because of aberrations in adenosine deaminase (ADA) who despite adequate replacement with polyethylene glycol-linked ADA (PEG-ADA) for 13 years developed Burkitt's lymphoma. Although treatment corrected the metabolic abnormalities caused by ADA deficiency, it failed to fully restore cellular immunity.
Assuntos
Adenosina Desaminase/deficiência , Adenosina Desaminase/uso terapêutico , Linfoma de Burkitt/complicações , Polietilenoglicóis/uso terapêutico , Imunodeficiência Combinada Severa/complicações , Imunodeficiência Combinada Severa/tratamento farmacológico , Adolescente , Linfoma de Burkitt/diagnóstico , Linfoma de Burkitt/tratamento farmacológico , Relação Dose-Resposta a Droga , Esquema de Medicação , Feminino , Seguimentos , Humanos , Medição de Risco , Imunodeficiência Combinada Severa/diagnóstico , Índice de Gravidade de Doença , Resultado do TratamentoRESUMO
To study the correlation between genotype and phenotype in x-linked SCID, we have characterized the presentation of 2 unrelated patients. Both had infections suggestive of immunodeficiency, but their immune function and lymphoid tissues were normal. They were found to have an identical R222C mutation in the gammac gene.