RESUMO
OBJECTIVES: To evaluate children with cystic fibrosis (CF) who had a late diagnosis of CF (LD-CF) despite newborn screening (NBS) and compare their clinical outcomes with children diagnosed after a positive NBS (NBS-CF). STUDY DESIGN: A retrospective review of patients with LD-CF in New South Wales, Australia, from 1988 to 2010 was performed. LD-CF was defined as NBS-negative (negative immunoreactive trypsinogen or no F508del) or NBS-positive but discharged following sweat chloride < 60 mmol/L. Cases of LD-CF were each matched 1:2 with patients with NBS-CF for age, sex, hospital, and exocrine pancreatic status. RESULTS: A total of 45 LD-CF cases were identified (39 NBS-negative and 6 NBS-positive) with 90 NBS-CF matched controls. Median age (IQR) of diagnosis for LD-CF and NBS-CF was 1.35 (0.4-2.8) and 0.12 (0.03-0.2) years, respectively (P <.0001). Estimated incidence of LD-CF was 1 in 45 000 live births. Compared with NBS-CF, LD-CF had more respiratory manifestations at time of diagnosis (66% vs 4%; P <.0001), a higher rate of hospital admission per year for respiratory illness (0.49 vs 0.2; P = .0004), worse lung function (forced expiratory volume in 1 second percentage of predicted, 0.88 vs 0.97; P = .007), and higher rates of chronic colonization with Pseudomonas aeruginosa (47% vs 24%; P = .01). The LD-CF cohort also appeared to be shorter than NBS-CF controls (mean height z-score -0.65 vs -0.03; P = .02). CONCLUSIONS: LD-CF, despite NBS, seems to be associated with worse health before diagnosis and worse later growth and respiratory outcomes, thus providing further support for NBS programs for CF.
Assuntos
Fibrose Cística/diagnóstico , Diagnóstico Tardio/efeitos adversos , Hospitalização/estatística & dados numéricos , Triagem Neonatal/métodos , Avaliação de Resultados em Cuidados de Saúde , Fatores Etários , Fibrose Cística/mortalidade , Fibrose Cística/terapia , Bases de Dados Factuais , Progressão da Doença , Feminino , Humanos , Recém-Nascido , Masculino , New South Wales , Prognóstico , Testes de Função Respiratória , Estudos Retrospectivos , Medição de Risco , Índice de Gravidade de Doença , Fatores Sexuais , Taxa de SobrevidaRESUMO
OBJECTIVE: To assess whether elevated resting energy expenditure (REE) in female patients with cystic fibrosis (CF) persists longitudinally during late childhood and puberty. STUDY DESIGN: REE and body composition were measured 3 times in 2 years in 86 children with CF. Pubertal status, bacterial colonization, liver disease, pancreatic and pulmonary function, and genotype were determined, and linear mixed model analyses were used to determine predictors and changes in REE longitudinally. RESULTS: REE did not change with time allowing for fat free mass, pancreatic insufficiency (PI), or severe mutations. Pulmonary function and liver disease were not significant predictors of REE. Percentage predicted REE compared with control data was higher (P = .002) in female patients with CF (109.5%) and lower in male patients with CF (104%) and persisted with time. In post-menarchal female patients with CF, REE adjusted for fat free mass was 366 kJ/d lower than in pre-menarchal female patients, but still 112% predicted. CONCLUSIONS: This longitudinal study demonstrates that REE is elevated in patients with CF with PI and severe mutations. The elevation of percentage predicted REE was greater in female patients than male patients and persisted for 2 years, and during pubertal maturation, independent of pulmonary and liver disease. These results highlight the need for a high-energy diet throughout childhood and adolescence, particularly in female patients with PI.
Assuntos
Fibrose Cística/metabolismo , Metabolismo Energético/fisiologia , Descanso/fisiologia , Adolescente , Composição Corporal , Estudos de Casos e Controles , Criança , Pré-Escolar , Fibrose Cística/complicações , Fibrose Cística/fisiopatologia , Feminino , Humanos , Estudos Longitudinais , Masculino , Fatores Sexuais , Fatores de TempoRESUMO
OBJECTIVES: To determine whether early treatment of cystic fibrosis made possible by diagnosis after newborn screening results in improved pulmonary outcomes in adolescence. STUDY DESIGN: Both screening (SG) and non-screening groups (NSG) comprised a cohort of children from Australia previously studied at 1, 5, and 10 years of age. The groups were compared on measures of clinical status obtained during their comprehensive annual review conducted at or near the 15th birthday of the subjects. RESULTS: Data were collected on 48 of 57 original subjects in the NSG (7 had died; 2 were lost to follow-up) and 52 of 60 original subjects in the SG (4 had died; 2 transferred out of the country; 2 were lost to follow-up). Those dying in the SG were significantly older (by 48 months, P < .05) than those in the NSG. No statistically significant differences were found between the groups in nutritional status. However, subjects in the SG displayed statistically better total Shwachman-Kulczycki scores (7.0, P Assuntos
Fibrose Cística/diagnóstico
, Triagem Neonatal/organização & administração
, Adolescente
, Fatores Etários
, Estatura
, Peso Corporal
, Criança
, Mortalidade da Criança
, Transtornos da Nutrição Infantil/etiologia
, Pré-Escolar
, Fibrose Cística/complicações
, Fibrose Cística/mortalidade
, Fibrose Cística/terapia
, Diagnóstico Precoce
, Medicina Baseada em Evidências
, Feminino
, Seguimentos
, Volume Expiratório Forçado
, Humanos
, Recém-Nascido
, Masculino
, New South Wales/epidemiologia
, Estado Nutricional
, Avaliação de Resultados em Cuidados de Saúde
, Índice de Gravidade de Doença
, Espirometria
, Taxa de Sobrevida
, Capacidade Vital
RESUMO
OBJECTIVES: To evaluate which factors might contribute to raised resting energy expenditure (REE) in patients with cystic fibrosis (CF). STUDY DESIGN: REE and anthropometry were measured in 134 (males = 68) children with CF and 100 (males = 51) controls (range, 3-18.7 years) in an outpatient setting. Bacterial colonization, liver disease, inhaled steroid use, pancreatic and pulmonary function, sex, and genotype were determined and regression analysis was used to determine the predictors of REE in the group with CF. RESULTS: REE for children with CF was increased on average by 7.2% compared with controls. This increase was greater for females than for males. REE in males was positively associated with fat-free mass (FFM), pancreatic insufficiency (PI), and liver disease, and negatively associated with pulmonary function, whereas in females, REE was positively associated with FFM and PI. REE (adjusted for FFM) was higher in children with a severe mutation (5495 +/- 47 kJ) compared with a mild mutation (5,176 +/- 124 kJ, P <.02). CONCLUSIONS: PI, severe mutations, and female sex are the main contributing factors to elevated REE in patients with CF with near normal pulmonary function.