ABSTRACT
RATIONALE: Progressive lung damage in cystic fibrosis (CF) starts in infancy, and early detection may aid preventative strategies. OBJECTIVES: To measure lung function in infants with CF diagnosed by newborn screening and describe its association with pulmonary infection and inflammation. METHODS: Infants with CF (n = 68, 6 weeks to 30 months of age) and healthy infants without CF (n = 49) were studied. Forced vital capacity, FEV(0.5), and forced expiratory flows at 75% of exhaled vital capacity (FEF(75)) were measured using the raised-volume rapid thoracoabdominal compression technique. Forty-eight hours later, infants with CF had bronchoalveolar lavage (BAL) for assessment of pulmonary infection and inflammation. MEASUREMENTS AND MAIN RESULTS: In the CF group, the deficit in FEV(0.5) z score increased by -0.77 (95% confidence interval, -1.14 to -0.41; P < 0.001) with each year of age. The mean FEV(0.5) z score did not differ between infants with CF and healthy control subjects less than 6 months of age (-0.06 and 0.02, respectively; P = 0.87). However, the mean FEV(0.5) z score was lower by 1.15 in infants with CF who were older than 6 months of age compared with healthy infants (P < 0.001). FVC and FEF(75) followed a similar pattern. Pulmonary infection and inflammation in BAL samples did not explain the lung function results. CONCLUSIONS: Lung function, measured by forced expiration, is normal in infants with CF at the time of diagnosis by newborn screening but is diminished in older infants. These findings suggest that in CF the optimal timing of therapeutic interventions aimed at preserving lung function may be within the first 6 months of life.
Subject(s)
Cystic Fibrosis/physiopathology , Forced Expiratory Volume/physiology , Mass Screening/methods , Vital Capacity/physiology , Bronchoalveolar Lavage Fluid/cytology , Bronchoscopy , Cell Count , Child, Preschool , Cystic Fibrosis/diagnosis , Female , Humans , Infant , Infant, Newborn , Male , Prognosis , Severity of Illness IndexABSTRACT
Bronchopulmonary foregut malformations are a group of rare congenital anomalies affecting the respiratory and upper gastrointestinal tract. The rarity of these cases means their embryological origin continues to be a source of controversy. We present the case of a female infant, born at term with a malformed right arm, an absent right kidney and aplasia of the right lung. Although initially asymptomatic she presented at 5 months of age in severe respiratory distress. An upper gastro-intestinal contrast study demonstrated a right broncho-esophageal fistula. At surgical resection it was discovered that the right main bronchus ended abruptly just beyond the carina, with total aplasia of the right lung. A bronchoesophageal fistula originating from the lower third of the esophagus communicated with a sequestered right lobe. The lobe was removed and the fistula ligated. The infant remains well 13 months post surgery. This represents only the twelfth case of this rare form of bronchopulmonary foregut malformation. The associated renal and limb malformations make this case unique and may add weight to the theory that the underlying insult to the developing lung is vascular in origin.
