NUTRITIONAL AND PULMONARY ABNORMALITIES AT THE TIME OF DIAGNOSIS OF CYSTIC FIBROSIS IN INFANTS IDENTIFIED BY NEONATAL SCREENING

Abstract

The status of patients with cystic fibrosis (CF) prior to overt symptomatology is poorly described. Early identification of CF infants through neonatal screening using the immunoreactive trypsinogen assay followed by sweat testing allowed us to evaluate CF patients prior to onset of overt symptoms. Seventeen CF infants (mean age 5.7 weeks) without acknowledged symptoms were studied prior to medical intervention to determine their nutritional and pulmonary status. Eight infants decreased weight percentile from birth to diagnosis despite adequate caloric intake (mean intake 160 cal/kg/day). Triceps skin fold thicknesses were less than the 50th percentile for all infants measured. Three infants had significantly low serum albumin and/or total protein values. Even more strikingly, the group's mean level of prealbumin, a rapid-turnover protein, was significantly (p<.05) lower than that of age-matched normals. In addition, two of 12 infants became hypoxic during sleep, decreasing their transcutaneous PO₂ to less than 40 torr. Four infants without previously acknowledged lung disease had abnormal chest x-rays, showing hyperexpansion, linear markings of bronchial cuffing and infiltrates. We conclude that abnormalities of growth, protein metabolism and pulmonary function exist in infants with CF prior to the onset of marked clinical symptomatology. We speculate that some of these deficits may be reversible with medical intervention.

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