From lip to lab: salty tasting skin is the main clue that raises clinical suspicion of cystic fibrosis in young infants.

AIM

This study developed a clinical decision rule (CDR) to rule in or rule out cystic fibrosis (CF) in the first weeks of life.

METHODS

We combined a two-step nonconcurrent birth cohort and a cross-sectional controlled study in which observers and mothers were blinded to confirmatory sweat test results. Neonates from uncomplicated pregnancies and deliveries, with two subsequent tests for immunoreactive trypsinogen (IRT) higher than 70 ng/mL, were eligible to take part.

RESULTS

We included 49 CF-affected and 177 CF-unaffected infants with an average age of 34 days. CF-affected infants demonstrated statistically significant differences in weight gain, stool frequency and salty tasting skin from birth. Multivariate analysis showed that the main predictors of CF were salty tasting skin (odds ratio 17.2) and weight gain of <10.5 g per day (odds ratio 4.6). Depending on the CDR score, we obtained the following results: sensitivity (42.9-61.2%), specificity (89.6-96.5%), positive (62.5-77.8%) and negative (85.6-89.1%) predictive value and positive (5.8-12.3) and negative (0.4-0.6) likelihood ratio.

CONCLUSION

The CDR could provide a reliable index of clinical suspicion and timely referral for sweat testing in settings without newborn screening programmes and may also be applied to false-negative individuals where such programmes already exist.