Cholestasis and meconium ileus in infants with cystic fibrosis and their clinical outcomes

Abstract

Objective: To identify the incidence and outcomes of cholestasis and meconium ileus (MI) in infants with cystic fibrosis (CF).

Design: Retrospective cohort study.

Setting: Single-centre study.

Patients: From January 1986 to December 2011, 401 infants with CF (69 with MI) presented to our centre.

Main outcome measurements: (1) incidence of cholestasis, (2) identification of risk factors for cholestasis, (3) association between the presence of cholestasis and MI and the development of clinically significant CF-associated liver disease (CFLD) defined as multilobular cirrhosis with portal hypertension.

Results: Cholestasis occurred in 23 of 401 infants (5.7%). There was a significantly higher incidence of cholestasis in infants with MI (27.1%) compared to those without MI (1.2%) (p<0.001). Infants with MI had a 30.36-fold increased risk of developing cholestasis compared to those without MI (p<0.001). Cholestasis resolved in all children, at a median (range) age of 9.2 (0.8-53.2) months in the MI group and 10.2 (2.0-19.4) months in the non-MI group. The majority of cholestatic infants (87.0%) and infants with MI (92.8%) did not develop clinically significant CFLD, not significantly different than either the 93.9% of non-cholestatic infants nor the 93.7% infants without MI.

Conclusions: Cholestasis is an uncommon condition in CF affecting only 5.7% of the screened newborn CF population. The greatest risk factor for developing cholestasis is the presence of MI. However, the presence of MI appears not to be associated with the development of CFLD. An effect of neonatal cholestasis on the development of CFLD cannot be excluded by this study.

Keywords: Cholestasis; Cystic Fibrosis; Liver disease; Meconium ileus; Newborn screening.