Objective: To characterize the energy and nutrient intake, and the degree of fat malabsorption in children with Alagille syndrome (AGS) and to examine their cross-sectional associations with growth and nutritional status.
Methods: Prepubertal children with AGS were evaluated for dietary intake, growth, bone age, and body composition. Children and their families collected a three-day, weighed diet record at home. Stools were collected for 72 hours and the coefficient of fat absorption (COA) was determined.
Results: Children (mean age 6.7 +/- 3.6 years) with AGS (n = 26) had low height-for-age z-scores (HAZ), weight-for-age z-scores (WAZ) (-1.9 +/- 1.3 and -1.7 +/- 1.1, respectively), and delayed skeletal maturation (-1.4 +/- 1.8 years). Fifty-eight percent of the subjects were less than the 5th percentile for height and 54% were less than the 5th percentile for weight. At least 20% of children with AGS had low dietary intake for several nutrients including: calories, fat, calcium, vitamin D, and vitamin E. Children who consumed <2/3 Dietary Reference Intake (DRI) for calcium (n = 6) had a statistically significantly lower HAZ (-3.2 +/- 1.3) than those who consumed >2/3 DRI (-1.5 +/- 1.0), (P < 0.003). Ninety-six percent of the subjects had steatorrhea with a mean COA of 75 +/- 16%.
Conclusions: These data suggest that prepubertal children with AGS are at-risk for poor nutrient intake which, compounded with steatorrhea, may have a negative effect on growth and nutritional status. Intervention studies to increase energy and nutrient intake are needed to determine the effect of improved dietary intake on growth and nutritional status of children with AGS.