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Fat-soluble vitamins in infants identified by cystic fibrosis newborn screening

R J Sokol1, M C Reardon, F J Accurso

  • 1Department of Pediatric Gastroenterology and Nutrition, University of Colorado Health Sciences Center, Denver.

Insights

Fat-soluble vitamin deficiencies, including vitamins A, D, and E, are common in infants with cystic fibrosis (CF) at diagnosis. Early supplementation effectively corrects these deficiencies within the first year of life.

Area of Science:

  • Biochemistry
  • Pediatrics
  • Nutritional Science

Background:

  • Infants diagnosed with cystic fibrosis (CF) via newborn screening often present with nutritional deficiencies.
  • Fat-soluble vitamin status is a critical concern in early CF management.

Purpose of the Study:

  • To assess the prevalence of fat-soluble vitamin deficiencies in infants with CF at diagnosis.
  • To evaluate the efficacy of supplementation on vitamin status and biochemical markers in these infants.

Main Methods:

  • Assessed fat-soluble vitamin status in 36 infants with CF diagnosed through newborn screening.
  • Monitored serum albumin, retinol, 25-hydroxyvitamin D, and PIVKA testing post-supplementation.

Main Results:

  • At diagnosis, 21% had vitamin A, 35% vitamin D, and 38% vitamin E deficiency; none had vitamin K deficiency.
  • Supplementation normalized serum albumin, retinol, and 25-hydroxyvitamin D, and PIVKA testing by 6-12 months.
  • Some patients showed persistent vitamin E deficiency, potentially due to compliance issues.

Conclusions:

  • Biochemical evidence of fat-soluble vitamin deficiency is prevalent in infants with CF before 3 months of age.
  • Supplementation in the first year of life is effective in correcting these deficiencies.
  • Monitoring and ensuring compliance are crucial for optimal vitamin status in infants with CF.

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