Pediatric Nutrition in Practice

3 Nutritional Challenges in Special Conditions and Diseases

Key Words

Cystic fibrosis · Nutritional status · Pancreatic

enzymes · Gastrostomy

Key Messages

• Survival from cystic fibrosis (CF) has substantially
  improved over the past four decades. The advance
  in nutritional management is one factor which has
  contributed to this change


• This chapter reviews the basic defect of CF and how
  it influences nutritional status


• Normal growth and development can be achieved
  in CF, and to this end, nutritional counseling is para-
  mount at all ages. The prevention and early detec-
  tion of growth failure is the key to successful nutri-
  tional counseling


• An approach to the CF patient who is not thriving
  and an outline of nutritional management is pro-
  posed © 2015 S. Karger AG, Basel

Introduction

Cystic fibrosis (CF) is the most common life-
threatening autosomal recessive disease in Cau-
casians with an incidence of 1 in 2,500 live births.
The disease is caused by mutations in the cftr gene
on chromosome 7, which codes for a cAMP-reg-
ulated chloride channel [1]. Nonfunctioning
CFTR protein affects epithelial ion and water

transport in a variety of organs including the re-

spiratory, gastrointestinal, hepatobiliary, repro-

ductive and sweat glands. The lack of CFTR func-

tion in the pancreatic duct is responsible for ob-

struction and autodigestion of the pancreas in

utero, leading to exocrine pancreatic insufficien-

cy (PI) in 85% of CF infants.

The early growth of infants with PI due to CF

is dependent on the age at diagnosis. Clinical di-

agnosis may be difficult unless meconium ileus

occurs, typically in only 15% of cases. The re-

maining patients are diagnosed later, mainly pre-

senting with failure to thrive with steatorrhea, ac-

companied in some cases with respiratory symp-

toms. An increasing number of countries have

initiated newborn screening for CF using a se-

rum marker of PI, and this has been shown to

facilitate an earlier diagnosis with better growth

and nutritional status [2]. Longer-term studies

after neonatal screening are now revealing re-

duced pulmonary disease progression [3].

Numerous studies have shown that under-

weight and poor linear growth in children and

malnutrition in adults are independent factors

predicting mortality [4, 5]. Together with this,

undernutrition has been shown to have an ad-

verse effect on the outcome of lung transplanta-

tion [6]. These data reinforce the importance of

the prevention and early detection of growth fail-

ure, leading to the aggressive management of nu-

Koletzko B, et al. (eds): Pediatric Nutrition in Practice. World Rev Nutr Diet. Basel, Karger, 2015, vol 113, pp 244–249
DOI: 10.1159/000367876

3.19 Nutrition in Cystic Fibrosis

Michael Wilschanski