Cystic Fibrosis Kelsey Leach, RD

What is Cystic Fibrosis (CF)? ► A recessive genetic disease ► Effects the exocrine glands ► Abnormality in the CF transmembrane conductase (CFTR)  Decrease in Cl ¯ secretion –>which causes the production of mucus –> which effects some organs

Incidence/Stats of CF ► Mostly in Caucasians ► 1 in 2500 – 3500 live births ► 1 in 20 are carriers ► Girls tend to die at a younger age from CF than boys. ► Life expectancy now reaching to 30 years

Screening for CF ► Sweat test  Measures Cl ¯ levels. >60mmol/L = CF ► For these characteristics:  1. Chronic sinopulmonary disease  2. Gastrointestinal and nutritional abnormalities  3. Salt loss syndromes  4. Obstructive azospermia in males  Sibling has the disease

“The child will soon die whose brow tastes salty when kissed” Almanac of Children’s Songs and Games from Switzerland 1857

Manifestations of CF ► Pulmonary ► Chronic cough ► Repeated infections ► Inc work of breathing ► Clubbing of fingers ► Bronchospasm ► Cyanosis ► Chronic pneumonia ► Nasal polyps ► Gastrointestinal ► FTT ► Steatorrhea ► Hypoalbuminemia ► Rectal prolapse ► Frequent, foul stools ► Abdominal cramps ► Voracious appetite ► Anemia ► Vit deficiency

Lungs ► Mucus dec. breathing and causes obstruction. Also a great breeding ground for bacteria ► Lots of antibiotics to dec. bacterial growth  Chronic use of antibiotics dec. gut flora, supplement Vit K  P. aeruginosa assoc. w/ anorexia, inc met rate, and E req ► Increase work for breathing, increase E needs ► Chronic cough ► Chest physiotherapy

Pancreas ► Blocked ducts –> dec in enzyme release ► Need enzyme therapy (for most CF people)  Take when eat anything ► Because of malabsorption problems need supplements of Vit/Min, especially fat soluble vit. ► May lead to diabetes

Enzyme therapy ► Take w/in 1 hr before meal, not after ► For those who can’t swallow pill, can mix w/ low acid food (i.e., applesauce) ► <4 yr = units/ 120mL BM or formula OR 1000 u/kg/meal ► >4 yr = 500 u/kg/meal ► No >2500 u/kg/meal because may cause fibrosing colonopathy

Other organs/Problems ► Easily overheat and dehydrate ► Digital Clubbing ► As disease progresses:  Liver failure- from clogged ducts  Heart failure- effects of chronic pulmonary hypertension ► Sterility in all males and some females

CF that affects nutritional status ► Low albumin ► Loss of Na and Cl ► Pancreatic enzyme therapy ► Vit/ Min supplementation ► Energy deficit  Due to Pulm function

Energy needs ► Children with (CF) are at nutritional risk due to impaired absorption and increased energy needs. ► 120%-150% of the RDA for energy ► They have inc. REE ► Diet usually high in fat (40%) ► “Typical” American diet is high in protein, therefore CF person usually gets enough pro

Goal of Nutrition therapy ► Overcome the energy deficit and promote normal growth and development for CF patients

Infants ► Breastfeeding or formula  BM lower in protein, but many benefits.  One study showed BF CF babies weighed more  Special formulas for gut resection/fat malabsorption = Alimentum and Pregestimil ► May be malnourished  Have high energy needs, highest growth rate ► Need enzyme therapy, fluoride supplementation, and vit. suppl

Infants Cont ► May need salt suppl, esp. BF infants ► Start solids at appropriate age ► Problems with GER can dec intake ► Digestive problems with those who have bowel resection ► Pancreatic Insufficiency  50% at birth  80-90% by 1 year

Toddlers ► Variable intake  Warn parents of lower intake ► Have scheduled meals and snacks ► Continue vit/min suppl ► Avoid excessive snacking (grazing) ► Monitor growth velocity

School Age ► More responsibility of diet/ and treatment  May still need some help, esp. younger children, but they should become more involved in taking enzymes/ vitamins ► Involve school in need to take enzymes with meals ► Some peer pressure + self-management = dec compliance

Adolescents ► More independence ► Need more kcal for increased growth/activity ► Those with poor lung function have harder time with maintaining energy needs. ► Females more likely to develop under nutrition and growth failure b/c lean body mass. ► Peer pressure/influence may be a problem.

Adults ► Maintain energy needs ► Weight loss associated with decreasing lung function ► Still need enzyme therapy and vit/min suppl ► Usually solely responsible for disease management.

Pregnancy/BF with CF ► Can be accomplished ► Need adequate weight gain. ► Prenatal vitamins on top of usual vit/min suppl ► BF possible, inc E needs ► Monitor nutr in preg and lactation

Early diagnosis ► Farrell et al. Pediatrics 2001; 107:1-13 ► Children who were diagnosed early with CF, 13 weeks of age compared to 107 weeks at initial diagnosis, had better growth than children diagnosed later (p<0.001). ► Length (p<0.001), weight (p=0.027), and head circumference (p=0.003) were significantly higher in the early diagnosed group compared to the later diagnosed group.

Transplants ► Luca A et al. Ann Thorac Surg 2002; 74:13-8 ► 64 people with CF- 22 HLTx and 42 BLTx ► 1.6% died in operation ► Survival rate 1 yr 93.2%, 3 yr 77.7%, 5 yr 61.8%, and 10 yr 48.1% ► No sig between HLTx and BLTx in survival rate ► Long term survivors have good pulm function and quality of life; survival is limited by infections and bronchoilitis obliterans.

Growth ► Stettler N et al. AJCN 2000; 72(2): ► 3- yr study ► Growth of preadolescent children with CF and compared it to the growth of children without CF ► The study was inclusive of all children above the 3 rd percentile for growth. ► Rate of the height of the boys with CF was slower than the control group (p=0.004). There were also significant differences in fat-free mass for the boys. Skinfold thickness was different by p=0.008 and total body water was significantly lower by p=0.02 in the boys with CF.

Growth Cont ► Routine nutr screening and assess important ► Most are malnourished at dx ► Growth an issue due to high E needs and inc malabsorption ► May need calorie boosters or suppl

References ► Article:  Ramsey BW, Farrell PM, Pencharz P, and the Consensus Committee. Nutritional assessment and management in cystic fibrosis: a consensus report. Am J Clin Nutr 1992; 55: ► Books:  Alex: The Life of a Child  Handbook of Pediatric Nutrition

Questions? Thank you