Cystic FibrosisCystic Fibrosis

Kelsey Leach, RDKelsey Leach, RD

What is Cystic Fibrosis (CF)?What is Cystic Fibrosis (CF)?

►A recessive genetic diseaseA recessive genetic disease►Effects the exocrine glandsEffects the exocrine glands►Abnormality in the CF transmembrane Abnormality in the CF transmembrane

conductase (CFTR)conductase (CFTR) Decrease in ClDecrease in Cl¯̄ secretion secretion –>–>which causes which causes

the production of mucus the production of mucus –>–> which effects which effects some organssome organs

Incidence/Stats of CFIncidence/Stats of CF

►Mostly in CaucasiansMostly in Caucasians►1 in 2500 – 3500 live births1 in 2500 – 3500 live births►1 in 20 are carriers1 in 20 are carriers►Girls tend to die at a younger age from Girls tend to die at a younger age from

CF than boys.CF than boys.►Life expectancy now reaching to 30 Life expectancy now reaching to 30

yearsyears

Screening for CFScreening for CF

►Sweat testSweat test Measures ClMeasures Cl¯̄ levels. >60mmol/L = CF levels. >60mmol/L = CF

►For these characteristics:For these characteristics: 1. Chronic sinopulmonary disease1. Chronic sinopulmonary disease 2. Gastrointestinal and nutritional 2. Gastrointestinal and nutritional

abnormalitiesabnormalities 3. Salt loss syndromes3. Salt loss syndromes 4. Obstructive azospermia in males4. Obstructive azospermia in males Sibling has the diseaseSibling has the disease

““The child will soon The child will soon die whose brow die whose brow

tastes salty when tastes salty when kissed”kissed”

Almanac of Children’s Songs Almanac of Children’s Songs and Games from Switzerlandand Games from Switzerland

18571857

Manifestations of CFManifestations of CF

► PulmonaryPulmonary► Chronic coughChronic cough► Repeated infectionsRepeated infections► Inc work of Inc work of

breathingbreathing► Clubbing of fingersClubbing of fingers► BronchospasmBronchospasm► CyanosisCyanosis► Chronic pneumoniaChronic pneumonia► Nasal polypsNasal polyps

► GastrointestinalGastrointestinal► FTTFTT► SteatorrheaSteatorrhea► HypoalbuminemiaHypoalbuminemia► Rectal prolapseRectal prolapse► Frequent, foul stoolsFrequent, foul stools► Abdominal crampsAbdominal cramps► Voracious appetiteVoracious appetite► AnemiaAnemia► Vit deficiencyVit deficiency

LungsLungs

► Mucus dec. breathing and causes obstruction. Mucus dec. breathing and causes obstruction. Also a great breeding ground for bacteriaAlso a great breeding ground for bacteria

► Lots of antibiotics to dec. bacterial growthLots of antibiotics to dec. bacterial growth Chronic use of antibiotics dec. gut flora, supplement Chronic use of antibiotics dec. gut flora, supplement

Vit KVit K P. aeruginosaP. aeruginosa assoc. w/ anorexia, inc met rate, and assoc. w/ anorexia, inc met rate, and

E reqE req► Increase work for breathing, increase E needsIncrease work for breathing, increase E needs► Chronic coughChronic cough► Chest physiotherapyChest physiotherapy

PancreasPancreas

►Blocked ducts Blocked ducts –> dec in enzyme release–> dec in enzyme release►Need enzyme therapy (for most CF Need enzyme therapy (for most CF

people)people) Take when eat Take when eat anythinganything

►Because of malabsorption problems Because of malabsorption problems need supplements of Vit/Min, especially need supplements of Vit/Min, especially fat soluble vit.fat soluble vit.

►May lead to diabetesMay lead to diabetes

Enzyme therapyEnzyme therapy

►Take w/in 1 hr Take w/in 1 hr beforebefore meal, not after meal, not after►For those who can’t swallow pill, can For those who can’t swallow pill, can

mix w/ low acid food (i.e., applesauce)mix w/ low acid food (i.e., applesauce)►<4 yr = 2000-4000 units/ 120mL BM <4 yr = 2000-4000 units/ 120mL BM

or formula OR 1000 u/kg/mealor formula OR 1000 u/kg/meal►>4 yr = 500 u/kg/meal>4 yr = 500 u/kg/meal►No >2500 u/kg/meal because may No >2500 u/kg/meal because may

cause fibrosing colonopathycause fibrosing colonopathy

Other organs/ProblemsOther organs/Problems

►Easily overheat and dehydrateEasily overheat and dehydrate►Digital ClubbingDigital Clubbing►As disease progresses:As disease progresses:

Liver failure- from clogged ductsLiver failure- from clogged ducts Heart failure- effects of chronic pulmonary Heart failure- effects of chronic pulmonary

hypertensionhypertension

►Sterility in all males and some femalesSterility in all males and some females

CF that affects nutritional CF that affects nutritional statusstatus

►Low albuminLow albumin►Loss of Na and ClLoss of Na and Cl►Pancreatic enzyme therapyPancreatic enzyme therapy►Vit/ Min supplementationVit/ Min supplementation►Energy deficitEnergy deficit

Due to Pulm functionDue to Pulm function

Energy needsEnergy needs

►Children with (CF) are at nutritional risk Children with (CF) are at nutritional risk due to impaired absorption and increased due to impaired absorption and increased energy needs. energy needs.

►120%-150% of the RDA for energy120%-150% of the RDA for energy►They have inc. REEThey have inc. REE►Diet usually high in fat (40%)Diet usually high in fat (40%)►““Typical” American diet is high in protein, Typical” American diet is high in protein,

therefore CF person usually gets enough therefore CF person usually gets enough propro

Goal of Nutrition therapyGoal of Nutrition therapy

►Overcome the energy deficit and Overcome the energy deficit and promote normal growth and promote normal growth and development for CF patientsdevelopment for CF patients

InfantsInfants

►Breastfeeding or formulaBreastfeeding or formula BM lower in protein, but many benefits. BM lower in protein, but many benefits. One study showed BF CF babies weighed One study showed BF CF babies weighed

moremore Special formulas for gut resection/fat Special formulas for gut resection/fat

malabsorption = Alimentum and Pregestimilmalabsorption = Alimentum and Pregestimil►May be malnourished May be malnourished

Have high energy needs, highest growth rateHave high energy needs, highest growth rate►Need enzyme therapy, fluoride Need enzyme therapy, fluoride

supplementation, and vit. supplsupplementation, and vit. suppl

Infants ContInfants Cont

►May need salt suppl, esp. BF infantsMay need salt suppl, esp. BF infants►Start solids at appropriate ageStart solids at appropriate age►Problems with GER can dec intakeProblems with GER can dec intake►Digestive problems with those who Digestive problems with those who

have bowel resectionhave bowel resection►Pancreatic InsufficiencyPancreatic Insufficiency

50% at birth50% at birth 80-90% by 1 year80-90% by 1 year

ToddlersToddlers

►Variable intakeVariable intake Warn parents of lower intakeWarn parents of lower intake

►Have scheduled meals and snacksHave scheduled meals and snacks►Continue vit/min supplContinue vit/min suppl►Avoid excessive snacking (grazing)Avoid excessive snacking (grazing)►Monitor growth velocityMonitor growth velocity

School AgeSchool Age

►More responsibility of diet/ and More responsibility of diet/ and treatmenttreatment May still need some help, esp. younger May still need some help, esp. younger

children, but they should become more children, but they should become more involved in taking enzymes/ vitaminsinvolved in taking enzymes/ vitamins

► Involve school in need to take Involve school in need to take enzymes with mealsenzymes with meals

►Some peer pressure + self-Some peer pressure + self-management = dec compliancemanagement = dec compliance

AdolescentsAdolescents

►More independenceMore independence►Need more kcal for increased Need more kcal for increased

growth/activitygrowth/activity►Those with poor lung function have harder Those with poor lung function have harder

time with maintaining energy needs.time with maintaining energy needs.►Females more likely to develop under Females more likely to develop under

nutrition and growth failure b/c lean body nutrition and growth failure b/c lean body mass.mass.

►Peer pressure/influence may be a Peer pressure/influence may be a problem.problem.

AdultsAdults

►Maintain energy needsMaintain energy needs►Weight loss associated with Weight loss associated with

decreasing lung functiondecreasing lung function►Still need enzyme therapy and vit/min Still need enzyme therapy and vit/min

supplsuppl►Usually solely responsible for disease Usually solely responsible for disease

management.management.

Pregnancy/BF with CFPregnancy/BF with CF

►Can be accomplishedCan be accomplished►Need adequate weight gain.Need adequate weight gain.►Prenatal vitamins on top of usual Prenatal vitamins on top of usual

vit/min supplvit/min suppl►BF possible, inc E needsBF possible, inc E needs►Monitor nutr in preg and lactationMonitor nutr in preg and lactation

Early diagnosisEarly diagnosis

► Farrell et al. Farrell et al. PediatricsPediatrics 2001; 107:1-13 2001; 107:1-13

► Children who were diagnosed early with CF, Children who were diagnosed early with CF, 13 weeks of age compared to 107 weeks at 13 weeks of age compared to 107 weeks at initial diagnosis, had better growth than initial diagnosis, had better growth than children diagnosed later (children diagnosed later (p<0.001p<0.001). ).

► Length (Length (p<0.001p<0.001), weight (), weight (p=0.p=0.027), and 027), and head circumference (head circumference (p=0.p=0.003) were 003) were significantly higher in the early diagnosed significantly higher in the early diagnosed group compared to the later diagnosed group compared to the later diagnosed group. group.

TransplantsTransplants► Luca A et al. Luca A et al. Ann Thorac SurgAnn Thorac Surg 2002; 74:13-8 2002; 74:13-8

► 64 people with CF- 22 HLTx and 42 BLTx64 people with CF- 22 HLTx and 42 BLTx► 1.6% died in operation1.6% died in operation► Survival rate 1 yr 93.2%, 3 yr 77.7%, 5 yr Survival rate 1 yr 93.2%, 3 yr 77.7%, 5 yr

61.8%, and 10 yr 48.1%61.8%, and 10 yr 48.1%► No sig between HLTx and BLTx in survival rateNo sig between HLTx and BLTx in survival rate► Long term survivors have good pulm function Long term survivors have good pulm function

and quality of life; survival is limited by and quality of life; survival is limited by infections and bronchoilitis obliterans.infections and bronchoilitis obliterans.

GrowthGrowth► Stettler N et al. Stettler N et al. AJCNAJCN 2000; 72(2): 407-13 2000; 72(2): 407-13

► 3- yr study3- yr study► Growth of preadolescent children with CF and Growth of preadolescent children with CF and

compared it to the growth of children without CF compared it to the growth of children without CF ► The study was inclusive of all children above the The study was inclusive of all children above the

33rdrd percentile for growth. percentile for growth. ► Rate of the height of the boys with CF was slower Rate of the height of the boys with CF was slower

than the control group (than the control group (p=0.004p=0.004). There were ). There were also significant differences in fat-free mass for also significant differences in fat-free mass for the boys. Skinfold thickness was different by the boys. Skinfold thickness was different by p=0.008 p=0.008 and total body water was significantly and total body water was significantly lower by lower by p=0.02 p=0.02 in the boys with CF.in the boys with CF.

Growth ContGrowth Cont

►Routine nutr screening and assess Routine nutr screening and assess importantimportant

►Most are malnourished at dxMost are malnourished at dx►Growth an issue due to high E needs Growth an issue due to high E needs

and inc malabsorptionand inc malabsorption►May need calorie boosters or supplMay need calorie boosters or suppl

ReferencesReferences

► Article: Article: Ramsey BW, Farrell PM, Pencharz P, and the Ramsey BW, Farrell PM, Pencharz P, and the

Consensus Committee. Nutritional assessment Consensus Committee. Nutritional assessment and management in cystic fibrosis: a consensus and management in cystic fibrosis: a consensus report. report. Am J Clin NutrAm J Clin Nutr 1992; 55:108-16. 1992; 55:108-16.

► Books:Books: Alex: The Life of a ChildAlex: The Life of a Child Handbook of Pediatric NutritionHandbook of Pediatric Nutrition

Questions?Questions?

Thank youThank you