Cystic Fibrosis
Megan Smith, Dietetic InternUniversity of Maryland College Park
Children’s National Medical Center Case StudyJanuary 31, 2014
Google Images Labeled for Re-use: Commons.wikimedia.org File: Lungs (animated).gif
OutlineCystic Fibrosis
Nutrition and Cystic Fibrosis
Case Study Initial AssessmentFollow-up
Cystic Fibrosis Cystic Fibrosis is an
autosomal recessive disorder that primarily affects the lungs and digestive system. Mutation on the CFTR
gene Defective chloride ion
exchange system alterations in chloride, water, and salt transport
Results in heavy, thick, sticky mucus production, clogging air way passages and ducts
Google images labeled for reuse: commons wikipedia. File:Cysticfibrosis01.jpg
Cystic FibrosisDiagnosis:
Newborn Screening (NBS)~60% detectedSweat Chloride Test-2 tests to confirmGenetic Testing
Who: 1 in 3500 birthsMost common in Caucasian people (95%) but can
occur in all racial and ethnic groupsEstimated 30,000 people in the USA, 1000 new
cases each year
Cystic FibrosisMutations
Research has identified more than 1,800 mutations
Mutations are grouped into several different classes based on how they mutate the CFTR geneNonsense or Stop GatingProtein processing Other
Cystic Fibrosis Signs/Symptoms
Salty-tasting skin Persistent cough, at times with phlegm Frequent lung infections Wheezing or SOB Good appetite with poor growth and slow weight gain Greasy, bulky stools; or difficulty in bowel movement
Nutritional Implications: Malnutrition/FTT, Fat soluble vitamin deficiencies, CF-related diabetes mellitus (CFRD)
Treatment Airway Clearance Antibiotics oral, intravenous, inhaled Steroids High Calorie Diet Pancreatic Enzyme Replacement Therapy if PI present
Nutrition and Cystic Fibrosis High Caloric Diet to meet increased energy needs due to
Increased energy expenditure Decreased intake Maldigestion and malabsorption CF-related Diabetes
Pancreatic Enzyme Replacement Therapy (PERT) PI (85-90% of patients) diagnosed by fecal elastase stool study <200 mcg/g of Elastase in stool indicates PI Dosing based on lipase/kg/meal
Fat-soluble multi-vitamin in a water miscible form Take with enzymes and food for max absorption AQUADEK
Salt Supplementation 1/8th tsp to meet needs from birth-6 months ¼ tsp to meet needs from 6-24 months 24 months and older, diet rich in salt
Adult CF NutritionHigh Calorie Diet
Add butter or margarine to all foods Add oils to soups, stews, vegetables Heavy cream in milk, mashed potatoes, milkshakes Oral supplements
Pancreatic Enzymes Swallow whole or pour beads into mouth; no chewing Take prior (30-60 minutes) to consumption of meals, snacks,
and milk-based beveragesOnly foods that do not need enzyme supplementation: simple
sugars (soda, fruit snacks, hard candy, popsicles)
Salt supplementation
Infant CF Nutrition Increase Caloric intake of Breast milk or standard infant formulas
Concentrate formula (27-28 kcal/oz) Duocal/Scandicalabove 28 kcal/oz Fortify breast milk or supplement concentrated formula after
breastfeeding Add butter or oil to baby foods
Pancreatic Enzymes Combine capsule beads with a pureed acidic food (applesauce);
alkaline environment (milk-based items) will induce premature activation
Feed immediately after enzymes are taken Sweep mouth for leftover beads to avoid skin breakdown
Salt Supplementation
Case Study
BackgroundLN is a 9.8 month old female
PMH: CF (1421-deletion) diagnosed at 4 months. Pseudomonas PNA and FTT s/p PICU hospitalization from 7/29/14—9/11/14 with respiratory failure requiring intubation
Admitted 1/20/15: Presented with 1 week posttussive emesis and increased work of breathing. Mom reports poor appetite x 4 days, increased sweating and decreased wet diapers.
PICU transfer on this admission for severe metabolic insufficiency (hyponatremia, hypokalemia, hypochloremia)
Past Medical Course & Diagnosis LN Presents to PICU at 3 months 26 days with severe
hyponatremia of unknown etiology with weight loss and severe dehydration. Improved Na levels with NaCl added to feeds Clinical symptoms continued to worsen, weight decreased
regardless of nutrient intake
Suspected Cystic Fibrosis but conflicting results Normal NBS 2 inconclusive sweat tests (due to lack of sweat) Full gene sequencing of CFTR with analysis for insertions
/deletionspositive; finally diagnosed. Fecal Elastase done 2 x (<15)Pancreatic Insufficient
Over course of stay, patient with FTT and multiple complications common to CF patients
CultureEthiopian Family
Illness is considered a punishment from God for a person’s sins or as the anger of spirits
Some families depend primarily on traditional healers, local herbal and animal remedies
Spiritual healing, such as prayer, is the preferred treatment for many diseases
“Healthcare provider-patient relationship factors such as communication, support, trust, and inclusion in decision making are associated with better adherence in many diseases.” (Riekert)
AssessmentNutrition Risk Level: Malnutrition as
evidenced by weight for length z-score of -1.66
Diet Prior to admission: Per father, Similac Advance 26 kcal/oz, Q3hrs (7-8 feedings per day)
Supplements: Per father, Creon 3,000 3 caps with feeds; AQUADEK 1 mL/day; 1/8 tsp salt daily
Diet Order: Similac Advance 26 kcal/oz po ad lib Q3 hrs
Diet HistoryPatient was NPO 4 days prior to admission on
1/20/15
Prior to this, per patient father, diet and supplement intake was adequate. This was confirmed by 15 g/day weight gain since 9/4/14
Upon admission, patient with severe electrolyte imbalances, started on IV fluids
Weight for Age/Weight for Height
Current Weight• 5.7 kg• <1st percentile• Z-score: -3.81• Weight-age: 2.12 months
Current Height• 66 cm• 5th percentile• Z-score: -1.66• Height-age: 5.11 months
Head Circumference &Weight for Length
Current Head Circumference• 44 cm• 44th percentile• Z-score: -.14
Weight for Length• <3rd percentile • Z-score: -3.42
Pertinent Lab ValuesLab Normal Range 1/20 1/21 1/22
Sodium 132-143 mEq/L 114, 125 (L) 131 (L), 136 140
Potassium 3.5-5.8 mEq/L 1.9, 2.3 (L) 2.4, 2.7 (L) 4.9
Chloride 97-106 mEq/L 78, 66 (L) 91, 86 (L) 98
CO2 13-23 mEq/L 42, 41 (H) 39, 38 (H) 31 (H)
Blood Glucose 54-117 mg/dL 84
BUN 1-14 mg/dL 8.6 2, 2 2
Creatinine 0.2-0.5 mg/dL 0.5, 0.4 0.2, 0.4 0.3
Calcium 8.1-11.0 mg/dL 10.2, 10.5 9.8, 9.8 9.5
Albumin 2.3-4.7 g/dL 4.3
Phosphorus 3.1-7.2 mg/dL 3.6 2.7 3.8
Magnesium 1.6-2.2 mg/dL 2.4 2.6 2.2
Total Protein 4.6-7.8 g/dL 8.6 (H) -- --
Total Bilirubin <0.8 mg/dL 0.8 -- --
WBC 6.48-13.02 K/mcL
18.27 (H) -- --
Vitamin A 30-75 mcg/dL 11 (L) -- --
Vitamin E 2.0-6.0 mg/L 4.4 -- --
Medications at assessmentMedicine Function Possible Nutrition-
Related Side EffectAlbuterol Bronchdilator; relaxes muscles in
airways, increases air flow to lungsDifficulty swallowing
Pulmicort (contains budesonide—corticosteroid)
Prevent asthma attacks by decreasing irritation and swelling in the airways
Abdominal or stomach pain, heartburn, increased thirst, loss of appetite, nausea/vomiting, weight gain or loss
Atrovent bronchodilator Sore throat, constipation, dryness of the mouth, unpleasant taste, loss of appetite, indigestion, heartburn, diarrhea, stomach pain
Ceftazidime antibiotic Abdominal pain, bloating, diarrhea (may be watery, severe, bloody), increased thirst, nausea/vomiting, unusual weight loss, loss of appetite
Azithromycin Antibiotic Diarrhea, loose stools, abdominal pain, sore throat, dry throat, loss of appetite, nausea or vomiting
Lasix Diuretic Loss of appetite, severe pain in upper stomach, nausea and vomiting, weight loss or rapid weight gain
PES StatementNC-3.1 Underweight related to poor growth and
development due to CF and delayed PERT therapy as evidenced by weight for length <3rd percentile and z-score of -3.42.
Estimated Nutrient Needs
Energy needs (Kcals/kg): 120 kcal/kg/day (range: 120-140 kcal/kg/day)Based on the DRI/age x 1.5-1.8
Protein needs (Grams Protein/kg): 1.8 g/kg/day (range: 1.8-2.4 g pro/kg)Protein: Based on DRI/age x 1.8-2
Maintenance fluid needs (mL/day): 100 mL/kg/day; 570 mL/day Fluids: Based on Holiday Segar Method (100 mL/kg) for
infants 1-10 kg; (100x5.7)=570 mL/day
Recommendations Continue Similac Advance 26 kcal/oz po ad lib Q3 hrs;
Minimum goal of 24 oz (720 mL/oz) (provides 126 mL/day, 109 kcal/kg, 2.2 gm PRO/kg) Max goal of 26-28 oz/day (provides 120-130 kcal/kg)
Continue Creon 3,000, 3 caps with each feed (provides 12, 631 units of lipase/kg/day) To administer capsule, sprinkle beads on applesauce and feed
via spoon. Please sweep inside of mouth for any left over beads as they cause skin ulceration
AQUADEK 1 mL/day
1/8 tsp salt daily
Monitor daily weights: Goal 25-35 g/day for catch-up growth
Monitor stools
Follow-Up AssessmentDiet: Last 24 hours patient took in 930 mL
Similac Advance 26 kcal/oz (provides 157 mL/kg, 136 kcal/kg, and 2.7 grams protein/kg)
Supplements: Creon 3,000, 3 caps with feeds (12, 162 units of lipase/kg/day), AQUADEK 1 mL/day, NaCl 5 mEq TID.
Stooling 2-3 x daily
Demonstrates good po intake and weight gain
Growth Trends
1/20
/15
1/21
/15
1/22
/15
1/23
/15
1/24
/15
1/25
/15
1/26
/15
1/27
/15
5.5
5.6
5.7
5.8
5.9
6
6.1
Weig
ht
in k
g
• 27 g/day growth since admission
Intake9/23-960 mL
9/24-960 mL
9/25-835 mL
9/26-900 mL
9/27-930 mL
On average she is exceeding max goal intake of 840 mL
23-Sep 24-Sep 25-Sep 26-Sep 27-Sep100200300400500600700800900
10001100
Formula Intake Since As-sessment
Follow-Up RecsAdvance to Similac 28 kcal/oz po ad lib. Minimum goal of
26 oz (720 mL/day) will provide: 122 mL/kg, 123 kcal/kg, 2.5 g PRO/kg. To meet 100% of goal calories patient to have goal of 28-30 oz (provides ~130-140 kcal/kg)
Continue Creon 3,000, 3 caps with each feed (This provides 12,162 units of lipase/kg/day)
AQUADEK 1 mL/day
Continue NaCl 5 mEq TID Pt to continue 1/8 tsp salt daily for discharge
Monitor daily weights: Goal 25-35 g/day for catch up growth
Monitor stools
References US National Library of Medicine. Genetics Home Reference-CFTR. 2008. Available at
http://ghr.nlm.nih.gov/gene/CFTR Accessed January 24, 2015.
Cystic Fibrosis Foundation. Available at http://www.cff.org.. Accessed January 24, 2015.
Children’s National. Nutrition in Cystic Fibrosis Slides. January 25, 2015.
Children’s National Pediatric Nutrition Assessment Slides. January 25, 2015.
Gifford, Heather. Nutrition Management of the Cystic Fibrosis Patient. Support Line. 2009, 31; 8-11.
Chou, Joseph. Peditools, Clinical Tools for Pediatric providers. Available at http://peditools.org. Accessed January 22, 2015
EthnoMed. Ethiopian Cultural Profile. Available at https://ethnomed.org/culture/ethiopian/copy_of_ethiopian-cultural-profile#section-9 Accessed January 26, 2015.
Reikert, K, Eakin, M. Opportunities for Cystic Fibrosis Care Teams to support treatment adherence. Journal of Cystic Fibrosis. 2015, 14; 142-148.
Cystic Fibrosis. Google Image Search Labeled for Re-use. http://commons.wikimedia.org/wiki/File:Cysticfibrosis01.jpg
Lungs. Google Image Search Labeled for Re-use. http://commons.wikimedia.org/wiki/File:Lungs_(animated).gif