1. Cystic Fibrosis
Megan Smith, Dietetic Intern
University of Maryland College Park
Children’s National Medical Center Case Study
January 31, 2014
Google Images Labeled for Re-use: Commons.wikimedia.org File: Lungs
(animated).gif

2. Outline
 Cystic Fibrosis
 Nutrition and Cystic Fibrosis
 Case Study
 Initial Assessment
 Follow-up

3. 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

4. Cystic Fibrosis
 Diagnosis:
 Newborn Screening (NBS)~60% detected
 Sweat Chloride Test-2 tests to confirm
 Genetic Testing
 Who:
 1 in 3500 births
 Most common in Caucasian people (95%) but can occur
in all racial and ethnic groups
 Estimated 30,000 people in the USA, 1000 new cases
each year

5. Cystic Fibrosis
Mutations
 Research has identified more than 1,800 mutations
 Mutations are grouped into several different classes
based on how they mutate the CFTR gene
 Nonsense or Stop
 Gating
 Protein processing
 Other

6. 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

7. 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

8. Adult CF Nutrition
 High 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 beverages
 Only foods that do not need enzyme supplementation: simple
sugars (soda, fruit snacks, hard candy, popsicles)
 Salt supplementation

9. Infant CF Nutrition
 Increase Caloric intake of Breast milk or standard infant formulas
 Concentrate formula (27-28 kcal/oz)
 Duocal/Scandicalabove 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

10. Case Study

11. Background
 LN 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)

12. 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
/deletionspositive; finally diagnosed.
 Fecal Elastase done 2 x (<15)Pancreatic Insufficient
 Over course of stay, patient with FTT and multiple complications
common to CF patients

13. Culture
Ethiopian 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)

14. Assessment
 Nutrition 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

15. Diet History
 Patient 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

16. 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

17. Head Circumference
&Weight for Length
Current Head
Circumference
• 44 cm
• 44th percentile
• Z-score: -.14
Weight for Length
• <3rd percentile
• Z-score: -3.42

18. Pertinent Lab Values
Lab 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 -- --

19. Medications at assessment
Medicine Function Possible Nutrition-
Related Side Effect
Albuterol Bronchdilator; relaxes muscles in
airways, increases air flow to lungs
Difficulty 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

20. PES Statement
 NC-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.

21. 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

22. 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

23. Follow-Up Assessment
 Diet: 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

24. Growth Trends
5.5
5.6
5.7
5.8
5.9
6
6.1
Weightinkg
• 27 g/day
growth since
admission

25. Intake
 9/23-960 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
100
200
300
400
500
600
700
800
900
1000
1100
23-Sep 24-Sep 25-Sep 26-Sep 27-Sep
Formula Intake Since Assessment

26. Follow-Up Recs
 Advance 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

27. 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