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
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/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
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
/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
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
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
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
Editor's Notes
CFTR (cystic fibrosis transmembrane conductance regulator) gene provides instructions for making the chloride ion transport channel
Chloride is a component of sweat
Chloride ions help control the movement of water into and out of cells, which is necessary for the production of thin, freeflowing mucus
Due to a defective chloride ion exchange system, the cells lining the pancreas, and lungs end up producing sticky, thick mucus
http://ghr.nlm.nih.gov/condition/cystic-fibrosis
Genetic Testing: Tests for common CFTR mutations
Median age of CF diagnosis is 4 yo
Sweat test: >60mmol/L
Increased energy expenditure due to lung infection and cost of breathing
Decreased intake due to anorexia, abdominal bloating and pain and reflux (or spit up)
Maldigestion and malabsorption due to pancreatic insufficiency
CF-related diabetes-lack of insulin to use calories from CHO
Symptoms of PI: frequent abdominal cramping, flatus, stools
Symptoms of ineffective PI therapy
--frequent, loose, foul-smelling large bowel movements
--oil or grease seen in diaper or toilet
--stools float
--excessive gas
--abdominal pain
--poor weight gain despite adquate caloric intake
Look up Duocal/Scandical
Course of trying to diagnose her she continued to develop multiple medical symptoms, especially experiencing symptoms indicative of CF: respiratory distress, hypovolemia, hyponatremia, hypochloremia, leukocytosis, hepatomegaly, pseudonomas pneumonia,
Continued to grow worst, required intubation s/p pressors due to acue decompensation after bronchoscopy
MOM requested second CFTR testing for 2nd confrimatory lab exam
--Several family meetings mom with RD and health care team memberscultural beliefs vs. needed treatment
9/9 2 days before discharge, mom was still refusing to give child enzymes, CPS almost involved due to the severity of FTT vs. the denial of Enzyme replacement therapy
9/9 family meeting health care team finally was able to convince family to commence treatment for FTT with pancreatic enzyme replacement therapy
Weights: 3.60 (0
Talk about their nutritional significance
Sodium: loss of sodium through: sweat, posttussive emesesis, can cause severe dehydration. IV fluids likely needed.
Potassium: posttussive emesis, sweat can cause low levels of potassium.
Chloride: sweat.
CO2: Co2 is in the form of bicarbonate in the body. High levels upon admission were indicative of the patient being in alkalosis secondary to increased work of breathing
Vitamin A: Patient Vitamin A levels were lower. Can be indicative of fat malabsorption, but not in this case. She is not showing any signs of malabsorption. Low Vitamin A levels are also common with repeated infections.
9 months old infant with CF here with possible CF exacerbation and Hyonatremia and hypochloremia. Presented with increase WOB and electrolytes disturbances found to be Pseudomonas positive on CF Cx to receive 2 week course of IV Abx and correction of her electrolytes which is related to her CF
UOP ~4cc/kg/hr may be due to increase in NaCl dose.
--Chloride, Sodium, and Potassium levels remained low. Co2 still high
--Patient receiving KCl 6 meQ bid
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