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