Cystic Fibrosis Case Study new

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 1/8 th 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 44 th percentile Z-score: - .14 Weight for Length <3 rd 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 <3 rd 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, sp rinkle 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 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

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