This document provides a case study on cystic fibrosis. Key points include: - Cystic fibrosis is an inherited disease that causes thick mucus buildup in organs like the lungs and pancreas. - It mostly affects Caucasians and occurs equally in males and females. The genetic mutation is autosomal recessive. - Diagnosis involves sweat tests, genetic testing, and pulmonary/pancreatic function tests. - Complications include lung infections, poor digestion, and nutrient deficiencies. - Nutrition therapy focuses on high calorie intake, pancreatic enzyme supplements, and increased vitamins/minerals. - Lily, the patient, is underweight and not meeting her nutrient needs based on lab

1. CASE STUDY 3: CYSTIC FIBROSIS
GROUP 3
MEMBERS
Robert Rutto – H12/08969/17
Lydia Mugo – H12/08976/17
Christine Kendi – HP12/01243/17
Lauryn Torongei – H12/08980/17
Nehemiah Samoei – HP12/01150/17
Alfred Mungai – H12/08
Wayne Nabala – HP12/01080/17
Dennis Kigen – H12/08958/17
AJ Bul – HP12/01178/17
I. Understanding the Disease andPathophysiology
1. Define cystic fibrosis.
Cystic fibrosis is a disease characterized by abnormally thick mucus secretions from the
epithelial surfaces of various organ systems, including the respiratory tract, the gastrointestinal
tract, the liver, the genitourinary system and the sweat glands. It is caused by mutation of the
cystic fibrosis transmembrane conductance regulator (CFTR) gene that codes for CFTR protein
(a type of protein classified as an ATP-binding cassette (ABC) transporter). Mutations of this
protein prevents the CFTR from functioning properly. In patients with CF, the CFTR’s failure to
function properly causes thick viscous secretions that eventually lead to obstruction of the glands
and ducts in the affected organs
2. Describe the most common populations affected by this disease, including age, gender,
and ethnicity.
Cystic fibrosis is the second most common life-shortening, inherited disorder occurring in
childhood in the United States. The most common population affected by cystic fibrosis are
Caucasians of Northern Europe descent. It occurs equally with female and male babies.

2. 3. This disease is an autosomal recessive disorder affecting the CFTR gene on
Chromosome 7. What does this mean? Describe what is currently understood about the
genetic characteristics of this disease.
CFTR is a type of protein classified as an ATP-binding cassette (ABC) transporter. Mutations of
this protein prevents the CFTR from functioning properly. CFTR proteins are responsible for the
transport of sugars, peptides, inorganic phosphate, chloride and metal cations across the cellular
membrane. One in 31 Americans are carriers of the defective gene that causes CF. In order to
have CF, the individual must inherit the defective gene from both parents. There is a 25%
chance that a child will get CF when both parents carry the gene, 50% chance that the child will
carry the defective gene and 25% chance that the child will be a non-carrier.
4. How is this disease diagnosed? List at least three methods that are used.
Along with a complete medical history and physical examination, the diagnoses of CF uses the
following tests:
 Sweat chloride test (a test to measure the amount of chloride in the sweat by stimulating
the skin to produce a large amount of sweat that is then absorbed by a special filter paper
and analyzed for chloride content)
 Blood test to confirm any mutations of the CFTR gene
 Sputum cultures to test for infections typical in CF
 Pancreatic function tests (tests to measure pancreatic function, including serum amylase
or lipase, a test for the amount of fat in the stool, and an X-ray of the anatomical features
of the pancreas and common bile duct)
 Pulmonary function tests.
In May 2005, the FDA approved the first DNA-based test to detect CF. This test directly
analyses human DNA to find the genetic variations indicative of the disease and is used for the
diagnoses of children with the disease and adults who are carriers of the disease.
5. For each of the following organs or organ systems, describe the most common physical
changes that occur as a result of the abnormality of the CFTR gene. Explain how these
changes may affect Lily’s nutritional status.
a. Respiratory: Coughing or increased mucus in the sinuses and lungs, fatigue, nasal congestion
and recurring pneumonia.
b. Reproductive: Men may experience infertility due to CF, later in adulthood.
c. Pancreatic: Poor digestion, poor absorption of fat and fat-soluble vitamins, and loss of bile
and bile salts. Malabsorption of calcium, phosphorous, magnesium, and vitamins D and K are of
primary concern.

3. d. Gastrointestinal: Severe constipation and pain in the stomach from this constipation,
increased bloating and gas (abdominal distension), nausea and loss of appetite, foul smelling
stools and weight loss. The constipation is a nutritional concern as well as the loss of appetite.
With a loss of appetite runs the risk of malnutrition and weight loss.
6. Lily was admitted and diagnosed with bacterial pneumonia. Why is this the most
common hospitalization for patients with CF? Explain.
When cystic fibrosis patients get obstruction secondary to buildup of thick mucus in the lungs
and sinuses, it causes an ideal breeding ground for bacteria and fungi. This causes the frequent
bouts of pneumonia.
II. Understanding the Nutrition Therapy
7. What are the most common nutritional consequences of cystic fibrosis?
Poor weight gain and poor growth (due to poor intake and lack of appetite), pancreatic
insufficiency which can lead to the malabsorption of calcium, phosphorous, magnesium, and
vitamins D and K, increased nutrient needs in patients with lower than normal BMI, poor bone
mass, low serum nutrient statues, and high infection rates.
8. Describe the major modifications for carbohydrate, protein, and fat intake that would
be needed as components of nutrition therapy for CF.
For a patient with cystic fibrosis, adequate kilocalories to support normal growth and
development are essential. Energy intake should be calculated based on the patterns of weight
gain and growth in the child. Children without respiratory infections are comparable to healthy
children and the energy RDA should be 100% to 110 %. However, if the patient has growth
deficits, malabsorption, or lung disease, the RDA should be 110% to 200% of the RDA. Fat
absorption for patients with cystic fibrosis is higher than normal patients because of the need to
compensate for any fat malabsorption. The recommended fat intake for a patient with CF is 35%
to 45% rather than the normal 25% to 35%. Medium chain triglycerides are best because they
require less bile salt for solubilization and requires less lipase activity than long-chain fatty acids.
Protein intake should be 15% to 20% of total kcal for the patient and is essential to ensure
growth and maintenance of protein stores. Carbohydrates should constitute the rest of the diet
and should be distributed throughout the day.
9. Is Lily at risk for electrolyte imbalances? Specifically, address her sodium and chloride
requirements. Is there additional information from Lily’s history that puts her at risk for
changes in her sodium and chloride levels?
People with cystic fibrosis should consume more sodium, especially if they live in places with
higher climates where sodium excretion is higher. Lily’s sodium intake should be higher due to
her participation in sports. Some pharmacies have sodium solutions with chloride in them, but

4. usually sodium intake is not a problem in adolescents or adults because of the amount of sodium
in the food supply. Lily’s lab values show normal sodium and chloride levels.
10. What is Pancrease? Lily mentioned that she did not know how much to take. What
are the recommendations?
Pancrease is a form of pancreatic enzymes that help with fat absorption and are dosed by units of
lipase/kg/meal, or units of lipase/gram fat ingested. A weight-based method has been developed
as a practical way to determine the dose of enzymes per meal. In a newly diagnosed patient,
dosages of 500 unites lipase/kg/meal should be used, and half of that before snacks. In
symptoms improve, the dose should be lowered. If symptoms do not improve, the dosage should
be increased.
III. Nutrition Assessment
A. Evaluation of Weight/Body Composition
11. Assess Lily’s weight and height. Plot her height and weight on the appropriate growth
chart. Calculate her BMI. Calculate her %UBW. Explain what each of these assessments
provides and why one or more provides the most relevant information for Lily.
Lily’s weight and height on the growth chart show that she falls in the 10th percentile for her age
group. Lily’s BMI was calculated by using the equation:
BMI:
[Weight (lb)/ height (in2)] x 703= (102/4225) x 703= 16.97 or BMI ~ 17
%UBW:
(Actual weight/Usual weight) x 100% = (102/112) x 100% = 91%
The growth charts provide information that compares Lily to other children of her age.
According to the growth charts, Lily falls within the 10th percentile. This is very low. Lily’s
BMI is below what it should be; a BMI below 18.5 is classified as underweight.
Her %UBW is 91%, which means she is below her usual body weight. All of these assessments
provide evidence that Lily is underweight and needs to increase her energy intake to prevent
malnutrition and further weight loss.
B. Calculation of Nutrient Requirements
12. Determine Lily’s energy and protein requirements. You see that she typically runs 5 to
7 miles 3 to 4 times per week as well as taking a dance class 3 times per week for 1 hour.
Make sure this is taken into account when calculating her energy requirements. Your

5. recommendations for Lily should include the appropriate macronutrient and
micronutrients based on the requirements for an adolescent with cystic fibrosis.
Harris Benedict Equation:
REE= 655 + (9.56 x wt (kg)) + (1.85 x ht (cm)) – (4.68 x age (yrs))
REE= 655 + (9.56 x 46.4) + (1.85 x 142.2) – (4.68 x 14)
REE= 655 + 443.584 + 263.07 - 65.52
REE= 1,296 ~ 1,300 kilocalories
1,300 x 2.0= 2,600 kilocalories
Rounding up to 3,000 to help her gain weight
FAT: 3,000 x .40 = 1,200 kcal from fat
1,200/9 = 133 g fat/day
Protein: 3,000 x .15 = 450 kcal from protein
450/ 4 = 113 g protein/day
CHO: 3,000 x .45= 1,350 kcal/day
1,350/4 = 338 g CHO/day
Vitamin supplementation should consist of the following:
Age Vitamin A (IU) Vitamin E (IU) Vitamin D (IU) Vitamin K (IU)
>8 10,000 200-400 400-800 0.3-0.5
C. Intake Domain
13. Analyze Lily’s nutritional intake according to the usual dietary intake. Attached your
computerized analysis for this assessment.
Dietary intake:

6. 24 hour recall:
14. Compare your analysis to her estimated nutritional needs.
I estimated that Lily should be consuming 3,000 kilocalories to help her gain some weight that
she has lost and also allow her to perform her every day activities without losing any more
weight. However, both Lily’s dietary intake and also 24-hour recall total energy requirements
were below the amount of kilocalories she needs to maintain her weight, which is 2,600
kilocalories. In her dietary intake, she was consuming too much fat and not enough
carbohydrates. Her 24-hour dietary recall was divided correctly along the macronutrients, but
was only half of the energy intake she should be consuming.
15. Identify three specific vitamins and minerals that are needed in increased amounts
during adolescence. Explain why they are of special importance for an adolescent. Will
Lily’s CF affect the metabolism of these nutrients? Do Lily’s diet history and 24- hour
recall indicate that she consumes adequate amounts of these nutrients?
Calcium, Vitamin D, and Vitamin K are three vitamins and minerals that are especially of
concern during adolescents. These nutrients help in the support of bone growth and bone health

7. and are important during the adolescent years for a child. Lily’s CF will affect the absorption of
these nutrients because of pancreatic problems that will slow down the absorption of fat soluble
vitamins. Lilly did not consume enough of any of these nutrients. In order to help prevent this,
the use of a multivitamin will be continued to be administered, as well as the addition of more
fortified dairy products as well as more leafy green vegetables.
16. From information gathered within the intake domain, list possible nutrition problems
using the diagnostic term.
- Inadequate energy intake NI-1.4
- Inadequate mineral intake (Calcium 1) NI-5.10.1
-Inadequate vitamin intake (D3, K5) NI-5.9.1
D. Clinical Domain
17. After reading the physician’s history and physical, identify the signs and symptoms
that are consistent with Lily’s admitting medical diagnoses.
The major sign that is consistent with her medical diagnosis is the fact that Lily has cystic
fibrosis, and has been hospitalized before due to respiratory infections. Lily has a cold, and her
pharynx is reddened and she has postnasal drainage. She is experiencing decreased breathing
sounds, percussion hyperresonant, rhonchi and rales present which indicate respiratory distress.
She said she is experiencing a lack of appetite as well.
18. Evaluate each of the medications that Lily takes as an outpatient. Determine the
function of each medication and identify any nutritional implication.
Medication Function of Medication Nutritional Implications
Pancrease Helps absorption of fat Allows Lily to absorb fats
and fat soluble vitamins more
easily
Prevacid Decreases amount of acid
made in the stomach
Will prevent Lily from
experiencing heartburn and
allow her to eat more acidic
things
Humabid Thins mucous membranes by
thinning mucus in the air
passages to make it easier to
cough up the mucus and clear
the airways
This will help Lily breathe
and hopefully allow her to eat
peacefully
Proventil PRN Relaxes and opens the air
passages to the lungs to make
breathing easier
This will hopefully help Lily
breathe and allow her to eat
peacefully

8. 19. Biochemical: Evaluate Lily’s laboratory values. In the following table, list any
laboratory values that are abnormal. What is the most probable cause of the abnormality?
Abnormal Lab Normal Value Reasonfor
Abnormality
Nutritional
Implications
Transferrin 219
mg/dL
250-380 mg/dL Possible acute anemia Low iron intake; need
to increase iron intake
Magnesium 1.6
mg/dL
1.8 to 3 mg/dL Low intake in dietary
magnesium
Needs to increase
magnesium intake
Hba1c 6.3 mg/dL 3.9- 5.2 mg/dL Imbalance of glucose Need to stabilize
glucose intake
WBC 13 x10^3/mm3 4.8-11.8 Infection of lung Need to get Lily
cured
HGB 11.5 g/dL 12 -15 mg/dL Possible acute anemia Low iron intake; need
to increase iron in
diet
HCT 33% 37-47% Infection of lung Must cure Lily
Ferritin 19 mm3 20-120 mm3 Possible acute anemia Low iron intake; need
to increase iron intake
20. List possible nutrition problems within the clinical domain using the diagnostic term.
- Impaired nutrient utilization NC- 2.1
- Underweight NC-3.1
E. Behavioral –Environmental Data
21. After reading the history and physical as well as the nutrition history, identify factors
that may impact the success of Lily’s current medical and nutritional care for her cystic
fibrosis.
Lily has a history of getting pneumonia. She is a very active child and because of her cystic
fibrosis, she requires even more energy requirements. If Lily does not start meeting her energy
requirements, she may become even more underweight and is putting herself at risk for
malnutrition. This is a critical time in Lily’s life and she needs to be consuming the right amount
of macro and micronutrients in order to promote the growth of her young body. In order to do
this, she must start eating the right foods that are high caloric and nutrient dense. This will help
her start to gain weight and also prevent her from becoming malnourished.
IV. Nutrition Diagnosis
Select two high-priority nutrition problems and complete PES statements for each.

9. - Lack of energy intake related to loss of appetite as evidenced by low BMI and 24-hour
diet recall.
- Inadequate vitamin and mineral intake related to poor knowledge of nutrition and lack of
appetite as evidenced by 24-hour diet recall.
V. Nutrition Intervention
23. For each of the PES statements that you have written, establish an ideal goal (based on
the signs and symptoms) and an appropriate intervention (based on the etiology).
 Help increase appetite by administering small meals throughout the day with a goal on
consuming more energy and gaining weight.
 Educate Lily on the importance of eating the correct amount of macronutrients and
micronutrients and how they can help her feel better with a goal of her consuming >110%
of the RDA for macronutrients and micronutrients
24. What might be different about your nutrition interventions if Lily were a young
teenager of different ethnicity and/or religion? Give an example and explain.
If Lily were young, I may supplement her diet with Pediasure or some other form of nutrient
dense shake that would help her consume the correct amount of macro and micro nutrients. If
Lily were of a different ethnicity or religion, I would talk to her about her knowledge of cystic
fibrosis and of nutrition because people of African descent rarely get this disease and it may be
more frightening to someone whose race rarely gets the disease than a race (Caucasian) who do
have knowledge of the disease because it is prevalent among the race.