Posted: June 11th, 2022

Cystic Fibrosis Case Study

Clinical Manifestations, Diagnosis, and Management of Cystic Fibrosis Case Study

Abstract:
Cystic fibrosis (CF) is an autosomal recessive genetic disorder that primarily affects the respiratory and digestive systems. This case study examines a 6-year-old Caucasian male diagnosed with CF at 8 months of age, presenting with a history of recurrent respiratory infections, failure to thrive, and malabsorption. The patient’s clinical manifestations, diagnostic findings, and management strategies are discussed in the context of current CF research and guidelines. Early diagnosis, multidisciplinary care, and aggressive treatment are crucial for improving outcomes and quality of life in CF patients.

Introduction:
Cystic fibrosis is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, leading to abnormal chloride transport and the accumulation of thick, sticky mucus in various organs (Elborn, 2020). CF affects approximately 1 in 2,500 to 3,500 newborns in the United States and Europe, with a median predicted survival age of 47.4 years in the US (Cystic Fibrosis Foundation, 2021). This case study explores the clinical presentation, diagnostic workup, and management of a pediatric CF patient.

Case Presentation:
The patient, a 6-year-old Caucasian male, was diagnosed with CF at 8 months of age following a history of meconium ileus, failure to thrive, and recurrent respiratory infections. He presented with decreased exercise tolerance, increased cough, and dark sputum production. Physical examination revealed a thin, pale, and frail appearance, with crackles and decreased breath sounds in the lungs. Pulmonary function tests showed an FEV1 of 63% predicted, and chest X-rays demonstrated bilateral lower lobe consolidation consistent with pneumonia.

Diagnosis and Management:
The diagnosis of CF was confirmed by a positive sweat chloride test (99 meq/L) and the presence of characteristic clinical features. Sputum cultures grew Pseudomonas aeruginosa, Stenotrophomonas maltophilia, and Staphylococcus aureus, necessitating aggressive antibiotic therapy. The patient’s management plan included inhaled antibiotics, bronchodilators, mucolytics, and corticosteroids to control respiratory symptoms and infections. Pancreatic enzyme replacement therapy, fat-soluble vitamin supplementation, and a high-calorie, high-protein diet were prescribed to address malabsorption and nutritional deficiencies (Turck et al., 2021).

Discussion:
This case highlights the multisystemic nature of CF and the importance of early diagnosis and comprehensive care. Newborn screening for CF has been widely implemented, allowing for earlier intervention and improved outcomes (Castellani et al., 2018). The patient’s clinical manifestations, including meconium ileus, failure to thrive, and recurrent respiratory infections, are consistent with classic CF presentations. Pulmonary disease, the leading cause of morbidity and mortality in CF, is characterized by chronic inflammation, infection, and progressive lung damage (Elborn, 2020). Aggressive management of respiratory symptoms and infections is crucial for preserving lung function and improving survival.

Malabsorption and nutritional deficiencies are common in CF due to pancreatic insufficiency and increased metabolic demands. Pancreatic enzyme replacement therapy and nutritional supplementation are essential for maintaining adequate growth and nutrition (Turck et al., 2021). Regular monitoring of lung function, nutritional status, and complications is necessary to optimize treatment and prevent disease progression.

Conclusion:
This case study demonstrates the complexity of managing cystic fibrosis, a multisystemic genetic disorder requiring a multidisciplinary approach. Early diagnosis through newborn screening, prompt initiation of treatment, and close monitoring are essential for improving outcomes and quality of life in CF patients. Advancements in CF therapies, including CFTR modulators and personalized medicine, offer hope for further improving the prognosis of this challenging disease.

References:
Castellani, C., Duff, A. J., Bell, S. C., Heijerman, H. G., Munck, A., Ratjen, F., … & Drevinek, P. (2018). ECFS best practice guidelines: the 2018 revision. Journal of Cystic Fibrosis, 17(2), 153-178.

Cystic Fibrosis Foundation. (2021). 2020 Patient Registry Annual Data Report. Bethesda, Maryland.

Elborn, J. S. (2020). Cystic fibrosis. The Lancet, 397(10290), 2195-2211.

Turck, D., Braegger, C. P., Colombo, C., Declercq, D., Morton, A., Pancheva, R., … & Wilschanski, M. (2021). ESPEN-ESPGHAN-ECFS guidelines on nutrition care for infants, children, and adults with cystic fibrosis. Clinical Nutrition, 40(4), 1605-1632.

Egan, M. E. (2019). Cystic fibrosis transmembrane conductance regulator modulators: precision medicine in cystic fibrosis. Current Opinion in Pediatrics, 31(3), 337-342.
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Cystic Fibrosis Case Study
PATIENT CASE
Patient’s Chief Complaints Provided by patient’s mother: “I noticed a let-down in T’s exercise tolerance level a week ago, and the last couple of days his cough and sputum production have gotten much worse. When he started having breathing problems, I brought him in immediately. T is normally a bubbly
and lively little boy and it is obvious when he isn’t feeling well. I think that he has another infection.”
HPI
T.B. is a 6 yo Caucasian male with a history of CF. He was diagnosed with CF at 8 months of age. He had been doing well until five days ago, when his mother noticed that he became tired very easily while playing. She also reported an increasing cough productive of very dark-colored sputum but that he had no fever. The patient also has not had much of an appetite during the past week and has lost 21
⁄2 pounds. His oxygen saturation is currently
87% and he was immediately placed on oxygen via nasal cannula.
PMH
T.B. was born (74 months ago) a 6 lb-7 oz white male to a 23 yo mother. A normal vaginal delivery followed an uncomplicated pregnancy. The infant had Apgar scores of 8 and 9 at 1 and 5 minutes, respectively. The initial physical examination was unremarkable, but at 30 hours following delivery, the infant developed abdominal distension and began vomiting bile. No bowel movements had occurred since birth. A second physical exam disclosed an afebrile, well-developed infant with a tense abdomen from which only occasional faint bowel sounds were heard. The anus was patent, lungs were clear to auscultation, and the cardiac
exam was unremarkable. There were no neurologic abnormalities. Radiography of the
abdomen revealed distended loops of bowel without air. Both the CBC and serum chemistry panel were normal. Exploratory laparotomy disclosed meconium ileus and atresia of the distal ileum. The narrowed segment of ileum was successfully resected and the infant recovered without complications. An attempt to collect a sweat sample for chloride analysis was unsuccessful. After discharge, the infant was lost to follow-up.
For the Disease Summary for this case study,
see the CD-ROM.

At 8 months of age, the child presented with failure to thrive characterized by poor weight gain. His appetite had been good, but for several months he had been having up to 6 pale and foul-smelling bowel movements daily. During that time, he had also experienced several episodes of bronchitis. Physical examination revealed a small, frail-looking, pale child who appeared malnourished with little subcutaneous fat and a protuberant abdomen. There was a scattering of crackles in both lungs consistent with pulmonary edema or pneumonia. The cardiac exam was normal. Chest x-rays showed markings in allnlung fields. The patient’s WBC was 8.3
l03/mm3, serum albumin was 1.9 g/dL, sweat chloride was 99 meq/L, and a stool smear was positive for fat. The child was hospitalized
and 24 hours later became febrile with tachypnea and increasing signs of respiratory distress. Auscultation revealed poor breath sounds in the right lung. Radiographs of the chest revealed consolidation of the right lung consistent with pneumonia. The WBC had increased to 19.3
l03/mm3 with an increase in band forms (i.e., immature neutrophils)
in the peripheral blood to 16%. Sputum cultures were positive for both Pseudomonas aeruginosa and Staphylococcus aureus. With intensive support and aggressive intravenous antibiotic therapy, the infection resolved and the patient recovered fully. A diagnosis of CF was established and the patient was referred to the regional CF center for follow-up.
During the next six years, the patient was hospitalized three times for respiratory infections and one episode of hemoptysis. The infections required hospitalization for up to two weeks at a time and IV antibiotics. He was also diagnosed with bronchiectasis and pancreatic insufficiency. His mother has been administering postural drainage to her son three
times daily for approximately 30 minutes each. Some of the positions are obviously uncomfortable, but T never complains. He is being maintained on a high-calorie, high-protein, and unrestricted fat diet that is supplemented with fat-soluble vitamins and iron.
FH
• Father has HTN; mother is well
• Mother knew that she was a carrier for CF when they married, but father did not
• The patient is the only child born to a 24 yo father and 23 yo mother
• A maternal uncle died at age 16 from pneumonia secondary to CF
• The remainder of the FH is unremarkable
SH
• Patient lives at home with his father and mother and attends first grade; he is doing well in school
• Father is a full-time evening custodian at a local community college
• Mother is currently a “stay-at-home mom,” but is also a registered nurse
• Family has city water and no pets
• Father smokes but only outside of the home
ROS
• Patient complains of chest pain when coughing
• Reduced ability to perform usual daily activities due to SOB
• (–) vomiting, abdominal discomfort/pain, diarrhea, constipation, change in urinary frequency, increase in thirst
Meds
• Aerosolized tobramycin 300 mg BID
• Albuterol 2.5 mg via nebulizer TID
• Dornase alfa 2.5 mg via nebulizer QD

CASE STUDY 15 ■ CYSTIC FIBROSIS 67
• Fluticasone propionate 100 µg, 1 puff BID
• Prednisone 4 mg po Q 6h
• Pancrelipase: 8000 USP units lipase 30,000 USP units amylase 30,000 USP units protease with each meal; 4000 USP units lipase 12,000 USP units amylase 12,000 USP units protease with each snack
• Ferrous sulfate 15 mg po Q 8h
• ADEK Multivitamin Pediatric Chewable Tablets 1 tab po BID
All
NKDA
PE and Lab Tests
Gen
The patient is a pleasant, thin, 6 yo white male who has difficulty breathing and gasps for air when his oxygen cannula is removed. He seems small for his age. His color is pale and he appears frail and tired. The patient is sitting up on the examiner’s table in the emergency
room.
Vital Signs
See Patient Case Table 15.1
Patient Case Table 15.1 Vital Signs
BP 105/68 (sitting) T 98.4°F SaO2 95% with 1.5 L O2
88% on room air
P 122 (regular) WT 29 lb
(normal for age: 36–60 lbs)
RR 33 (labored) HT 34
(normal for age: 36–41)
Skin
• Color pale
• Cool to the touch, dry, and intact
• (–) rashes, bruises, and other unusual lesions
• Good turgor
HEENT
• Pupils equal at 3 mm, round, and reactive to light and accommodation
• Extra-ocular muscles intact
• Funduscopic exam unremarkable
• White sclera
• Conjunctiva pale and non-edematous
• TMs clear throughout, translucent, and without drainage
• Nares with dried mucus in both nostrils
Bruyere
68 PART 2 ■ RESPIRATORY DISORDERS
• No oral lesions or erythema
• Secretions noted in posterior pharynx
Neck/LN
• Neck supple without masses
• (–) lymphadenopathy, thyromegaly, JVD, and carotid bruits
Lungs
• Crackles heard bilaterally in upper lobes
• Decreased breath sounds in lower lobes
• Wheezing noted without auscultation
• RLL and LLL dull to percussion posteriorly
Heart
• Tachycardic with regular rhythm
• (–) murmurs and rubs
• S1 and S2 normal
• (–) S3 and S4
Abd
• Abdomen soft, NT/ND
• () BS
• (–) HSM, masses, and bruits
Genit/Rect
• Stool heme negative
• Normal penis and testes
MS/Ext
• Mild clubbing noted
• (–) cyanosis, edema, and femoral bruits
• Capillary refill WNL at  2 sec
• Age-appropriate strength and ROM
• Radial and pedal pulses WNL at 2 throughout
Neuro
• Awake, alert, and oriented
• CNs intact
• DTRs 2
• No gross motor or sensory deficits present
• Somewhat uncooperative with full neurologic exam
Laboratory Blood Test Results
See Patient Case Table 15.2
Bru
CASE STUDY 15 ■ CYSTIC FIBROSIS 69
Sputum Culture Results
() Pseudomonas aeruginosa, Stenotrophomonas maltophilia, and Staphylococcus aureus
Pulmonary Function
FEV1 63% of predicted
Chest X-Rays
Consolidation of lower lobes of both lungs consistent with double pneumonia
Peripheral Blood Smear
Microcytic hypochromic red blood cells
Patient Case Question 1. Which of the following best explains why the patient in this
case study has cystic fibrosis?
a. development of meconium ileus soon after birth
b. failure to thrive
c. both parents are carriers of a mutation for cystic fibrosis
d. frequent infections early in life
e. malabsorption of fats and proteins
Patient Case Question 2. Why would you expect the patient in this case study to be
malnourished?
a. malabsorption of fats and proteins
b. deficiency of vitamins and minerals
c. significant use of calories to maintain breathing
d. both a and b
e. a, b, and c
Patient Case Question 3. Why does the patient in this case study receive postural
drainage?
a. to loosen secretions from the lungs and remove them from the airways
b. to facilitate the exchange of gases
c. to strength chest muscles
Patient Case Table 15.2 Laboratory Blood Test Results
Na 137 meq/L MCHC 29 g/dL AST 16 IU/L
K 3.8 meq/L Plt 187,000/mm3 ALT 20 IU/L
Cl 102 meq/L WBC 18,900/mm3 T Bilirubin 1.0 mg/dL
HCO3 24 meq/L • PMNs 74% T Protein 7.3 g/dL
BUN 19 mg/dL • Bands 6% Alb 3.8 g/dL
Cr 0.7 mg/dL • Lymphs 17% Vitamin A 40 mg/dL
Glu, fasting 109 mg/dL • Monos 3% Vitamin D, 25OH 43 ng/mL
Hb 11.8 g/dL Ca 8.3 mg/dL Vitamin E 0.2 mg/dL
Hct 35.1% PO4 2.9 mg/dL PT 11.4 sec
MCV 77 fL Mg 2.1 mg/dL PTT 34.8 sec

d. both a and b
e. a, b, and c
Patient Case Question 4. Which of the following clinical manifestations might the
patient demonstrate with the development of cor pulmonale?
a. jugular venous distension
b. edema of the ankles and feet
c. hepatomegaly
d. both a and b
e. a, b, and c
Patient Case Question 5. Based on laboratory test results, which types of nutritional
supplementation should be enhanced?
Patient Case Question 6. List three specific laboratory test results that are consistent
with development of a bacterial infection.
Patient Case Question 7. Which two specific laboratory test results above suggest that the patient is not vitamin K deficient?
Patient Case Question 8. Describe the pathophysiology that is causing pallor in this patient.
Patient Case Question 9. Which clinical evidence indicates that cirrhosis has not developed in this patient as a result of cystic fibrosis?
Patient Case Question 10. Which clinical evidence indicates that hypoproteinemia
secondary to cystic fibrosis is not an issue in this patient?
Patient Case Question 11. Which clinical evidence indicates that diabetes mellitus has
not developed in this patient as a result of cystic fibrosis?
Patient Case Question 12. Is this patient hyponatremic or hypochloremic?

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