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PedsCases CF Note (SP Edit)

CF is an autosomal recessive genetic condition caused by mutations in the CFTR gene, most commonly the F508 deletion. This results in dysfunctional CFTR protein in epithelial cells, dysregulating chloride and sodium transport and decreasing airway surface liquid. Clinical manifestations include progressive respiratory disease with chronic infections, pancreatic insufficiency leading to malabsorption, and other issues like failure to thrive. Diagnosis is confirmed via newborn screening, sweat chloride tests, and genetic testing. Management focuses on airway clearance, nutrition, pancreatic enzyme supplementation, and treatments to address infections and complications.

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Mehtab Alam
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45 views1 page

PedsCases CF Note (SP Edit)

CF is an autosomal recessive genetic condition caused by mutations in the CFTR gene, most commonly the F508 deletion. This results in dysfunctional CFTR protein in epithelial cells, dysregulating chloride and sodium transport and decreasing airway surface liquid. Clinical manifestations include progressive respiratory disease with chronic infections, pancreatic insufficiency leading to malabsorption, and other issues like failure to thrive. Diagnosis is confirmed via newborn screening, sweat chloride tests, and genetic testing. Management focuses on airway clearance, nutrition, pancreatic enzyme supplementation, and treatments to address infections and complications.

Uploaded by

Mehtab Alam
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© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
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CYSTIC FIBROSIS

CF is an autosomal recessive genetic condition characterized by mutations of the cystic fibrosis


transmembrane conductance regulator (CFTR) gene found on chromosome 7. The most common
mutation is delta F508 deletion.

PATHOPHYSIOLOGY EPIDEMIOLOGY
Dysfunction of the CFTR protein found in epithelial cells of Most prevalent in
respiratory, gastrointestinal, reproductive system & sweat glands ⇢ Caucasians ⇢ ~ 1 in
dysregulation of chloride, bicarbonate, & sodium channel transport every 3000 – 3500 live
⇢ ↓ H2O concentration of secretions ⇢ impaired clearance births

CLINICAL MANIFESTATIONS

Respiratory Gastrointestinal Other

• Progressive disease with • Intestinal obstruction • Failure to thrive


intermittent acute • Steatorrhea • Delayed puberty & infertility
exacerbations • Pancreatic insufficiency, • Dehydration & sodium
• Mucous plugging ⇢ chronic initially exocrine ⇢ depletion
airway inflammation & eventually also endocrine • Stress incontinence
infections ⇢ bronchiectasis (CF related diabetes) • Low bone mineral density
• Common pathogens: S. • Fat soluble vitamin • Clubbing
aureus, H. influenza, P. deficiencies (ADEK)
aeruginosa, B. cepacia • CF related liver disease

INVESTIGATIONS

Newborn screening test Sweat chloride test CF genetic testing

MANAGEMENT
• Airway clearance • Nutrition to maintain BMI • CFTR modulator therapies
techniques: chest >50th percentile • Routine immunizations
physiotherapy, nebulized • Pancreatic enzyme • Exposure avoidance
hypertonic saline, dornase supplementation (no contact with other
alfa • Fat soluble vitamin individuals with CF; no hot
• Regular pulmonary function supplementation (ADEK) tubs or humidifiers)
tests • Increased salt intake • Mental health screening
• Lung transplantation • Oral glucose tolerance tests (patient & family)

Published February 2021


Vanessa Warren (Medical Student 2021, Northern Ontario School of Medicine) & Dr. Gautam Kumar (General
Pediatrician, Northern Ontario School of Medicine) for www.pedscases.com

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