Cystic Fibrosis
last authored:
last reviewed:
Introduction
Important to explain it's a 1/4 chance for EACH pregnancy to parents; they don't understand this
38 CF centers in Canada
1 : 3,600 whites
1 : 17,000 blacks
1 : 90,000 Asians
1 : 25 are carriers
The Case of...
a simple case introducing clincial presentation and calling for a differential diagnosis to get students thinking.
Causes and Risk Factors
Pathophysiology
Mutations
CFTR on chromosome 11
chloride channel: lung, liver, pancreas
- over 1500 CF mutations thus far
- also appear to be modifier genes
- delta F 508 is the most common, with a loss of codon for phenylalanine
Signs and Symptoms
- history
- physical exam
History
- postive family history
- salty taste to skin, salt crystals on skin
- dehydration
- hyponatremia, edema
Respiratory
- cough: loose, wet-sounding
- recurrent pneumonia
- wheezing, hyperinflation
- atelectasis
- bronchiectasis
- aalergic bronchopulmonary asperilligosis (sp?)
- hemoptysis
- mucoid pseudomonas
- nasal polyps
- pansinusitis
- clubbing
Gastrointestinal
- meconium ilues, plug
- failure to thrive
- steatorrhea
- distal intestinal obstruction
- rectal prolapse
- prolonged neonatal jaundice
- recurrent intussusception (rare)
- recurrent pancreatitis, especially in patients with pancreatic sufficiency
- cirrhosis, portal hypertension
- mucoid impacted appendix
Physical Exam
Investigations
- lab investigations
- diagnostic imaging
Lab Investigations
some people are diagnosed above age 40
Sweat Test
- measuring salt in sweat
Stool Analysis
- pancreatic enzymes
Genetic Testing
- usually from both parents and child
Diagnostic Imaging
mecunium ileus occurs in many infants, requiring barium enema or surgery
most males are sterile; some females are
infection with a virus leads to stirring up of bacteria, so need antibiotics for them too
can also get diabetes
Differential Diagnosis
Treatments
Supplement with ADEK.
- routine investigation
- CXR 2x year
- pulmonary function test
- phone consulations
- home and school visits
Consequences and Course
Resources and References
Topic Development
authors:
reviewers:
 |