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Radiology
Cystic Fibrosis
Built from Obstetric Imaging
What’s inside
8 sections · 71 slides
Overview
- Topics covered
The disorder
One gene, one channel, many organs
- Definition of cystic fibrosis
- Inheritance pattern of cystic fibrosis
- Autosomal recessive inheritance in a carrier couple
- The CFTR gene and its protein product
- CFTR protein in the epithelial cell membrane
- Domain structure of the CFTR protein
- Direct consequences of the CFTR defect
- From gene mutation to organ damage
- Range of clinical severity
Frequency and carrier screening
Who has it, and how carriers are found
- ~30,000
- Incidence by ancestry
- Limits of the standard 23-mutation carrier panel
- Full CFTR gene sequencing
- Expanded carrier screening in current practice
- Emerging screening technologies
Genetics and pathophysiology
How one broken channel damages many organs
- The Delta F508 mutation
- Classification of CFTR mutations
- Spectrum of CFTR protein defects
- Effects of CFTR dysfunction in the lung
- Airway surface liquid in health and in cystic fibrosis
- Effects of CFTR dysfunction in the pancreas
- CFTR in the sweat gland and the basis of the sweat test
- Organ systems affected by CFTR dysfunction
Clinical manifestations
What patients actually present with
- Timing of symptom onset
- Classical triad of cystic fibrosis
- Diagnostic criteria for cystic fibrosis
- Organ systems involved in cystic fibrosis
- Respiratory manifestations: upper airway and infection
- Respiratory manifestations: structural and late lung disease
- Meconium ileus
- Gastrointestinal manifestations: bowel
- Gastrointestinal manifestations: liver and growth
- Endocrine and reproductive manifestations
Prenatal imaging findings
Suggestive markers, never a diagnosis
- Role of ultrasound in cystic fibrosis
- Echogenic bowel: definition and frequency
- Echogenic bowel on second-trimester ultrasound
- Other sonographic findings associated with cystic fibrosis
- Sonographic appearance of meconium ileus
- Outcome of meconium ileus
- 2.5%
- Interpreting the reported risk figures
- Risk in pregnancies with a high a priori risk
- Fetal magnetic resonance imaging in echogenic bowel
- Current position on fetal MRI
- Differential diagnosis of echogenic bowel
- Recommended evaluation of fetuses with echogenic bowel
- What each arm of the work-up looks for
Diagnosis and treatment
Before birth, at birth, and lifelong
- Prenatal therapy for cystic fibrosis
- Invasive prenatal diagnostic testing
- Indications for invasive testing
- Amniocentesis for fetal diagnostic testing
- Whole exome sequencing and preimplantation genetic diagnosis
- Newborn screening for cystic fibrosis
- Immunoreactive trypsinogen and second-tier testing
- How the newborn screening pathway works
- Sweat testing for definitive diagnosis
- General treatment of cystic fibrosis
- CFTR modulator therapy
- Gene therapy and lung transplantation
Summary and references
What to carry away, and where it came from
- What the referring physician needs to know
- Key points
- Suggested readings
- References
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- References (continued)
- Obstetric Imaging: Fetal Diagnosis and Care, 2nd Edition