Transcript Cystic fibrosis

Cystic fibrosis
Clinical presentation
• A grazier from a remote sheep station presents his 13
year old daughter because she is small for her age, he
also thinks her spine is twisted
• On direct questioning she complains of recurrent cough
with sputum production, it sometimes causes her to
vomit. She can’t remember when it all started, but thinks
it was some years back, she says she gets short of
breath
• On examination she is pale, thin, with thoracolumbar
scoliosis. No cyanosis, but fingers suggest early
clubbing. Wheezes and crackles can be heard in the
lungs
• Examine this chest X-ray and suggest possible
diagnoses
Questions
• The radiograph shows the following
pulmonary abnormalities;
– Hyperinflation
– Consolidation
– Patchy changes
– Hilar lymphadenopathy
– Bronchiectasis **
Questions
• Differential in this case includes
– Bronchopulmonary aspergillosis **
– Coeliac disease
– Idiopathic bronchiectasis **
– Cystic fibrosis **
– Neurofibromatosis
• In order to investigate this condition and to
show the extent of disease, further
radiological procedures should include;
– Coronary arteriography
– High resolution C.T. scan of thorax **
– Bronchography with Dionosil
– Ultrasound of trachea
– Radio-isotope perfusion scan of lungs
End of Quiz
Radiographic findings
• The lungs are (surprisingly) not hyperinflated, there are
only 6 – 7 anterior ribs above the diaphragm, but they
are hyper translucent
• The bronchial walls are thickened and inflamed in a
localised area in the right upper zone showing tramlining (see link to tram-lining)
• The bronchi are dilated indicating bronchiectasis (See
link to Features of bronchiectasis on CXR)
• No associated consolidation, hilar lymphadenopathy, or
calcification is seen
• She has associated scoliosis (See link to scoliosis in CF)
Final diagnosis
• In a 14 year old, the clinical and radiographic
features strongly suggest cystic fibrosis and this
was confirmed with a sweat test
• Other causes of bronchiectasis should, however
be excluded:
–
–
–
–
Aspergillosis
Asthma
Primary ciliary dysmotility syndrome
Sinusitis
Radiological findings in cystic
fibrosis
• Earliest changes are hyperinflation and peribronchial
thickening (see link to Tram-lines)
• Air-trapping may be apparent in the upper lobes with
increased radiolucency
• As pulmonary disease progresses pulmonary nodules,
linear infiltrates with or without segmental or lobar
collapse, hyperinflation with flattening diaphragmatic
dome, and changes of a barrel chest – these are also
the changes of chronic obstructive airways disease
• cor pulmonale with pulmonary artery dilatation and right
ventricular hypertrophy may be present but this can be
masked by the associated marked hyperinflation
• There are several radiologic scoring systems but they
are quite operator dependent
Discussion
• Cystic fibrosis (CF) is the commonest lethal inherited
disease in Western countries
• It is an autosomal recessive disorder, most carriers of
the gene are asymptomatic
• CF causes exocrine gland dys-function causing
thickened secretions; in the lungs resulting in chronic
respiratory infections, and in the pancreas causing
pancreatic enzyme insufficiency
• Pulmonary involvement occurs in 90% of patients who
survive the neonatal period
• Progressive lung disease is the main cause of death
• The lungs are usually normal at birth
• Shortly after birth, many patients with CF acquire a lung
infection, which leads to an inflammatory response
• Infection may become established with a distinctive
bacterial flora
• A repeating cycle of infection and neutrophilic
inflammation then develops
• Pulmonary involvement is progressive. Beginning as
bronchitis, bronchiolitis, and, bronchiectasis this may
lead to cor pulmonale and end-stage lung disease
• Clinical presentation, age at diagnosis, severity
of symptoms, and rate of progression varies
widely
• This is a multi-system disease involving the
lungs, sinuses, sweat glands, pancreas and gut,
reproductive system, and liver
• Hemoptysis and pneumothorax are
complications
• Sweat abnormalities may result in heat stroke
and salt depletion, especially in infants
• Mucocele and muco-pyocele associated with chronic
sinusitis and nasal polyps can cause erosion of the sinus
wall, resulting in central nervous system complications
from the space-occupying effect of muco-pyocele or from
associated complications
• Portal hypertension occasionally causes death through
oesophageal varices
• Gastrointestinal tract complications result from
pancreatic involvement (leading to insufficient pancreatic
enzymes), pancreatic tissue damage (leading to
diabetes mellitus in 8-12% of patients >25 y), and
excessive administration of exogenous pancreatic
enzymes (resulting in fibrosing colonopathy)
• Intestinal complications range from meconium
ileus with associated complications during the
neonatal period (12% of neonates with CF) to
distal intestinal obstruction syndrome, rectal
prolapse, peptic ulcer, and gastroesophageal
reflux
• Liver involvement may result in a fatty liver (3060% of patients), focal biliary cirrhosis,
multinodular biliary cirrhosis, and associated
portal hypertension
• The prevalence of cholecystitis and gallstones is
higher in patients with CF than in other
individuals
• Delayed puberty and reduced fertility are other
complications; most males are azoospermic
because of agenesis of the vas deferens
• Female fertility is probably only mildly impaired,
and many successful pregnancies have been
reported in women with CF
Diagnosis
• The diagnosis of CF is based on typical
pulmonary and/or gastrointestinal tract
manifestations, a family history, and
positive results on sweat test