cystic fibrosis

Komplette
lipomatöse Umwandlung des Pankreas bei einem 45-jährigen Mukoviszidosepatienten. MRT links T2 axial, rechts T1 axial, wo man median ventral der V. lienalis noch ein Gewebe mit etwas dunklerem Signal erahnt.
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Preschooler
with cystic fibrosis and abdominal pain. AXR supine (above left) shows multiple dilated loops of small bowel with a stool-like mass in the mid-abdomen. AXR upright (above right) shows multiple air-fluid levels. AP image from an enema with high osmolar water soluble contrast (below) shows complete opacification of a normal appearing colon. The terminal ileum could not be refluxed and specifically the stool-like mass in the mid-abdomen could not be reached with contrast.The diagnosis was small bowel obstruction due to distal intestinal obstruction syndrome in a patient with cystic fibrosis.
pediatricimaging.org • CC-by-nc-sa 4.0
School ager
with fever and coughCXR shows a round cavitary lesion with an air-fluid level in the left upper lobe.The diagnosis was cystic fibrosis with bacterial pneumonia due to Staphylococcus with a lung abscess.
pediatricimaging.org • CC-by-nc-sa 4.0
Young adult
with hemoptysisCXR (left) shows chronic changes of cystic fibrosis. Bronchial artery angiogram (right) shows hypertrophy of the right-sided bronchial arteries.The diagnosis was cystic fibrosis with pulmonary hemorrhage.
pediatricimaging.org • CC-by-nc-sa 4.0
Teenager with
pancreatic insufficiencyAXR shows calcifications throughout the pancreas.The diagnosis was cystic fibrosis with pancreatic insufficiency.
pediatricimaging.org • CC-by-nc-sa 4.0
Young adult
with cystic fibrosis with continued shortness of breath after chest tube placementCXR AP (left) shows chronic interstitial fibrosis and scarring in the lungs, a left-sided chest tube, and a moderately-sized basilar left pleural air collection manifesting as a deep sulcus sign. Gross pathological specimen (right) shows the left chest tube entering the upper lobe of the left lung. The diagnosis was persistent pneumothorax in a patient with cystic fibrosis due to the chest tube tip not being in the pleural space.
pediatricimaging.org • CC-by-nc-sa 4.0
Beyond
bronchitis: a review of the congenital and acquired abnormalities of the bronchus. Bronchiectasis due to cystic fibrosis. a Frontal chest x-ray demonstrating upper lobe prominent course interstitial markings, patchy areas of increased airspace opacity, and bronchiectasis involving the lungs bilaterally. b Axial CT imaging demonstrating upper lobe-predominant cystic and varicoid bronchiectasis and bronchial wall thickening (solid arrow). c Axial CT imaging in another patient demonstrates bronchiectasis and mucoid impaction (dashed arrow) with “finger-in-glove” sign
insightsimaging.springeropen.com • Open Access
The clothes
maketh the sign. Axial high resolution CT image of dilated airways in a 19-year-old woman with cystic fibrosis. The airway diameter exceeds that of adjacent pulmonary artery resembling a jewelled or signet ring (inset)
insightsimaging.springeropen.com • Open Access
Imaging of
congenital lung diseases presenting in the adulthood: a pictorial review. Imaging findings of congenital diseases causing bronchial dilatation. 3D reconstruction (a) and coronal CT image (b) show dilatation of the main airways in a patient with Mounier-Kuhn syndrome. Bronchiectasis, centrilobular opacities, and increased density predominantly affecting the lower lobes of the lungs are seen in a patient diagnosed with Kartagener (c, d). Upper lobe-predominant bronchiectasis and thickened bronchial walls are observed in cystic fibrosis (e–g). Severe and bilateral cystic bronchiectasis in the subsegmental bronchi (4th and 6th generation) is seen in a patient with Williams–Campbell syndrome (h)
insightsimaging.springeropen.com • CC-by-4.0
Komplette
lipomatöse Umwandlung des Pankreas bei einem 45-jährigen Mukoviszidosepatienten. MRT links T2 axial, rechts MRCP, in der man einen Pankreasgang nicht mehr sicher abgrenzen kann.
Wikipedia • CC BY-SA 3.0
School ager
being evaluated for lung transplantation. CXR AP and lateral (above) show bilaterally hyperexpanded lungs with a coarse interstitial pattern, bronchial wall thickening and bronchiectasis. Axial CT without contrast of the chest show thickened interlobular septa and bronchiectasis in the bilateral upper (below left) and lower (below right) lobes.The diagnosis was cystic fibrosis.
pediatricimaging.org • CC-by-nc-sa 4.0
Radiopaedia • CC-by-nc-sa 3.0 • de

Cystic fibrosis (CF), also called mucoviscidosis, is an autosomal recessive genetic disease that affects the exocrine function of the lungs, liver, pancreas, small bowel, sweat glands, and the male genital system . resulting in progressive disability and multisystem failure. This article is a general discussion of the disease. Each organ system will be discussed separately.

Epidemiology

Cystic fibrosis is the most common genetic disease affecting European population with an incidence of approximately 1:2000-3500 live births .

Clinical presentation

The diagnosis may be suspected antenatally due to the presence of echogenic bowel on antenatal ultrasound, or due to genetic testing of the parents.

In many countries, the presence of cystic fibrosis is tested for immediately after birth with a sweat test (positive sweat chloride test Cl >60 mEq/L) . Alternatively, genetic testing is also available.

The diagnosis usually becomes evident in infancy, with presentations including:

Pathology

Genetics

Cystic fibrosis is due to a homozygous defect of the CFTR gene located on chromosome 7q31.2. This gene encodes for a transmembrane protein known as cystic fibrosis transmembrane regulator (CFTR) which is responsible for regulating chloride passage across cell membranes. There are at least 6 classes of mutations, the commonest being ∂F508 (66-70%) .

In skin, unlike elsewhere, the CFTR protein is responsible for the influx of chloride and increases the sodium channel activity, thus controlling the influx of sodium. The net effect of a normally functioning CFTR is to resorb sodium and chloride. In CF patients, this is lost and therefore the characteristic increase in salt content of sweat (thus the sweat test).

In tissues other than skin, the CFTR protein is responsible for efflux of chloride and inhibition of the sodium channel's activity which controls the influx of sodium. Therefore, under normal circumstances, salt and chloride remain in the lumen and keep water there osmotically. In CF patients, too little chloride is pumped out, too much sodium is resorbed with osmotic resorption of water from the lumen. The result is iso-osmotic, but low volume, secretions, which tend to dry out, or be thick as they still contain all the other constituents.

Treatment and prognosis

Early institution of multidisciplinary treatment is essential and responsible for the dramatic increase in life expectancy, now reaching 40 or more years.

Treatment options include :

  • prolonged courses of antibiotics
  • oral and inhaled corticosteroids
  • pancreatic enzyme supplementation: required in 85% cases
  • vitamin supplementation
  • insulin
  • physiotherapy
  • lung transplantation

In the 2010s, a new group of drugs specifically targetting the molecular defects in cystic fibrosis known as CFTR modulators were introduced. These specifically act on the defective cystic fibrosis transmembrane regulator (CFTR) .

  • ivacaftor: most effective in those with G551D defect, only 2.3% patients
  • lumacaftor: designed for the common ∂F508 mutation, but little functional improvements in trials
  • lumacaftor and ivacaftor: combination therapy: approved for ∂F508 mutations

Both transplanted and non-transplanted CF patients are at increased risk of some malignancies :

Siehe auch:
und weiter:
Assoziationen und Differentialdiagnosen zu zystische Fibrose:
Pneumothorax
 
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Steatosis
hepatis
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Leberzirrhose
 
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Mekoniumileus
 
pediatricimaging.org • CC-by-nc-sa 4.0
pulmonale
Hypertonie
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distal
intestinal obstruction syndrome (DIOS)
pediatricimaging.org • CC-by-nc-sa 4.0
pulmonale
Manifestationen der Mukoviszidose
insightsimaging.springeropen.com • Open Access
abdominelle
Manifestationen bei Mukoviszidose
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