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CYSTIC FIBROSIS

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Imaging in Cystic Fibrosis

Published in: Health & Medicine

CYSTIC FIBROSIS

  1. 1. DR. AMEEN RAGEH
  2. 2. INTRODUCTION Is an inherited multisystem disorder of children and adults It is the most common life-limiting recessive genetic trait among white persons. Is responsible for most cases of exocrine pancreatic insufficiency in early life and is the major cause of severe chronic lung disease in children. Responsible for many cases of salt depletion, nasal polyposis, pansinusitis, rectal prolapse, pancreatitis, cholelithiasis, and insulin-dependent hyperglycemia.
  3. 3. GENETIC The cystic Fibrosis gene was isolated in 1989 and mapped to chromosome 7. More than 1300 different mutations of this gene have been identified, all of which cause a defect in chloride transport across the cell membrane; The severity of chloride channel dysfunction varies widely with different mutations.
  4. 4. PATHOPHYSIOLOGY  Dysfunction of the cystic fibrosis transmembrane conductance regulator protein (CFTR).  CFTR is expressed largely in epithelial cells of airways, the gastrointestinal tract (including the pancreas and biliary system), the sweat glands, and the genitourinary system.  It functions as a chloride channel and has other regulatory functions  The alteration in chloride transport is associated with production of abnormally thick secretions in glandular tissues. The lung bronchioles and pancreatic ducts are primarily affected, often resulting in progressive destruction of these organs
  5. 5. PATHOPHYSIOLOGY The result is that these secretions are retained and obstruct airways, starting with those of the smallest caliber, the bronchioles. In the pancreatic and biliary ducts (and in the vas deferens), leading to desiccation of proteinaceous secretions and obstruction. The function of sweat gland duct cells is to absorb rather than secrete chloride, salt is not retrieved from the isotonic primary sweat as it is transported to the skin surface; chloride and sodium levels are consequently elevated
  6. 6. Sequelae Chronic infection in CF is limited to the airways. A likely explanation for infection is a sequence of events starting with failure to clear inhaled bacteria promptly and then proceeding to persistent colonization and an inflammatory response in airway walls. High prevalence in patients with CF of airway colonization with Staphylococcus aureus, Pseudomonas aeruginosa, and Burkholderia cepacia, organisms that rarely infect the lungs of other individuals
  7. 7. Clinical presentation Most common signs/symptoms: Recurrent respiratory tract infections • Other signs/symptoms o With mild disease, may be asymptomatic o Chest • Wheezing, chronic cough, hemoptysis, progressive respiratory failure, cor pulmonale • Digital clubbing • Pansinusitis and nasal polyps o Intestinal tract • Meconium peritonitis, meconium ileus (10-15% of newborns with CF), distal intestinal obstruction syndrome = meconium ileus equivalent, intussusception, rectal prolapse.
  8. 8. Clinical presentation o Hepatobiliary • Cirrhosis, portal hypertension, hypersplenism, esophageal varices that may bleed, cholelithiasis o Pancreas • Steatorrhea: Frequent, bulky, greasy, large, foul-smelling stools that float in water • 8% develop diabetes mellitus • Occasional deficiency of vitamins A, D, E, and K o Urogenital • Delayed sexual development, azoospermia due to failure of vas deferens to develop, undescended testes, hydrocele, secondary amenorrhea o Dry skin, salty taste to skin o Failure to thrive
  9. 9. RADIOLOGICAL EVALUATION  Medical imaging provides an invaluable service for the diagnosis and treatment of cystic fibrosis.  Each modality is valuable in detecting different symptoms that can arise due to cystic fibrosis.  Possible connections between abdominal and pulmonary pathologies have increased the likelihood of catching cystic fibrosis using multiple imaging modalities together.
  10. 10. RADIOLOGICAL EVALUATION Prenatal diagnosis Post natal diagnosis Pulmonary manifestation Extra pulmonary manifestation
  11. 11. PRE-NATAL DIAGNOSIS  pre-natal diagnosis of CF and post-natal complications is well documented Fetuses with CF have been associated with hyperechogenic fetal bowel detected by ultrasound during the second and third trimesters of pregnancy.  Bowel is considered hyperechogenic if its echogenicity (brightness) is equal to or greater than that of the adjacent iliac bone
  12. 12. Pulmonary manifestations
  13. 13. Radiography Chest x-rays are insensitive to the early changes of cystic fibrosis, with changes seen on HRCT in 65% of patients with CF and normal CXR. Later changes include:  Hyperinflation  bronchiectasis  lobar collapse  pulmonary arterial enlargement due to pulmonary arterial hypertension is seen in patients with long standing disease
  14. 14. Brasfield scoring system air trapping linear markings nodular cystic lesions large lesions general severity 0: absent 4: most severe 0: absent 4: most severe 0: absent 4: most severe 0: absent 3: segmental/lobar atelectasis and pneumonia 5: multiple atelectasis and pneumonia 0: absent 1-3: increasing severity 4: complications (cardiac enlargement, pneumothorax) 5: most severe Is a scoring system for cystic fibrosis. It is based on plain film radiographic findings and has been reported to have a good correlation with pulmonary function Overall score: 25-total de merit points (the lower the overall score, the worse the disease severity) Minimum possible score: 3
  15. 15. HRCT chest  HRCT has become indispensable in the monitoring of CF patients, and is used to guide therapy and assess response to treatment, as it not only correlates with lung function.  Typically scans are repeated every 6 to 18 months depending on institution and clinical course.  Mucous plugging is of particular importance as it is thought to precede infective exacerbations and thus identification of such plugging may be used to trigger changes in therapy. The use of low dose protocols is able to significantly reduce cumulative radiation dose
  16. 16. HRCT chest findings bronchial wall and / or Peribronchial interstitial thickening acute infectious bronchiolitis bronchiectasis mosaic attenuation pattern mucus plugging within bronchi especially early in the disease • especially early in the disease • tree-in-bud appearance • centrilobular nodular opacities • branching opacities • progresses with time from cylindrical to varicose to cystic • signet ring sign due to air trapping best seen on expiratory scans finger in glove appearance
  17. 17. The nose and sinuses  The upper airways are very frequently affected in CF, with over 75% of patients reporting some kind of sinus or nasal symptom such as nasal or sinus obstruction, nasal discharge, post-nasal drip and facial pain  Imaging findings includes small hypoplasic sinuses, thickened nasal turbinates and thickened mucosa of the sinuses.  Chronic inflammation and thickening of the mucosa of the nasal cavities and sinuses result in formation of inflammatory polyps and the accumulation of mucus in obstructed sinuses
  18. 18. Extra pulmonary manifestation  Abdominal manifestations in cystic fibrosis are common, varied and nearly all organ systems can be affected. Only 39% of patients with cystic fibrosis (CF) have pulmonary symptoms as their sole complaint. This include:  Pancreatic manifestations  Hepatobiliary manifestations  Gastrointestinal manifestations  Renal manifestations  Musculoskeletal manifestations
  19. 19. Pancreatic manifestations  Autolysis of the pancreas due to viscous pancreatic enzymes and obstructed pancreatic ducts is known to start during intra-uterine life  This leads to fibrosis, atrophy and replacement of the pancreas by fat which clinically results in exocrine pancreatic insufficiency and malabsorption in up to 90% of patients.  Pancreatic cysts are a relatively common finding in CF and can vary in size and number. Rarely, cysts can replace the entire pancreas in a condition called pancreatic cystosis, which can cause pain through mass effect
  20. 20. Hepatobiliary manifestations Hepatobiliary manifestations are common in CF and include fatty infiltration of the liver (steatosis), focal biliary cirrhosis with portal hypertension, microgallbladder and gallstones. Patients are more frequently asymptomatic, but liver disease is the second most common cause of death in CF Splenomegaly as a result of portal hypertension can be seen as massive enlargement of the spleen causing pain, dyspnoea and signs of hypersplenism and sometimes complicated with splenic infarcts or subcapsular haematomas
  21. 21. Gastrointestinal manifestations  Meconium ileus: Bowel blockage of the newborn or meconium ileus is seen in 15-20% of neonates with CF and 25% of infants with meconium ileus prove to have CF Classically, above the obstruction the bowel is greatly distended with fluid content, while below this level, the distal ileum and colon are collapsed. Soon after birth, usually in 24 to 48 hours, the newborn will present with abdominal distension and vomiting
  22. 22. Gastrointestinal manifestations  Distal intestinal obstructive syndrome: DIOS is the equivalent of meconium ileus in adults.  It affects up to 15% of CF patients as a result of thickened intraluminal secretions, undigested food secondary to exocrine pancreatic insufficiency and impaired bowel motility  Abdominal radiograph and CT show dilated small bowel loops with fluid levels and faecal material within the small bowel (“small bowel faeces”).
  23. 23. Gastrointestinal manifestations  Intussusception: Intussusception is more common in CF patients than in the general population and is seen in 1% of paediatric patients. It is rare in adulthood and comprises 5% of all intussusceptions and 1% of bowel obstructions  Imaging reveals a bowel-within-bowel configuration which is pathognomonic of the condition
  24. 24. Gastrointestinal manifestations  Fibrosing colonopathy: has been reported in association with children prescribed high strength pancreatic enzyme supplements.  Imaging has a limited role demonstrating non-specific large bowel wall thickening and final diagnosis is usually obtained with histology, which depicts submucosal fibrosis
  25. 25. Renal manifestation  Nephrolithiasis: is another important differential diagnosis of acute abdominal pain as there is a reported increased frequency of renal stone disease in CF in comparison to the general population.  Initial assessment can be made with a CT of the kidneys, ureters and bladder (CT KUB) to confirm the diagnosis or with an ultrasound scan if obstruction and hydronephrosis is suspected in a patient with know nephrolithiasis
  26. 26. Musculoskeletal manifestations Hypertrophic pulmonary osteoarthropathy This condition consists of a triad of clubbing, symmetric arthritis and periosteal new bone formation Firstly associated with brochogenic carcinoma, it is also recognised in bronchiectasis, chronic lung inflammation and infection and CF
  27. 27. DIFFERENTIAL DIAGNOSIS  Recurrent aspiration • Often have predisposing neuromuscular abnormalities • Bronchiectasis in lower lobes and posterior segments i.e. the dependent portions of lungs • Pneumonia can sometimes be related to a preceding episode of choking or gagging with feeds  Asthma • Especially when complicated by ABPA and bronchiectasis • May be seasonal  Bronchopulmonary dysplasia • Improves as the patient ages • Recurrent aspiration • History of prematurity  Immotile cilia syndrome • Dysfunction of cilia in respiratory and auditory epithelium • Lower lobe predominant • May have situs inversus • May have associated cardiac anomalies
  28. 28. CASES
  29. 29. 24-year-old man with right-sided pleuritic chest pain presents to the Emergency Department.
  30. 30. ▶ Chest radiograph shows increased lung volumes and diffuse interstitial opacities emanating from the hila; many of them are parallel, indicative of bronchiectasis (worse in the upper lungs). Branching tubular densities in the right upper lobe represent mucus impaction in dilated bronchi. A small right pneumothorax is also present. ▶ CT findings include bronchial wall thickening, tubular and varicoid bronchiectasis signet-ring, mucoid-impacted bronchioles causing tree-in-bud, and mosaic
  31. 31. 26 years old male chronically ill patient with nausea vomiting and dehydration  Ct Images of the chest in lung windows demonstrated profound, diffuse, cystic dilatation of the airway. CT images of upper abdomen in soft tissue windows demonstrate a nodular, cirrhotic appearing liver, splenomegaly and complete fatty replacement of the pancreases

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