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CYSTIC FIBROSIS. ALOK SINHA Department of Medicine Manipal College of Medical Sciences Pokhara , Nepal. Cystic fibrosis (CF) is an inherited disease of mucus glands of body causing progressive disability due to multisystem failure Affects mostly

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Cystic fibrosis

CYSTIC FIBROSIS

ALOK SINHA

Department of Medicine

Manipal College of Medical Sciences

Pokhara, Nepal


Cystic fibrosis

Cystic fibrosis (CF) is an inherited disease of mucus glands of body causing progressive disability due to multisystem failure

Affects mostly

  • Lungs: chronic suppurative lung disease

  • Pancreas:chronic exocrine pancreatic insufficiency

  • liver

  • intestines

  • sinuses

  • reproductive organs


Cystic fibrosis

  • An abnormal gene causes mucus to become of body causing progressive disability due to multisystem failure

    Thick and sticky

  • gene is called

    CFTRGene

    (cystic fibrosis transmembrane conductance regulator)

    This is also known as delta-F508 mutation

  • This gene makes a protein-CFTR Protein

  • It controls movement of salt and water in and out of the cells in body

The CFTR gene is found on the long (q) arm of human chromosome 7


Cystic fibrosis

Basic defect of body causing progressive disability due to multisystem failure

  • Defective channel leads to a high concentration of sodium & chloride in exocrine secretions (normally Chloride > Sodium in sweat but in CF Sodium > Chloride. Their level is half of Serum and K+ is double)

  • Leading to thick viscous & difficult-to-clear secretions in lungs and other orgnas mentioned earlier

  • Patients with CF present with multi systemic disease involving several or all of the organs mentioned


Cystic fibrosis

Autosomal recessive disorder of body causing progressive disability due to multisystem failure


Incidence
INCIDENCE of body causing progressive disability due to multisystem failure

  • One of the most common inherited diseases among Caucasians

  • About 1 in every 3,000 babies born in the United States has CF

    • heterozygotes (carriers) is estimated to be 5%

  • CF is much less common among:

    • Africans

    • Asians – 10 times less


  • Cystic fibrosis

    Clinical manifestations of body causing progressive disability due to multisystem failure

    Clinical manifestations


    Cystic fibrosis


    Cystic fibrosis


    Cystic fibrosis

    Features at the time of presentation adult pulmonary condition

    • Meconium ileus: 10% of newborns present as intestinal obstruction in the first days of life

      • meconium ileus equivalent may occur in later life

    • Recurrent respiratory infections: common presenting feature

    • Failure to thrive affects about 50% of CF patients in childhood and infancy; as a result of pancreatic insufficiency


    Respiratory manifestations
    Respiratory manifestations adult pulmonary condition


    Cystic fibrosis

    • Thick mucus blocks the airways adult pulmonary condition

    • Leads to bacterial growth, colonization & repeated serious lung infections leading to lung damage

    • Lungs are infected with

      • Staph. aureus initially

      • Pseudomonas aeruginosa by the time

        they reach adolescence


    Cystic fibrosis


    Cystic fibrosis


    Cystic fibrosis


    Cystic fibrosis

    OTHER SYSTEM INVOLVEMENT aspergillosis may occur in some


    Gastrointestinal manifestations
    Gastrointestinal manifestations aspergillosis may occur in some

    • Pancreatic insufficiency leading to malabsorption and failure to thrive

    • Acute pancreatitis

    • Intrahepatic bile duct obstruction caused by abnormal inspissated bile causes

      • Liver cirrhosis

      • Portal hypertension

        • gynaecomastia and other signs of chronic liver disease eg hepatosplenomegaly


    Cystic fibrosis


    Other manifestations
    Other manifestations equivalent

    • Infertility due to failure of development of the vas deferens - obstructive azoospermia

    • Affected females are subfertile

    • Hypertrophic pulmonary osteoarthropathy

    • Cystic fibrosis arthropathy


    Cystic fibrosis

    • Diabetes mellitus - in 10-20% of adult patients – equivalent

      • a result of blockage of the pancreatic ducts due to abnormal pancreatic secretions and autodigestion of the pancreas

    • Vasculitis, purpura

    • Salt loss syndrome - Acute salt depletion and chronic metabolic alkalosis


    Cystic fibrosis

    CLINICAL FEATURES equivalent


    Cystic fibrosis

    • Clubbing equivalent- constant feature

    • Features of hyperinflation

      • Increased AP diameter of chest

      • Decreased expansion of lung

      • Hyperresonant percussion note & obliternation of hepatic and card. dullness

      • Vesicular br. Sound with prolonged exp

    • Features of bronchiectasis

      • clubbing & persistent coarse crepts

    • Features of malabsorption


    Lab investigations
    Lab investigations equivalent


    Cystic fibrosis

    Sweat test: equivalent

    • Diagnostic of cystic fibrosis

    • Induced by intra-dermal injection of pilocarpine

    • Chloride concentration > than 60 mmol/l

    • Sodium concentration is greater than 70 mmol/l

    • Sodium concentration is greater than chloride concentration in the sweat



    Cystic fibrosis


    Cystic fibrosis

    ABG analysis- Hypoxemia difference across the nasal respiratory epithelium; 45 mV in comparison with 15 mV in normal individuals

    Compensated resp Acidosis

    P.F.T. Mixed Obstructive & Restrictive pattern

    fecal fat and pancreatic-enzyme secretion tests

    Semen analysis – azoospermia

    Ultrasound abdomen – for pancreatitis and cirrhosis


    Chest radiography
    Chest radiography difference across the nasal respiratory epithelium; 45 mV in comparison with 15 mV in normal individuals

    • Chest radiographs may be normal in patients with CF who have mild lung disease

    • Hyperinflation is the earliest change

      initially reversible with treatment later becomes persistent

      flattening of the diaphragm – classic sign

      caused by mucus plugging of small bronchioles


    Cystic fibrosis


    Cystic fibrosis

    1. blotchy shadowing appears in the middle and upper zonesBilateral diffuse

    Multiple cavities 2. Bronchiectasis

    3. Peribronchial fibrosis

    4. Prominent hilum

    5. Hyperinflated lungs


    Cystic fibrosis

    • sputum culture blotchy shadowing appears in the middle and upper zones

    • skin test for aspergillus as 20% develop allergic bronchopulmonary aspergillosis

    • in severe cases arterial blood gas sampling shows chronic hypoxia and hypercapnia


    Cystic fibrosis

    • glucose tolerance test blotchy shadowing appears in the middle and upper zones

    • malabsorption screen: fecal fat estimation

    • full blood count - macrocytosis suggests vitamin B12 or folate deficiency

    • calcium - low in vitamin D deficiency

    • albumin - protein losing enteropathy; for corrected calcium


    Cystic fibrosis

    MANAGEMENT blotchy shadowing appears in the middle and upper zones


    Cystic fibrosis

    severe bronchiectasis blotchy shadowing appears in the middle and upper zones

    • regular chest physiotherapy

    • more frequently during exacerbations

    • infections with Staph. aureus can often be managed with oral antibiotics

    • I.V. treatment needed for Pseudomonas

    • Nebulised antibiotic therapy with

      • Colomycin

      • Tobramycin

        is used between exacerbations to suppress chronic Pseudomonas infection


    Cystic fibrosis


    Cystic fibrosis


    Cystic fibrosis


    Cystic fibrosis

    Nebulised recombinant human deoxyribonuclease (DNase) bronchodilators & corticosteroids

    • liquify the CF sputum by breaking up the excess of viscous DNA derived from disintegrated inflammatory cells

    • significant improvement in pulmonary function and a reduction in the number of infective exacerbations in a subgroup of patients

    • treatment is very expensive


    Non respiratory manifestations of cf
    non-respiratory manifestations of CF bronchodilators & corticosteroids

    • clear link between good nutrition and prognosis

    • Malabsorption is treated with oral vitamins and pancreatic enzyme supplements

    • increased calorie requirements: supplemental feeding including nasogastric or gastrostomy tube feeding if required

    • Diabetes often requires insulin therapy

    • Osteoporosis secondary to malabsorption and chronic ill health should be sought and treated


    Cystic fibrosis

    somatic gene therapy bronchodilators & corticosteroids


    Cystic fibrosis

    Manufactured normal CF gene can be delivered bronchodilators & corticosteroids

    to the respiratory epithelium by inhaled therapy

    to correct the genetic defect


    Cystic fibrosis

    Future is always hopeful bronchodilators & corticosteroids

    Humanity will keep on wining