CYSTIC FIBROSIS
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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

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

  • Lungs: chronic suppurative lung disease

  • Pancreas:chronic exocrine pancreatic insufficiency

  • liver

  • intestines

  • sinuses

  • reproductive organs


  • An abnormal gene causes mucus to become

    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


Basic defect

  • 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


Autosomal recessive disorder


INCIDENCE

  • 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


  • Clinical manifestations

    Clinical manifestations


    • Previously, CF was a childhood disease, it has become an adult pulmonary condition

    • Currently, one third of the population with this paediatric disease is adult, and patients as old as 60 years are seen

    • Median survival now 29-31 years


    • 70% of patients, diagnosed prior to 1 year

    • In 8% of patients, the diagnosis is not established until after the age of 10 years

    • Diagnosed in an increasing number of adults


    Features at the time of presentation

    • 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


    • Thick mucus blocks the airways

    • 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


    • There is frequent colonization and persistent infection by these bacteria

    • Chronic inflammation promotes tissue destruction via the excessive release of elastase by recruited neutrophils


    • Bronchiectasis with progressive productive cough and green/brown sputum multiple chest infections

      • initially in the upper lobes then through out

        both lungs

    • Pneumothorax may occur


    • Aspergillus fumigatus and allergic broncho pulmonary aspergillosis may occur in some (20%)

    • Nasal polyposis

    • Eventually pulmonary fibrosis may lead to death from

      • cor pulmonale

      • ventilatory failure


    OTHER SYSTEM INVOLVEMENT


    Gastrointestinal manifestations

    • 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


    • Distal ileus obstruction syndrome - meconium ileus equivalent

    • Rectal prolapse - due to bulky stools

    • Biliary stricture

    • Gallstones, cholecystitis

    • Intussusception

    • Complications secondary to fat-soluble vitamin deficiency


    Other manifestations

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

    • Affected females are subfertile

    • Hypertrophic pulmonary osteoarthropathy

    • Cystic fibrosis arthropathy


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

      • 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


    CLINICAL FEATURES


    • Clubbing- 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


    Sweat test:

    • 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


    Nasal potential difference testing


    • Individuals with cystic fibrosis have a raised potential difference across the nasal respiratory epithelium; 45 mV in comparison with 15 mV in normal individuals


    ABG analysis- Hypoxemia

    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 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


    • as the disease progresses, bilateral, irregular, fine, blotchy shadowing appears in the middle and upper zones

    • more advanced disease yields the radiological features of bronchiectasis, with:

      • thickened bronchial walls

      • cystic shadows with fluid levels


    1. Bilateral diffuse

    Multiple cavities 2. Bronchiectasis

    3. Peribronchial fibrosis

    4. Prominent hilum

    5. Hyperinflated lungs


    • sputum culture

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

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


    • glucose tolerance test

    • 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


    MANAGEMENT


    severe bronchiectasis

    • 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


    • bronchi of many CF patients become colonised with pathogens resistant to most antibiotics

    • strains of P. aeruginosa, Stenotrophomonas maltophilia require prolonged treatment with unusual combinations of antibiotics


    • oral macrolides such as azithromycin also reduce exacerbations and improve lung function in patients with Pseudomonas colonisation


    • coexistent asthma, which is treated with inhaled bronchodilators & corticosteroids

      (allergic bronchopulmonary aspergillosis occasionally occurs in CF)


    Nebulised recombinant human deoxyribonuclease (DNase)

    • 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

    • 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


    somatic gene therapy


    Manufactured normal CF gene can be delivered

    to the respiratory epithelium by inhaled therapy

    to correct the genetic defect


    Future is always hopeful

    Humanity will keep on wining


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