Cystic Fibrosis

A podcast sponsored by Oxford University Press. All you need to know about Cystic Fibrosis.

 

Lecture by

Video Duration: 1329 minutes

  • Cystic Fibrosis
    Created by Helen Bartlett
    General
    Epidemiology

    Cystic fibrosis is an autosomal recessive condition that affects multiple organs, primarily respiratory and pancreatic systems

    It is the most common life-threatening autosomal disorder, with 1 in 25 people being carriers in the caucasion community, and 1 in 2500 life births having the disease

    Pathology

    Caused by mutations in the CFTR (cystic fibrosis transmembrane conductance regulator) gene. CFTR is a glycoprotein which is found in epithelium cells of airways, ducts of pancreas, sweat glands, biliary system and vas deference. The glycoprotein is an ATP regulated chloride channel. Loss of function results in decrease excretion of chloride and increased resorption of sodium.


    Results in viscous secretions in respiratory tract, pancrease, gastrointestinal tract, sweat glands and other exocrine tissue.

    Top three causes

    Most common mutation is in F508 of CFTR gene

    Clinical Features
    Symptoms

    Respiratory

    • Recurrent chest infections
    • Cough
    • Wheezing
    • Recurrent sinusitis

    Gastrointestinal

    • Steatorrhoea
    • Failure to thrive
    • Flatulence
    • Recurrent abdominal pain
    Signs

    Respiratory

    • Atypical asthma
    • Nasal polyps
    • Sinusitis
    • Clubbing
    • Increased AP diameter of chest
    • Crackles
    • Tachypnoea
    • Wheeze

    Gastrointestinal

    • Meconium ileus
    • Intestinal atresia
    • Delayed passage of meconium
    • Jaundice
    • Rectal prolapse
    • Anaemia
    • Hepatospenomegaly
    • Abdominal distension
    Investigations
    Cultures

    Sputum culture

    Bloods

    IRT newborn screen

    FBE, coagulation, UEC, LFT

    Fat soluble Vitamin levels

    Imaging

    CXR

    Scopic/Biopsy

    None

    Functional

    Sweat test -quantitative pilocarpine iontophoesis test

    • Borderline Cl-40-60 mmol/l, Positive Cl>60 mmol/L
    • Must be repeated if positive, only appropriate in children over 2 years

    DNA analysis

    • CFTR analysis for F508 and up to 30 other mutations
    Treatment
    Conservative

    Physiotherapy

    Nutritional

    • Vitamin A, D, E, K supplements
    • Diet high fat, high calorie
    Medical

    Respiratory

    • Antibiotics - prophylactic (flucloxacillin) and treatment of acute infection
    • Mucolytics (DNAase)
    • Bronchodilators
    • Steroids

    GI

    • Pancreatic enzymes: Creon
    • PPI
    Surgical

    Lung transplantation