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Cystic Fibrosis    

Title               

Ñ    Cystic Fibrosis

Definition

Ñ    Inherited disease

Ñ    That causes alteration in the

Ñ    Tenacity and viscosity of mucous

Ñ    Produced by epithelial surfaces

Aetiology

Ñ    Autosomal recessive inheritance

Ñ    Gene mutation on the long arm of chromosome 7

Pathogenesis

Ñ    Failure of opening of chloride channels in response to elevated cyclic AMP

Ñ    Results in less salt and water in mucous making it thick and tenacious

Clinical Features

History

Ñ    Presents in childhood or early adult life

RS

Ñ    Sinusitis

Ñ    Nasal polyps

Ñ    Bronchopulmonary infections

Ñ    Breathlessness

Ñ    Haemoptysis

Examination

E&M

Ñ    Nutritional failure

Ñ    Diabetes mellitus

IS

Ñ    Clubbing

RS

Ñ    Bronchiectasis

GIT

Ñ    Meconium ileus:

Infancy

Ñ    Meconium ileus equivalent syndrome (MIE):

Later in life

Ñ    Pancreatic insufficiency

Ñ    Cirrhosis

Ñ    Gallstones

Ñ    Increased incidence of peptic ulcer

Ñ    Increased incidence of gastrointestinal malignancy

RAG

Females

Ñ    Delayed puberty

Ñ    Secondary amenorrhoea

Ñ    Able to conceive

Males

Ñ    Delayed puberty

Ñ    Usually infertile:

Failure of development of vas deferens and epididymis

LMS

Ñ    Delayed skeletal maturity

Ñ    Arthropathy

Complications

CVS

Ñ    Cor pulmonale

RS

Ñ    Pneumothorax

Ñ    Respiratory failure

Investigations

Fluids

Sweat

Ñ    High sweat sodium concentration:

> 60 mmol/L

Blood

Genetics

Ñ    DNA analysis

Biochemistry

Ñ    Trypsin levels:

Useful for screening

Imaging

Chest X-ray and CT scan of chest

Ñ    Changes of bronchiectasis

Management

Control

Drugs

Ñ    Antibiotics:

For chest infections

Ñ    Reduce inflammation:

Inhaled antibiotics and steroids

Ñ    Increase hydration of secretions:

·          Amiloride

·          Trphosphate nucleotide:

Adenosine or uridine triphosphates-ATP or UTP-stimulate nucleotide receptors independent of cAMP

Ñ    DNAase:

Inhaled DNAase breaks down DNA from dead cells

DNA contributes to increased viscosity of sputum

Staffing

Ñ    Physiotherapy:

Clear secretions

Support

Drugs

Ñ    Pancreatic insufficiency:

Pancreatic supplements

Biological Agents

Ñ    Lung transplantation

Ñ    Heart-lung transplantation

Lifestyle Adjustments

Diet

Ñ    Nutritional support

Prevention

Lifestyle Adjustments

Ñ    Genetic screening

Prognosis

Ñ    Prognosis has improved

Ñ    Median survival for those born after 1990 is estimated at 40 years

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