Cystic fibrosis
Cystic fibrosis is the most common, life-threatening, inherited disease in the UK. It is described as an autosomally recessive disease, meaning both parents have to be carriers of the faulty gene found on the long arm of chromosome seven. When both parents are carriers, there is a one in four chance of the baby inheriting cystic fibrosisat every pregnancy.
Article by Robert Walker
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Key Points
- Cystic fibrosis is an autosomal recessive disorder.
- Cystic fibrosis is a multi-system disease.
- Cystic fibrosis is caused by impaired chloride ion transport resulting in abnormally concentrated fluid on epithelial surfaces.
- The incidence in the UK is approximately 1 in 2500 live births and the carrier frequency is 1 in 25.
- Cystic fibrosis is the result of the most common genetic mutation in the UK is ∆F508.
- There are approximately 7500 children and adults with cystic fibrosis in the UK.
- Median life expectancy is 34 years.
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Definition
Cystic fibrosis is an inherited disease with what is technically known as autosomal recessive transmission. It is the most common, life-threatening, inherited disease in the UK.
It predominantly involves the respiratory and gastrointestinal systems, although liver disease, arthropathy, diabetes and infertility are also associated complications. Normally, cells in the body make secretions and mucus, but in cystic fibrosis these cells do not work properly and the secretions and mucus are much thicker than they should be. This thick, sticky mucus then causes blockages in the lungs and digestive tract, making it difficult to breathe and digest food properly.
The prevalence of the disease is higher in Caucasian populations than in those of other ethnic groups, with a frequency estimated at 1 in 2500 births (McAuley and Elborn, 2000). This compares to an incidence of 1 in 3500 in the USA, 1 in 1800 in Ireland and 1 in 2500 in
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Aetiology
Cystic fibrosis is caused by a single gene defect on chromosome 7. This genetic defect leads to the production of an abnormal protein called the cystic fibrosis transmembrane regulating protein (CFTR). In patients with cystic fibrosis, chloride ion transport is impaired, resulting in an abnormally concentrated fluid on the epithelial surfaces of the lungs and other organs. This makes the airway secretions viscous and difficult to clear, which predisposes the patient to a variety of bacterial infections and consequent lung damage (Dinwiddie, 1999).
Approximately 1 in 25 people carry this genetic defect. A baby born to parents who are both carriers of this gene will have a one in four chance of having the condition. If a child inherits just one cystic fibrosis gene, they will also become a carrier but will not develop the condition.
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Symptoms
Cystic fibrosis is a ‘multi system’ condition - this means that the excessive build-up of thick mucus affects several organs in the body, although primarily the lungs and digestive tract are affected.
Symptoms will usually develop before a baby reaches a year old although some children can develop symptoms later in their childhood.
Lungs
In a healthy person, a continuous flow of mucus helps remove bacteria from the surfaces of the air passages in the lungs. With cystic fibrosis, this mucus is thick and sticky so is unable to remove bacteria effectively - the mucus also provides a perfect environment for the bacteria to live and grow, so an individual with cystic fibrosis is more at risk of contracting bacterial infections. If these infections are not treated promptly they can be very hard to remedy and this can lead to permanent lung damage.
Digestive system
Cystic fibrosis also affects the
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Management
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Table 1. Common nebulised drugs for cystic fibrosis |
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| Drug class | Effect/administration | Examples |
| Bronchodilators |
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| Antibiotics |
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| Mucolytics |
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Physiotherapy
Physiotherapy has long played an important role in the respiratory management of cystic fibrosis. The role of the physiotherapist is not limited to assisting airway clearance, but also includes encouragement and advice on exercise, posture, mobility, inhalation therapy, stress incontinence and non-invasive ventilation support. There are many different treatment modalities available for airway clearance, such as active cycle or breathing techniques, autogenic drainage, positive expiratory pressure, or devices such as Flutter, Cornet or Acapella. The physiotherapist will work with each patient to find a safe, effective and manageable way. Reviews
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Resources
References
Dinwiddie R. Cystic fibrosis: Aetiology and pathology. Hospital Pharmacist 199; 6: 6–8
McAuley DF, Elborn JS. Cystic Fibrosis: basic science. Paed Respir Rev 2000;1:93–100. https://doi.org/10.1053/prrv.2000.0029
Moran F, Bradley J. Non-invasive ventilation for cystic fibrosis. Cochrane Database Syst Rev 2003;(2):CD002769. https://doi.org/10.1002/14651858.CD002769.pub5
Nazer D, Abdulhamid I, Thomas R, Pendleton S. Home versus hospital intravenous antibiotic therapy for acute pulmonary exacerbations in children with cystic fibrosis. Pediatr Pulmonol. 2006;41(8): 744–9. https://doi.org/10.1002/ppul.20433
Extra Reading:
Blake J. A Unique Child - Health: A guide to ... Cystic fibrosis in children. Nursery World. 2009; 2009(4). https://doi.org/10.12968/nuwa.2009.21.4.1092744
Dack K, Cunha A, Madge S. The management of cystic fibrosis. Practice Nurs. 2007; 18(9):442-449. https://doi.org/10.12968/pnur.2007.18.9.27155
Madge S. Understanding cystic fibrosis. Independent Nurse. 2005; 2005(4). https://doi.org/10.12968/indn.2005.1.4.73662
Mallia P. Cystic fibrosis presenting in adults. Hosp Med. 1999;60(1):29-33. https://doi.org/10.12968/hosp.1999.60.1.1021
Walker R. Cystic fibrosis. Early Years Educator. 2001; 2(10):42-43. https://doi.org/10.12968/eyed.2001.2.10.15316
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