Frequently asked questions about cystic fibrosis
It is a genetic disease meaning you inherit it from your parents.1
Cystic fibrosis is the result of two disease-causing CFTR gene mutations that produce defective CFTR protein channels. These channels are either too few in number or do not work correctly. When they do not work correctly, the channels do not stay open long enough or do not open as often as they should.1,2
The normal Cystic Fibrosis Transmembrane conductance Regulator (CFTR) gene makes normal CFTR proteins. These proteins act like channels or ‘gates’ which open and close to allow water and chloride ions to move in and out of cells,3 for example in the lungs and pancreas.2
This helps the body to maintain a healthy balance of salt and water so that mucus stays thin and watery. Thin and watery mucus is important for normal functioning of organs such as the lungs, pancreas, liver and intestines.2,4
Most people with cystic fibrosis (CF) are diagnosed as babies. In Australia all newborn babies are screened for CF as a standard.9,12However, this does not happen everywhere. In countries such as Germany and Italy, routine screening happens in some regions but not others, so indicators such as a family history of CF, or a baby’s skin tasting salty, will prompt further investigations.5,6
Cystic fibrosis is a genetic disease, meaning you inherit it from your parents. It is most common in Caucasian populations.7
There are around 3,235 people in Australia living with CF and an estimated 100,000 people worldwide.8,17
People with cystic fibrosis experience a wide variety of symptoms including:10
- Wheezing, shortness of breath and persistent coughing
- Lung infections and lung disease
- Difficulty digesting food
- Poor growth, delayed puberty and slow weight gain
- Salty sweat
We know of over 2,000 different CFTR gene mutations but only 281 of these cause cystic fibrosis, and most of them are extremely rare.11
You can either have two copies of the same CFTR gene mutation, or two different CFTR gene mutations.12
Your CF genotype is the combination of CFTR gene mutations you inherited from your parents. If your CFTR mutations aren’t noted in your medical records, it’s important to find out which mutations you have. This can be done using a genetic test provided by your doctor.12
It is important to know your genotype because this may influence the symptoms you experience and the treatment you have, as some CF treatments are specific to certain CFTR mutations.2
Fat is essential and an important part of a healthy diet.13 People with cystic fibrosis (CF) may need more energy (calories), fat, and protein than other people because their body finds it more difficult to digest and absorb these nutrients from the food they eat.14,15 The exact amount of energy and fat needed varies from person to person, so you should always check with your doctor, nurse, or dietician for CF dietary advice specific to you.16
It is important that you consult your doctor or nurse for specific CF dietary advice as the exact amount of energy and fat needed varies from person to person.15
Everyone with cystic fibrosis (CF) is different. For many people with CF, treatment routines may be complex and time-consuming. Establishing a daily routine, being organised, and planning for any changes to your daily routine will help CF to become a part of your everyday life instead of getting in the way of your everyday life.
Regular physical activity should be a central part of management for everyone living with cystic fibrosis, regardless of age and severity.16 When considering a new activity discuss it with your doctor or nurse first to make sure it is safe and appropriate for you.
Remember to take special care when the weather is hot and humid.
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Orenstein DM. Cystic Fibrosis: A Guide for Patient and Family. 3rd ed. Philadelphia, PA: Lippincott Williams & Wilkins; 2004.
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Derichs N. Targeting a genetic defect: cystic fibrosis transmembrane conductance regulator modulators in cystic fibrosis. Eur Respir Rev. 2013; 22(127): 58–65.
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Wang W, Linsdell P. Conformational change opening the CFTR chloride channel pore coupled to ATP-dependent gating. Biochim Biophys Acta. 2012; 1818(3): 851–860.
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MacDonald K, McKenzie K, Zeitlin P. Cystic fibrosis transmembrane regulator protein mutations: 'class' opportunity for novel drug innovation. Pediatr Drugs. 2007; 9(1): 1–10.
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NHS Choices. Diagnosing cystic fibrosis. Available at: www.nhs.uk/conditions/cystic-fibrosis/pages/diagnosis.aspx.
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Cystic Fibrosis Foundation. Testing for Cystic Fibrosis. Available at: www.cff.org/AboutCF/Testing/.
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World Health Organization. The molecular genetic epidemiology of cystic fibrosis: report of a joint meeting of WHO/ECFTN/ICF(M)A/ECFS; June 19, 2002; Genoa, Italy. World Health Organization; 2004. Available at: www.who.int/genomics/publications/en/HGN_WB_04.02_TOC.pdf.
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Cystic Fibrosis Australia. Cystic Fibrosis in Australia 2014: 17th Annual Report from the Australian Cystic Fibrosis Data Registry. August 2016.
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Cystic Fibrosis Australia. Available at: http://www.cysticfibrosis.org.au/
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O'Sullivan B, Freedman S. Cystic fibrosis. Lancet. 2009; 373(9678): 1891–1904.
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US CF Foundation, Johns Hopkins University, The Hospital for Sick Children. The Clinical and Functional Translation of CFTR (CFTR2). Available at: www.cftr2.org/mutations_history.php.
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Welsh MJ, Ramsey BW, Accurso F, Cutting GR. Cystic fibrosis: membrane transport disorders. In: Valle D, Beaudet A, Vogelstein B et al.eds.The Online Metabolic & Molecular Bases of Inherited Disease.The McGraw-Hill Companies Inc; 2004: part 21, chap 201. Available at: www.ommbid.com.
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European Food Safety Authority (EFSA). EFSA Journal 2010; 8(3): 1461. Available at: www.efsa.europa.eu/en/efsajournal/pub/1461.
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Cystic Fibrosis Trust. Nutrition factsheet: a guide for children and parents. April 2013. Available at: www.cysticfibrosis.org.uk.
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Borowitz D, Baker RD, Stallings V. Consensus report on nutrition for paediatric patients with cystic fibrosis. J Pediatr Gastroenterol Nutr. 2002; 35(3): 246–59.
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Smyth A, et al. European Cystic Fibrosis Society Standards of Care: Best Practice guidelines. J Cyst Fibros. 2014;13:S23–S42.
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https://www.cysticfibrosis.org.uk/what-is-cystic-fibrosis/faqs
