Table of ContentsView AllTable of ContentsGeneticsPhysiologyDisease ProgressionFrequently Asked QuestionsNext in Cystic Fibrosis GuideHow Cystic Fibrosis Is Treated
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Table of Contents
Genetics
Physiology
Disease Progression
Frequently Asked Questions
Next in Cystic Fibrosis Guide
Cystic fibrosisis an inheritable and life-threatening disorder that affects roughly 30,000 Americans and as many as 70,000 people worldwide.
There are at least 1,700 or more known CFTR mutations.In order for you to have cystic fibrosis, you need to have inherited two copies of the CFTR mutation, one from each parent.While advances in diagnosis and treatment have increased the life expectancy of people living with the disease, there is still no cure.
Cystic fibrosis (CF) is anautosomal recessive disorder. This is the type of disease you can only inherit if both of your parents contribute a single copy of a recessive gene (in this case, the CFTR mutation).
With regards to CF, you can inherit the disease if each of your parents is a carrier of the CFTR mutation. Unfortunately, there is nothing a parent can do to influence the odds of inheritance one way or the other.
Risk of Inheriting Cystic FibrosisIf both parents are carriers of the CFTR gene mutation, you would have a:25% chance of inheriting two copies and having CF50% chance of inheriting one copy and being a carrier25% chance of inheriting no mutations and being unaffected
Risk of Inheriting Cystic Fibrosis
If both parents are carriers of the CFTR gene mutation, you would have a:25% chance of inheriting two copies and having CF50% chance of inheriting one copy and being a carrier25% chance of inheriting no mutations and being unaffected
If both parents are carriers of the CFTR gene mutation, you would have a:
Cystic Fibrosis Carrier Testing
Race and Ethnicity
More than 10 million Americans have a CFTR mutationand as many as 2,500 babies are born with cystic fibrosis each year.
The actual rate of babies born with CF is around:
The country with the highest rate of babies born with CF is Ireland, in which one of every 1,353 newborns are affected, according to a 2017 epidemiological study published in theBiomedical and Biotechnology Research Journal.
Types of CFTR Mutations
The role of the CFTR protein is to control the movement of water and salt in and out of cells. By doing so, it helps regulate the production of mucus, sweat, saliva,tears, and digestive enzymes. Based on how defective the protein is, these systems can malfunction in often serious ways.
The classes of CFTR mutations can be broadly described as follows:
You can best understand how CFTR defects cause cystic fibrosis, you need to look closer at systems that the protein is meant to regulate.
With cystic fibrosis, the CFTR protein functions abnormally. Rather than moving water in and out of cells, the water becomes trapped, causing mucus outside of the cell to thicken and accumulate.
This accumulation will interfere with the normal function of organs in different ways:
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The only risk factor for getting CF is having two parents who carry abnormal CFTR genes. That said, there are factors that can influence the severity and progression of the disease.
Chief among these is the timing of diagnosis and treatment. Newborn screening is considered vital as it allows immediate treatment of the disease. Doing so can slow or prevent the damage that can occur in early childhood.
Among the risk factors linked to poorer outcomes:
Frequently Asked QuestionsYou have two copies of the CFTR gene with one coming from each parent. If both parents pass on a mutation of the CFTR gene, you may inherit cystic fibrosis.Parents can pass on the mutation if they have the disease themselves or if they’re just carriers of the mutation (with nosymptoms).If a person inherits two copies of the CFTR mutation, then it’s not possible to prevent cystic fibrosis (CF). However, withgenetic screening, potential parents can determine their risk for passing on CF and make a decision about whether or not to have a child. Also, a person born with CF can take steps to manage the condition and prevent serious complications such ascor pulmonale.
You have two copies of the CFTR gene with one coming from each parent. If both parents pass on a mutation of the CFTR gene, you may inherit cystic fibrosis.Parents can pass on the mutation if they have the disease themselves or if they’re just carriers of the mutation (with nosymptoms).
If a person inherits two copies of the CFTR mutation, then it’s not possible to prevent cystic fibrosis (CF). However, withgenetic screening, potential parents can determine their risk for passing on CF and make a decision about whether or not to have a child. Also, a person born with CF can take steps to manage the condition and prevent serious complications such ascor pulmonale.
28 Sources
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Cystic Fibrosis Foundation.About cystic fibrosis.
Cystic Fibrosis Foundation.Types of CFTR mutations.
University of California San Francisco.FAQ: Carrier testing for cystic fibrosis.
MedlinePlus.Autosomal recessive.
National Human Genome Research Institute.Recessive traits and alleles.
Cystic Fibrosis Foundation.CF genetics: The basics.
Cystic Fibrosis Foundation.Carrier testing for cystic fibrosis.
National Heart Lung, and Blood Institute.Facts about cystic fibrosis.
Zvereff VV, Faruki H, Edwards M, Friedman KJ.Cystic fibrosis carrier screening in a North American population.Genetics in Medicine. 2014;16(7):539-546. doi:10.1038/gim.2013.188
Mirtajani S, Farnia P, Hassanzad M, Ghanavi J, Farnia P, Velayati A.Geographical distribution of cystic fibrosis: The past 70 years of data analysis.Biomed Biotech Res J.2017;1(2):105-12. doi:10.4103/bbrj.bbrj_81_17
Veit G, Avramescu RG, Chiang AN, et al.From CFTR biology toward combinatorial pharmacotherapy: Expanded classification of cystic fibrosis mutations. Drubin DG, ed.MBoC. 2016;27(3):424-433. doi:10.1091/mbc.E14-04-0935
Marson FAL.Disease-modifying genetic factors in cystic fibrosis.Curr Opin Pulm Med. 2018;24(3):296-308. doi:10.1097/MCP.0000000000000479
MedlinePlus.CFTR gene.
Cystic Fibrosis Foundation.Basics of the CFTR protein.
American Lung Association.Cystic fibrosis (CF).
Johns Hopkins Medicine.Cystic fibrosis.
Kobelska-Dubiel N, Klincewicz B, Cichy W.Liver disease in cystic fibrosis.Prz Gastroenterol.2014;3:136-141. doi:10.5114/pg.2014.43574
Cystic Fibrosis Foundation.Fertility.
Cystic Fibrosis Foundation.Cystic fibrosis-related diabetes.
Cystic Fibrosis Foundation.Newborn screening for CF.
Bush A, Sly P.Evolution of cystic fibrosis lung function in the early years.Curr Opin Pulm Med.2015;21(6):602-8. doi:10.1097/MCP.0000000000000209
Cystic Fibrosis Foundation Patient Registry.2019 Annual Data Report. 2020.
Sanders B, Li Z, Laxova A, et al.Risk factors for the progression of cystic fibrosis lung disease throughout childhood.Ann Am Thorac Soc.2014;11(1):63-72. doi:10.1513/AnnalsATS.201309-303OC
Smyth R, Rosenfeld M.Prophylactic anti-staphylococcal antibiotics for cystic fibrosis.Cochrane Database Syst Rev.2017 Apr; 2017(4): CD001912. doi:10.1002/14651858.CD001912.pub4
Malhotra S, Hayes Jr. D, Wozniak DJ. American Society for Microbiology.
Maléth J, Balázs A, Pallagi P, et al.Alcohol disrupts levels and function of the cystic fibrosis transmembrane conductance regulator to promote the development of pancreatitis. 2014;148(2):427-9. doi:10.1053/j.gastro.2014.11.002
American Lung Association.Treating and managing cystic fibrosis.
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