How Long Do People With Cf Live – Cystic fibrosis (CF) is a genetic disease that changes the salt and water balance in the body. It affects various organs, especially the lungs and digestive system.
More than 10 million people in the US carry the gene variant that causes cystic fibrosis, but most don’t know it. Early diagnosis leads to better outcomes, so cystic fibrosis is screened for in most newborn genetic screening panels. Starting treatment right away can prevent lung damage and improve nutrition, leading to a longer, healthier life.
How Long Do People With Cf Live
The CFTR protein helps maintain a healthy mucus layer on the inside of certain organs. Without a functioning CFTR protein, the mucus becomes thick and sticky.
Living With Cystic Fibrosis
The gene affected in cystic fibrosis is CFTR (cystic fibrosis transmembrane conductance regulator) on chromosome 7. The gene codes for the CFTR protein. People with cystic fibrosis have two copies (alleles) of the gene that do not work and therefore produce little or no CFTR protein.
The CFTR protein’s job is to maintain a healthy salt and water balance. It does this by moving chloride ions (from sodium chloride or salt) out of the cell. This process is key to maintaining a healthy mucus layer in the lungs, digestive tract and other organs.
People with cystic fibrosis inherit two non-functioning copies (alleles) of the CFTR gene: one from each parent. Without the CFTR protein, cells cannot balance salt and water properly. Normally, the thin fluid that covers certain organs becomes thick and sticky, leading to the effects of cystic fibrosis.
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In terms of the presence of genetic disease, cystic fibrosis follows an autosomal recessive inheritance pattern. Two nonfunctional alleles are required to cause the disorder.
In terms of the CFTR protein made, the two individual CFTR alleles are dominant. Proteins are produced by both.
The CFTR gene is turned off in most cell types. It is in high levels in the cells lining the lungs and digestive organs, especially the gallbladder, pancreas and intestines. The CFTR gene is turned on at lower levels in cells that line certain reproductive organs in men and women and in sweat glands in the skin.
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The cells that make the CFTR protein form a barrier between the body and the space inside. In the lungs, these spaces contain air; in the pancreas and gall bladder it preserves digestive juices; in the small intestine it contains digested food.
The CFTR protein is found in the plasma membrane of cells making it the link between the inside of the cell and the outside space.
A healthy CFTR protein moves chloride ions between the inside of the cell and the space that surrounds it. Its job is to maintain the balance of salt and water. This balance is key to maintaining a healthy mucus layer between the body and the outside world.
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In the lungs, mucus traps debris—things like dust, bacteria, and viruses. Cilia flap back and forth to carry this debris out of the body. In the pancreas and gallbladder, a proper balance of salt and water helps keep digestive juices flowing. The CFTR protein also maintains water and salt balance in the intestines and liver. In sweat glands, it helps to reabsorb salt from sweat.
When the CFTR protein malfunctions, salt and water become unbalanced. The mucus layer in the lungs is thick and sticky. Chloride is not reabsorbed by sweat, making it very salty. Mucus can clog the pancreas, making digestive juices too thick to flow. The concentrated fluid also affects other organs, preventing them from functioning properly. All of these effects lead to the symptoms and characteristics of cystic fibrosis.
The effects of cystic fibrosis can vary greatly from person to person. They fall on a spectrum from mild to severe and can involve one or more organ systems.
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Babies born with cystic fibrosis are often small. Most of them have thick mucus in the lungs that causes coughing and wheezing since childhood. Because mucus traps bacteria, people with cystic fibrosis tend to get lung infections one after another. They can cause pneumonia or bronchitis. Before there was a cure, these infections were often fatal.
In the digestive system, thick mucus can interfere with the absorption of nutrients from food. Without treatment, this can lead to low weight, slow growth and greasy stools.
Problems with the regulation of salt in sweat can lead to dehydration and salt imbalance. Very salty skin is the defining characteristic of cystic fibrosis. In fact, a sweat test that measures chloride levels in the skin is the most common way to diagnose cystic fibrosis.
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Most men with cystic fibrosis have low fertility. Additionally, there is an allele of the CFTR gene that affects male fertility but does not cause cystic fibrosis.
A sweat test measures the amount of chloride in a person’s skin. Alleles are often grouped into categories based on how well the protein they encode functions; each category includes multiple alleles. The CFTR protein, which can mobilize a certain amount of chloride, leads to milder cystic fibrosis symptoms. Those who cannot mobilize chloride at all usually cause more severe symptoms.
People with cystic fibrosis have two non-functioning alleles of CFTR. They can have two copies of the same allele or two different alleles. There are many CFTR alleles that can cause cystic fibrosis, and each encodes a protein that functions slightly differently. Differences in the function of these proteins are part of the reason why the effects of cystic fibrosis vary.
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Some CFTR alleles do not produce CFTR protein at all. Some code for the CFTR protein that never reaches the cell membrane so it can’t do its job. Another allele codes for a CFTR protein that reaches the cell membrane, but it doesn’t work properly.
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The amount of CFTR protein a person produces and how well that protein can mobilize chloride affects a person’s symptoms. People who can’t excrete chloride at all are sicker, while people who can excrete some chloride have fewer symptoms. Those with only one healthy CFTR allele have near-normal levels of CFTR protein function and no symptoms of cystic fibrosis.
The graph shows the amount of chloride in the skin of people with different combinations of CFTR alleles. This test can assess how well a person’s CFTR protein is working. However, it does not always predict how severe their symptoms will be. Proteins may function better or worse in other tissues. Other factors also play a role (see below).
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About 70% of people with cystic fibrosis have a CFTR allele known as F508del. This allele codes for a protein that never reaches the cell’s plasma membrane. He can’t work at all.
There are subtle differences between any two people with cystic fibrosis. Even if they have the same CFTR allele. Symptoms often appear before the baby is a year old, but not always. People differ in which organs are affected and in the severity of symptoms. Symptoms change over time – most often getting worse with age. However, this can happen at different rates.
Some of these differences are due to variations in other genes. For example, there are other genes that affect how the lungs or pancreas work. Many genes influence how well the immune system responds to infection. Other genes are needed to repair damaged tissue. Variations in these genes can make cystic fibrosis better or worse.
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Environmental factors can also cause differences in symptoms. Polluted air and cigarette smoke can worsen lung symptoms. Good nutrition and access to health care can help people stay healthy.
To manage their health, people with cystic fibrosis use a combination of lifestyle and medical approaches. Most of these approaches aim to prevent lung damage and improve nutrition. And newer medical treatments are making the biggest difference. Although treatment procedures can take hours each day, they help people with cystic fibrosis live longer and healthier lives. Fifty years ago, babies in the US diagnosed with cystic fibrosis rarely survived to adulthood. Today, people can expect to live into their late 40s and beyond.
Cystic fibrosis is a potential target for gene therapy, in which a modified virus delivers a functional copy of the CFTR gene into the patient’s cells. Cystic fibrosis is also a candidate for gene editing, where disease-causing changes in the CFTR gene are corrected.
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Brennan, M. L., & Shriver, I. (2016). Cystic fibrosis: a review of relevant phenotypes, use of molecular diagnostic approaches, genetic features, progress and dilemmas. Journal of Molecular Diagnostics, 18(1), 3-14.
Derichs, N. (2013). Targeting genetic defects: modulators of the cystic fibrosis transmembrane conductance regulator. European Respiratory Review, 22 (127), 58-65.
Lazarin, G.A., Haque, I.S., Nazareth, S., Yori, K., Patterson, A.S., Jacobson, J. L., … and Srinivasan, B. S. (2013). Empirical estimates of carrier frequencies for 400+ causal Mendelian variants: results from a multiethnic clinical sample of 23,453 individuals. Genetics in Medicine, 15(3), 178.
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Welsh, M.J., & Smith, A.E. (1993). Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis. Cell, 73(7), 1251-1254.
Cystic fibrosis [Internet]. Salt Lake City (UT): Genetic Science Center;
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