Can You Have Cystic Fibrosis And Not Know It

Can You Have Cystic Fibrosis And Not Know It – Cystic fibrosis (CF) is a genetic disorder that changes the salt and water balance in the body. It affects multiple organs, especially the lungs and digestive system.

More than 10 million people in the US carry a gene variant that causes cystic fibrosis, but most don’t know it Early diagnosis leads to better outcomes, so cystic fibrosis is screened for most newborn genetic screening panels. prevent lung damage and improve nutrition, and lead to a much longer and healthier life.

Can You Have Cystic Fibrosis And Not Know It

The CFTR protein helps maintain a healthy mucus layer along the inside of certain organs. Without active CFTR protein, the mucus becomes thick and sticky.

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The gene affected in cystic fibrosis is CFTR (cystic fibrosis membrane conductance regulator) on chromosome 7. The gene codes for the CFTR protein. People with cystic fibrosis have two non-working copies (alleles) of the gene, so they make little or no CFTR protein.

The CFTR protein’s job is to help maintain a healthy balance of salt and water. It does this by moving chloride ions (from chloride, or salt) out of the cells. This process is key to maintaining a healthy layer of mucus inside the lungs, digestive system and other organs.

People with cystic fibrosis inherit two non-working copies (alleles) of the CFTR gene: one from each parent. Without the CFTR protein, cells cannot properly balance salt and water. The normally thin fluids lining certain organs become thick and sticky, leading to the effects of cystic fibrosis.

From the perspective of the genetic disorder, cystic fibrosis follows an autosomal recessive pattern of inheritance. Two non-functional alleles are required to cause the disorder.

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From the standpoint of the resulting CFTR protein, both human CFTR alleles are dominant. Protein is made from both.

The CFTR gene is switched off in most cell types. It works at high levels in the cells that line the lungs and digestive organs, especially the gall bladder, pancreas and intestines. The CFTR gene works at lower levels in the cells that line some reproductive organs in men and women, and in the sweat glands in the skin.

The cells that produce the CFTR protein create a barrier between the body and the spaces inside it. In the lungs, this space holds air; In the pancreas and gall bladder, it holds digestive juices; In the small intestine it contains food that is digested.

The CFTR protein sits in the plasma membrane of the cells that create it, and creates a connection between the inside of the cells and the outside space.

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A healthy CFTR protein transports chloride ions between the inside of the cell and the space around it. Its role is to maintain salt and water balance. This balance is the key to maintaining a healthy mucus layer between the body and the outside world.

In the lungs, mucus traps debris – things like dust, bacteria and viruses. Celia flaps back and forth to carry this waste back out of the body. In the pancreas and gall bladder, the correct 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 the sweat glands, it helps to reabsorb salt from the sweat.

When the CFTR protein is not working, salt and water are out of balance. The mucus layer in the lungs is thick and sticky. Chloride is not reabsorbed from sweat, making it very salty. Mucus can clog the pancreas, making the digestive juices too thick to flow. Thick fluids similarly affect other organs, preventing them from functioning properly. All 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 mild to severe spectrum, 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 their lungs, which causes coughing and wheezing from a young age. Because phlegm traps bacteria, people with cystic fibrosis are prone to one lung infection after another. These can lead to pneumonia or bronchitis. Before treatments were available, these infections were often fatal.

In the digestive system, thick mucus can prevent the absorption of nutrients from food. Left untreated, it can cause low weight, slow growth and fatty stools.

Problems in regulating salts in sweat can lead to dehydration and salt imbalance. Extremely salty skin is a defining feature of cystic fibrosis. In fact, a sweat test – which measures chloride levels on the skin – is the most common way to diagnose cystic fibrosis.

Most men with cystic fibrosis have low fertility. In addition, there are alleles of the CFTR gene that affect male fertility but do not cause cystic fibrosis.

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A sweat test measures the amount of chloride on a person’s skin. Alleles are often grouped into categories based on how efficiently the proteins they code for work; Each category contains multiple alleles. CFTR proteins that can move less chloride tend to lead to milder cystic fibrosis symptoms. Those who cannot move chloride at all usually cause more severe symptoms.

People with cystic fibrosis have two non-functioning CFTR alleles. They may have two copies of the same allele, or two different alleles. There are many alleles of CFTR that can cause cystic fibrosis, and each one codes for a protein that works slightly differently. These differences in protein function are part of the reason that the effects of cystic fibrosis vary.

Some alleles of CFTR do not produce CFTR protein at all. There is a code for the CFTR protein that never reaches the cell membrane, so it can’t do its job. Other alleles code for CFTR proteins that reach the cell membrane, but do not work well.

The amount of CFTR protein a person makes, and how well this protein can move chloride, affects a person’s symptoms. People who can’t move chloride at all tend to get sick, while people who can move a little chloride tend to have fewer symptoms. Those with only one healthy CFTR allele have near-normal levels of CFTR protein function, and no symptoms of cystic fibrosis.

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The graph shows the amount of chloride in the skin of people with different CFTR allele combinations. This test can assess how well a person’s CFTR proteins are working. However, this does not always predict how severe their symptoms will be. The protein may work better or worse in other tissues. Other factors also come into play (see below).

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 do his job at all.

Between any two people with cystic fibrosis, there are differences in the details. even when they have the same CFTR alleles. Symptoms often appear before the baby is a year old, but not always. People vary in terms of which organs are affected, and the severity of the symptoms. Symptoms change over time – 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 additional genes that affect how the lungs or pancreas work. Many genes influence the extent of the immune system’s response to infection. Other genes are needed to repair damaged tissue. Changes in these genes can make cystic fibrosis better or worse.

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Environmental factors can also cause differences in symptoms. Air pollution and cigarette smoke can worsen lung symptoms. Good nutrition and access to healthcare can help people stay healthier.

To manage their health, people with cystic fibrosis use a combination of lifestyle behaviors and medical methods. Most of these methods are aimed at preventing lung damage and improving nutrition. And it’s the new medical treatments that make the biggest difference. Although treatment routines can take hours each day, they help people with cystic fibrosis live longer and healthier lives. Fifty years ago, babies in the United States diagnosed with cystic fibrosis rarely survived to adulthood, and today, people can expect to live into their late 40s and beyond.

Cystic fibrosis is a potential target for gene therapy, where a modified virus gives the patient’s cells a working copy of the CFTR gene. Cystic fibrosis is also a candidate for gene editing, where the disease-causing change in the CFTR gene is corrected.

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Driches, N. (2013). Targeting a genetic defect: a cystic fibrosis transmembrane conductance regulator. European Respiratory Review, 22(127), 58-65.

Lazarin, G. A., Haque, I. S., Nazareth, S., Iori, K., Patterson, A. S., Jacobson, J. L., … & Srinivasan, B. S. (2013). Empirical estimation of carrier frequencies for more than 400 causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals. Genetics in Medicine, 15(3), 178.

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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