Cystic fibrosis is an inherited disorder that causes severe damage to the lungs and digestive system.

Cystic fibrosis affects the cells that produce mucus, sweat and digestive juices. These secreted fluids are normally thin and slippery. But in people with cystic fibrosis, a defective gene causes the secretions to become thick and sticky. Instead of acting as a lubricant, the secretions plug up tubes, ducts and passageways, especially in the lungs and pancreas.

Although cystic fibrosis requires daily care, people with the condition are able to attend school and work, and have a better quality of life than in previous decades. Improvements in screening and treatments mean most people with cystic fibrosis now live into their 20s and 30s, and some are living into their 40s and 50s.

Screening of newborns for cystic fibrosis is now performed in all 50 states. As a result, the condition can be diagnosed within the first month of life, before symptoms develop. For people born before newborn screening was performed, it's important to be aware of the signs and symptoms of cystic fibrosis.

Cystic fibrosis signs and symptoms vary, depending on the severity of the disease. Even in the same person, symptoms may worsen or improve as time passes. Some people may not experience symptoms until adolescence or adulthood.

People with cystic fibrosis have a higher than normal level of salt in their sweat. Parents often can taste the salt when they kiss their children. Most of the other signs and symptoms of cystic fibrosis affect the respiratory system or the digestive system. However, adults with cystic fibrosis are more likely to have atypical symptoms, such as pancreatitis, diabetes and infertility.

Respiratory signs and symptoms

The thick and sticky mucus associated with cystic fibrosis clogs the tubes that carry air in and out of your lungs. This can cause:

• A persistent cough that produces thick (sputum) mucus
• Wheezing
• Breathlessness
• Exercise intolerance
• Repeated lung infections
• Inflamed nasal passages or a stuffy nose

Digestive signs and symptoms

The thick mucus can also block tubes that carry digestive enzymes from your pancreas to your small intestine. Without these digestive enzymes, your intestines can't fully absorb the nutrients in the food you eat. The result is often:

• Foul-smelling, greasy stools
• Poor weight gain and growth
• Intestinal blockage, particularly in newborns (meconium ileus)
• Severe constipation

Frequent straining while passing stool can cause part of the rectum — the end of the large intestine — to protrude outside the anus (rectal prolapse). When this occurs in children, it may be a sign of cystic fibrosis. Parents should consult a physician knowledgeable about cystic fibrosis. Rectal prolapse in children may require surgery.

When to see a doctor

If you or your child has symptoms of cystic fibrosis — or if someone in your family has cystic fibrosis — talk with your doctor about testing for the disease.

Seek immediate medical care if you or your child has difficulty breathing.

Symptoms of cystic fibrosis

Symptoms of cystic fibrosis tend to start in early childhood, although they can sometimes develop very soon after birth, or may not be obvious until adulthood.

Some of the main symptoms of cystic fibrosis can include:

• recurring chest infections
• difficulty putting on weight
• frequent, wet-sounding coughs
• diarrhoea
• occasional wheezing and shortness of breath

People with the condition can also develop a number of related conditions, including diabetes, thin, weakened bones (osteoporosis) and liver problems.

Read more about the symptoms of cystic fibrosis.

Causes of cystic fibrosis

Cystic fibrosis is caused by a faulty gene that a child inherits from both of their parents.

The faulty gene means that some cells struggle to move salt and water across the cell wall. This, along with recurrent infections, can result in a build-up of thick, sticky mucus in the body's tubes and passageways.

To be born with cystic fibrosis, a child has to inherit two copies of this faulty gene – one from each of their parents. Their parents will not usually have the condition themselves, because they will only carry one faulty gene and one that works normally.

If both parents carry the faulty gene, there's a 25% chance that each child they have will be born with cystic fibrosis.

Read more about the causes of cystic fibrosis.

Screening and testing for cystic fibrosis

Most cases of cystic fibrosis are now detected soon after birth through the newborn blood spot test.

This involves collecting a drop of blood from the baby's heel and testing it for abnormalities that could indicate cystic fibrosis.

More tests will be needed to confirm the diagnosis, such as:

• a sweat test – to measure the amount of salt in sweat, as the sweat of someone with cystic fibrosis has higher levels of salt than normal
• a genetic test – where a sample of blood or saliva is checked for the faulty gene that causes cystic fibrosis

These tests can also be carried out in older children and adults with symptoms of cystic fibrosis who haven't been screened previously.

If you have a family history of cystic fibrosis, you can be tested to determine if you're at risk of having a child with the condition by checking if you're a "carrier" of the faulty gene that causes it.

Cystic Fibrosis

What Is Cystic Fibrosis?

Cystic fibrosis is a disease that changes how your body makes mucus and sweat. It affects how well your lungs, digestive system, and some other body parts work. It’s caused by a flawed gene.

If you have cystic fibrosis, you may have mucus that’s too thick or sweat that’s too salty. If heavy mucus clogs your lungs, it’s hard to breathe. It can also block your pancreas, an organ in your belly, so you can’t digest your food as well. The disease may make you sweat away too much of the salt your body needs to work well.

Most people diagnosed with cystic fibrosis today are babies, thanks tonewborn screening programs. More than 75% of children with cystic fibrosis get a diagnosis by age 2. In some cases, people don’t find out they have cystic fibrosis until they’re teens or adults. Parents can also test their babies for cystic fibrosis before they’re born.

Cystic fibrosis is a serious disease that can be life-threatening. But it’s different for everyone. Symptoms are mild for some people and severe for others. The good news is that most people with cystic fibrosis now live twice as long as they did 30 years ago. 

Causes

Everyone has a gene called CTFR, which makes a protein that controls how salt and water move in and out of the body’s cells. If you have cystic fibrosis, your CTFR gene is broken. That’s because you inherited two bad copies of the gene, one from each parent. If someone has only one copy, they won't get cystic fibrosis, but they could pass the gene on to their children.

A bad CFTR gene can cause your cells to make the wrong amount of salt or water. That’s what makes your mucus too thick or your sweat too salty. It becomes a problem when your body can’t get the oxygen or nutrients it needs, or it loses them through sweat.

Scientists have found more than 1,000 different types of changes, called mutations, to the CFTR gene in people with cystic fibrosis. About 70% of people with cystic fibrosis have the most common one, called Delta F508.

The different gene mutations can make a difference in the symptoms you have. As doctors learn more about the mutations, they are looking for specific treatments for each one.

Symptoms

Babies can show signs of cystic fibrosis soon after birth. Some of the first ones you might notice could be:

·         Your baby’s skin tastes salty when you kiss it.

·         She doesn’t poop when she’s first born.

All U.S. states screen newborns for cystic fibrosis, so if your child has it, you’ll most likely find out right away. As your child gets older, his symptoms could include:

·         Coughing up thick mucus

·         Wheezing or shortness of breath

·         Getting sinus infections, bronchitis, or pneumonia often

·         Growths, called polyps, in the nose

·         Bulky, oily, or foul-smelling stool

·         Too much gas, constipation, or stomach pain

·         Weight loss or failure to gain weight

·         Low bone density

·         Wide, rounded fingertips and toes, called clubbing

Sometimes symptoms don’t appear until the teen or adult years. A late diagnosis may mean you have a more mild case of cystic fibrosis. Most people’s symptoms will get worse over time.

Later in life, cystic fibrosis can also cause pancreatitis, liver disease, orgallstones. Many people will get cystic fibrosis-related diabetes as they get older. The disease is similar to type 1 and type 2 diabetes, but it’s not exactly the same. People can manage it by watching their blood sugarand taking insulin, a medicine that helps the body use sugar.

Getting a Diagnosis

It’s important to diagnose cystic fibrosis early so you can treat symptoms and avoid problems. If your child has cystic fibrosis, you may find out soon after or even before he’s born.

When your baby is born: A few hours after birth, hospital staff take a sample of your baby’s blood, usually from his foot. Sometimes scientists check it for broken CTFR genes. Other times, they look for signs that the baby’spancreas is working well.

Because there are so many different gene flaws that cause cystic fibrosis, the newborn screening test may not find the disease in everyone who has it.

If the screening test finds cystic fibrosis, that doesn’t always mean your baby has the disease. Your doctor will find out for sure by measuring how much salt is in his sweat. A high level means he has cystic fibrosis.

As your baby grows up: Doctors also use the sweat test to check older children and adults who have symptoms but weren’t diagnosed as babies. They may use other tests as well, including:

·         Chest X-ray. It uses low doses of radiation to make a picture of the inside of your child’s body.

·         Lung function tests . They measure how much air your child can breathe in and out, and how fast. They also check the levels of oxygen in your child’s blood. These tests can include:

·         Spirometry. Your child will breathe out as hard as he can into a tube attached to machine that records his breath.

·         Lung volume measurement. Your child will sit in a glass booth and breathe in and out through a tube. The booth senses changes in pressure that tell doctors how much air he’s breathing into his lungs.

·         Pulse oximetry. Doctors will clip a small sensor to your child’s fingertip to measure the amount of oxygen in his blood.

·         Mucus test. Doctors look for a certain kind of bacteria that’s common in severe cystic fibrosis.

Along with testing, your doctor may also ask you questions about your child’s symptoms, including:

·         Does he have trouble breathing?

·         How often does he have trouble with digestion?

·         When was the last time he had a sinus infection, bronchitis, or pneumonia?

·         Has anyone in your family been diagnosed with cystic fibrosis?

·         Does he have any other medical conditions?

Questions for Your Doctor:

If your child is diagnosed with cystic fibrosis, you’ll want to find out as much about the condition as you can. You may want to ask:

·         Does my child need any more tests?

·         Do we need to see any other doctors?

·         What kind of gene mutations caused his cystic fibrosis?

·         What kind of treatments are there?

·         How will those treatments make him feel?

·         How can I keep him from having trouble breathing?

·         How can I keep him from getting lung infections?

·         How can I make sure he gets enough nutrients from his food?

·         Do my other children need to get tested?