Cystic fibrosis – what you need to know

Posted on 12 June 2015

Cystic fibrosis is one of the most serious – and seriously misunderstood – genetic conditions there is. But what is it, what’s it like living with it, and what are the chances of your child having it?

1. What is it?
Cystic fibrosis (CF) is an inherited condition in which a defective gene affects the cells that produce the body’s sweat, mucus and digestive juices. Usually these fluids are thin and slippery, but in a person who has CF they’re thick and sticky. So instead of acting as a lubricant, those fluids clog up the body’s passageways. The major organs are affected by CF are the lungs and the pancreas.

2. Why’s it called that?
The name cystic fibrosis comes from the cysts (groups of cells that cluster together to form a sac) and fibrosis (excess fibrous tissue) that form in the patient’s pancreas.

3. What causes it?
Genetics. CF is caused by a defective gene that affects your body’s production of a membrane protein called cystic fibrosis transmembrane conductance regulator (CFTR). CFTR controls how your body transports salt (or chloride) into and out of cells. This is where things go wrong for CF patients: CFTR helps to maintain the fluidity of bodily fluids like sweat and mucus. If there’s a problem with the body’s CFTR, there’ll be a problem with those fluids too. That’s why CF patients have thick, sticky mucus and saltier sweat.

4. What does it feel like to have cystic fibrosis?
First, hot days are a challenge. CF affects the epithelial cells in your body’s sweat glands, so on a hot, sweaty day CF patients tend to lose excessive amounts of body salt.
Their thicker mucus causes problems with respiration, so CF patients often suffer from chest infections and shortness of breath. The mucus blocks the passageways of their pancreas (a vital organ that makes hormones and enzymes to help with digestion). This prevents the pancreas from doing its job of sending digestive juices into the intestines. Without those juices, the intestines can’t absorb proteins and fats properly, so those healthy nutrients pass through the body without being used. This can lead to deficiencies in vitamins A, D, E and K (which are all fat-soluble), and can also cause a build-up of intestinal gas – which can lead to a swollen belly and pain in the abdomen.
Those unused nutrients are what help babies to grow, so children with CF (who miss out on those healthy fats and proteins) will often struggle to grow and put on weight. ‘That’s how a diagnosis of cystic fibrosis is often made in early infancy,’ says Dr Ignatius Immink, a physician at Mediclinic George.

5. Can it be treated?
Treated, yes. Cured, no. Not yet, anyway. What makes things difficult for CF patients and their doctors is that cystic fibrosis can be caused by any one of about 1 000 different mutations of the CFTR gene. This makes the search for a cure incredibly complicated.
That’s the bad news. The good news is it can be treated – and it’s no longer the early death sentence it used to be. A century ago, a baby born with CF would be lucky to survive childhood. A generation or so ago, they wouldn’t expect to see their 21st birthday. Today, thanks to improvements in treatments, CF patients can live into their 20s and 30s – with some even living into their 40s.
Because there’s no cure, the focus is on managing the illness. ‘It’s all about prevention,’ says Dr Immink. ‘So you’re looking at regular immunisation against infections, and if an infection does occur, treating that infection as early as possible to prevent it progressing to something more serious, like pneumonia.’
Although CF requires daily care and attention, that hasn’t stopped thousands of people with the disease from going to school and work, and living happy lives.

6. How prevalent is it?
Relatively rare: according to the South African Cystic Fibrosis Association, there are only about 700 people with CF in South Africa at the moment. It’s most common among Caucasians and occurs less frequently among Africans and Asians. However, in the US (where population demographics are different to ours), some studies estimate that about one in every 2 000 children is born with CF. Then again, about one in every 20 people have the defective gene for CF and don’t have the disease. Because it’s a genetic condition, you’re exponentially more likely to have CF if both (or either) of your parents have a family history of it.

The information provided in this article was correct at the time of publishing. At Mediclinic we endeavour to provide our patients and readers with accurate and reliable information, which is why we continually review and update our content. However, due to the dynamic nature of clinical information and medicine, some information may from time to time become outdated prior to revision.

Published in Magazine

In the interest of our patients, in accordance with SA law and our commitment to expertise, Mediclinic cannot subscribe to the practice of online diagnosis. Please consult a medical professional for specific medical advice. If you have any major concerns, please see your doctor for an assessment. If you have any cause for concern, your GP will be able to direct you to the appropriate specialists.

Post a comment

Leave a reply