Cystic fibrosis (CF) is a genetic disorder that causes severe damage to the lungs, digestive system, and other organs in the body. This chronic condition generally affects cells that produce mucus, sweat, and digestive juices. Instead of acting as natural lubricants, they become incredibly thick and sticky, thus creating a blockage in the tubes, ducts, and passageways, especially in the lungs and pancreas.
Cystic fibrosis symptoms
Cystic fibrosis symptoms can be found in the form of respiratory or digestive symptoms.
- Respiratory symptoms
Cystic fibrosis clogs the tubes that carry air in and out of your lungs. This can cause signs and symptoms such as:
- A persistent cough that produces thick mucus (sputum)
- Exercise intolerance
- Repeated lung infections
- Inflamed nasal passages or a stuffy nose
- Recurrent sinusitis
Digestive signs and symptoms
Symptoms can also cause the thick mucous to clog tubes that carry digestive enzymes from the pancreas to the small intestine. Without these digestive enzymes, the intestines cannot completely absorb the nutrients in the food being consumed. This may lead to the following:
- Foul-smelling, greasy stools
- Poor weight gain and growth
- Intestinal blockage, particularly in newborns (meconium ileus)
- Chronic or severe constipation, which may include frequent straining while trying to pass stool, eventually causing part of the rectum to protrude outside the anus (rectal prolapse)
Cystic fibrosis causes
CS is mainly caused by a mutation in the CFTR gene, which plays the role of a transmembrane conductance regulator. The mutation of this gene — changes a protein that regulates the movement of salt in and out of cells. The result is thick, sticky mucus in the respiratory, digestive, and reproductive systems and increased salt in sweat.
A new breakthrough in cystic fibrosis causes has been reported in the Science Daily by the research team from the College of Medicine, University of Saskatchewan (USask) led by Drs. Juan Ianowski (Ph.D.) and Julian Tam (MD). It has been found that sodium transport is abnormal in the lungs with CF, which was confirmed by excessive sodium absorption observed in the small airways. Modern scientists and medical experts have cited that this is instrumental in finding a potential cure to CF with the help of gene therapy.
Cystic fibrosis treatment
Cystic fibrosis treatment includes medications for thinning mucous, enzyme regulators to facilitate digestion, antibiotics to prevent and treat pulmonary and digestive infections, inhalers and bronchodilators, stool softeners, acid regulators, pancreatic or liver disorder medications, etc. In addition, cystic fibrosis gene therapy involves medicines that target gene mutations, including a combination of three drugs to treat the most common genetic mutation causing CF, which is considered a significant achievement in treatment.
The department of Ann & Robert H. Lurie Children’s Hospital, Chicago, has reported a significant finding pertaining to early detection of Cystic Fibrosis in children. Researchers evaluated clinical data and bronchoalveolar lavage fluid samples from 191 participants up to the age of 21 years. The airway samples of children affected by CF were compared with disease controls across the age spectrum with the help of genetic sequencing to identify microorganisms. It has been found that there are common CF pathogens that begin to dominate at very early ages. This proves essential for early detection of cystic fibrosis causes, which can aid in timely treatment.
When to seek a second opinion
CF requires regular follow-up with specialists, such as pulmonologists, gastroenterologists, endocrinologists, paediatricians, etc., at least every three months. By searching for a pulmonologist near me or the Best Gastroenterologists in India, you can get in touch with accomplished medical experts knowledgeable about CF. If you or anyone you know has symptoms of cystic fibrosis and experience new or worsening symptoms, such as more mucus than usual or a change in the mucus colour, lack of energy, weight loss, or severe constipation, it is time to seek a second opinion. At SeekMed, you get easy access to super-specialists from the convenience and safety of your home. If you or anyone you know is coughing up blood, having chest pain or difficulty breathing, or having severe stomach pain and distention, simply search online for a pulmonologist near me or the Best Gastroenterologists in India to avail affordable quality care.