Pulmonology focuses on diagnosing and treating lung and airway conditions such as asthma, COPD, and pneumonia, as well as overall respiratory health.
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Cystic fibrosis is one of the most complex genetic disorders in modern medicine. It was once called mucoviscidosis because of the thickened body secretions it causes. This life-shortening, autosomal recessive disease mainly affects the lungs and digestive system, but it can impact almost every organ. The condition results from mutations in a single gene on chromosome 7 that encodes the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) protein. Normally, this protein helps control the movement of chloride ions and water across cell membranes. When the protein is dysfunctional or missing, the balance of salt and water is disrupted. This causes secretions to become thick and sticky, leading to mucus that clings to tissues rather than moving easily. The thick mucus blocks ducts and airways, leading to blockages, infections, and inflammation. At Liv Hospital, we see cystic fibrosis as more than a genetic disorder; it is a condition that affects the whole body and needs a lifelong, comprehensive management plan.
Understanding cystic fibrosis requires looking at the CFTR protein on a molecular level. This protein belongs to the ATP-binding cassette transporter family and acts as a chloride channel controlled by cAMP. It has two membrane-spanning domains that form the channel, two nucleotide-binding domains that use ATP to open and close the channel, and a special regulatory domain.
In healthy cells, the CFTR channel lets chloride ions leave the cell and move into the airway or duct. Sodium ions follow to keep the balance, and water follows the salt. This keeps the Airway Surface Liquid (ASL) layer hydrated, which is important for the cilia to work. In cystic fibrosis, chloride cannot move out, so sodium and water stay in the cell. This dries out the ASL, and the mucus above it collapses onto the cilia. The cilia, which usually move to clear debris, get stuck in the thick, dry mucus. This problem with clearing mucus is the main reason for chronic lung disease in cystic fibrosis.
The severity of cystic fibrosis and how it appears depend on the specific genetic mutation a person has. There are more than 2,000 known mutations in the CFTR gene. Researchers group these mutations into six classes based on how they affect the protein’s production or function.
Although lung problems are the most serious, cystic fibrosis affects all exocrine glands throughout the body.
In the pancreas, the faulty CFTR protein causes secretions to become dry and acidic, blocking the pancreatic ducts. This stops digestive enzymes like lipase, protease, and amylase from reaching the small intestine. Without these enzymes, the body cannot digest food or absorb important nutrients, which leads to malnutrition. The trapped enzymes can also start to break down the pancreas itself, causing inflammation, scarring, and eventually, fatty changes in the organ.
The liver is affected in a similar way. Thick bile can block the small bile ducts inside the liver, causing bile to build up (cholestasis). Over time, this can lead to scarring in parts of the liver (focal biliary cirrhosis), which disrupts blood flow and may cause high pressure in the portal vein and enlarged veins (varices).
Cystic fibrosis also affects the reproductive system. In males, the ducts that become the vas deferens and epididymis need working CFTR during development. If these ducts are blocked or break down, it leads to Congenital Bilateral Absence of the Vas Deferens (CBAVD), causing infertility even though sperm production is normal. In females, the reproductive organs are usually normal, but the cervical mucus is thicker and drier, which can make it harder for sperm to enter. Still, most women with CF have nearly normal fertility rates.
Cystic fibrosis is the most common deadly genetic disease among Caucasians, affecting about 1 in 3,000 newborns. It also occurs in other groups, though less often, about 1 in 17,000 African Americans and 1 in 31,000 Asian Americans, but these numbers may be underestimated. About 1 in 25 people of Northern European descent carry a CFTR mutation. The disease affects males and females equally, but in the past, females had a slightly worse prognosis, possibly because hormones affect the lungs. This difference is shrinking with new treatments.
The way doctors define cystic fibrosis has changed over time. In the early 1900s, it was often confused with celiac disease and usually led to death in infancy from bowel blockages or malnutrition. In the 1950s, doctors learned to diagnose it by testing sweat for high salt levels. The discovery of the CFTR gene in 1989 changed the focus to the underlying genetic problem. Now, with new modulator drugs, cystic fibrosis is seen as a chronic disease that many people live with into adulthood, and the average life expectancy is now over 50 years in developed countries.
Recent research shows that cystic fibrosis is shaped not only by genetics but also by the lung environment. The lungs in CF create a special setting for many types of bacteria to grow. Because mucus is not cleared well, harmful bacteria can settle in and form biofilms, slimy layers that are hard to treat with antibiotics or the immune system. The body responds with a strong, ongoing inflammatory response, which releases enzymes that damage lung tissue and cause bronchiectasis. This creates a cycle of blockages, infections, and inflammation.
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The mucus becomes sticky because the defective CFTR protein fails to transport chloride and water into the airways; without water, the mucus dehydrates, becoming thick and adhesive, like glue, rather than a lubricant.
Yes, individuals with specific “residual function” mutations (Class IV or V) may have milder symptoms, pancreatic sufficiency, and are sometimes diagnosed later in life.
It is an autosomal recessive disorder, meaning a child must inherit two non-functioning genes, one from each parent; if both parents are carriers, there is a 25 percent chance with each pregnancy.
The CFTR protein is not significantly expressed in the brain, so cognitive function is generally unaffected; however, chronic illness and hypoxia can have secondary effects on mental health and focus.
In sweat ducts, the CFTR protein is supposed to reabsorb chloride (and sodium) from the sweat back into the body; when it fails, the salt remains in the sweat and travels to the skin surface.
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