Cystic Fibrosis is a genetic condition marked by the production of thick mucus or excess salt in different organs or parts of the body. It hinders the functioning of those tissues or organs, and causes complications over time. In this article, we will examine the effect of Cystic Fibrosis on the respiratory system specifically, and treatment plan for the same.
Mucus is a slimy, watery substance produced by the body. It protects epithelial cells in the linings of organs or tissues pertaining to the respiratory, digestive, urogenital, auditory and visual systems. It protects them from pathogens like virus, bacteria and fungi, and can be seen as the first line of defense by the body against disease.
For example, mucous in the lungs traps germs or dust and thickens into phlegm. When the person coughs or sneezes, the phlegm is expelled, and in the process, some of the microbial load too. In the digestive system, it protects against harmful pathogens that enter our body through food. The pathogens are trapped in the mucous and exit the body through feces. Being slimy, they do not obstruct the functioning of the tissues or organs, and instead slide through easily like a lubricant.
Cystic Fibrosis (CF) is an inherited disorder. In this, all those cells or tissues that produce mucus, sweat or digestive juices are affected by this condition. In this process, the mucous becomes thick and sticky, while sweat become salty. Instead of protecting the tissues, the mucus now ends up blocking tiny passages, ducts and tubes in the body, which hinders the normal functioning of that organ, gland or tissue.
CF manifests quite early in childhood, and adult-onset CF is quite rare. In the past, it used to be fatal with most children diagnosed with CF not making it to adulthood. However, advances in medicine have improved life-expectancy for CF patients with many of them making it to the 40s and 50s. It shows symptoms quite early in life, so timely treatment can be provided. In many parts of the world, new-born babies are mandatorily screened for CF.
Being an inherited condition due to genetic mutation of a particular gene, the child must get one copy of the mutated gene from both parents in order to develop CF. Else, if the child has received the mutated gene from either parent, then it may not develop CF. But it will be a carrier for this gene and pass on the risk to the children/grand-children. That is why, in some countries, women wishing to start a family or even pregnant women go in for CF screening.
Cystic Fibrosis Transmembrane-conductance Regulator (CFTR) gene is a gene that regulates the normal functioning of a protein by the same name – CFTR protein. The CFTR protein is present in all those organs, glands or tissues that create mucus, such as the lungs, liver, pancreas, intestines, immune system, heart and sweat glands.
People with CF have an abnormal mutation of the CFTR gene, which causes the mucus to become stickier and thicker than in normal conditions. This hinders or hampers the working of those organs and tissues. More specifically in the lungs, it blocks the airways, causing difficulty in breathing.
The sticky mucus is not expelled easily. It stays in the lungs and attracts pathogens, which increases the risk for severe lung infections. The infections and the hampered breathing reduce oxygen exchange in the body, leading to a cycle of complications that results in death. This is what caused fatality in CF patients in the past.
CF shows different symptoms in different parts of the body. More specifically to the respiratory system, it manifests as:
Severe CF and CF that is either misdiagnosed or diagnosed late thereby delaying treatment, can cause complications such as:
Sweat test, blood test and genetic tests are conducted on newborns or older children to diagnose CF. There is no permanent cure for CF. The aim of treatment is to loosen the mucus so that the person can expel it easily, preventing or controlling lung infections, and improving quality-of-life. Treatment-plan includes:
These modulate functioning of the CFTR gene, which in turn improves working of the CFTR protein.
Also called Chest Physical Therapy or CPT, these are a set of techniques to physically loosen and expel the phlegm. That will reduce infection or inflammation in the airways and improve lung function.
This is a long-term program that involves education about CF, exercises such as the ones mentioned above, breathing techniques that loosen mucus, counseling around diet and nutrition, and other areas of counseling or support.
Reviewed by Dr Suresh S Venkita, Group Medical Director, Kauvery Hospitals
NOTE: Take medications only when prescribed by your doctors, self-medication must be avoided under any circumstances.
Kauvery Hospital is globally known for its multidisciplinary services at all its Centers of Excellence, and for its comprehensive, Avant-Grade technology, especially in diagnostics and remedial care in heart diseases, transplantation, vascular and neurosciences medicine. Located in the heart of Trichy (Tennur, Royal Road and Alexandria Road (Cantonment), Chennai, Hosur, Salem, Tirunelveli and Bengaluru, the hospital also renders adult and pediatric trauma care.
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