Symptoms And Inheritance Of Cystic Fibrosis


Cystic fibrosis is a recessive genetic disease of secretary glands, including those that make mucus and sweat. People affected by Cystic fibrosis inherit two faulty genes from each parent. Parents don't necessarily have the disease themselves.

The lungs, pancreas, liver, intestines, sinuses, and sex organs are mostly affected by Cystic fibrosis. Mucus is normally a slippery, watery substance made by some of the body tissues. The role of mucus is simple; it keeps the linings of certain organs moist and prevents them from dying out or getting infected. In Cystic fibrosis the mucus becomes thick and sticky. Mucus begins to build up in the lungs and blocks airways. The build up mucus makes it easy for bacteria to grow which leads to infections. Mucus can also block tubes, ducts in the pancreas. Digestive enzymes made by the pancreas cannot reach the small intestine due to the blockage. These enzymes help break down the food that is consumed. Without these enzymes the intestine cannot fully absorb the fats and proteins, which can be the cause of malnutrition and vitamin deficiency.

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Cystic fibrosis is caused by a defective gene, which causes the body to produce thick and highly viscous mucus. The CF gene is located on chromosome 7.Genes are segments of deoxyribonucleic acid (DNA) that codes for certain proteins. If the sequence of DNA mutates in a gene, the protein for which it encodes also can change. In CF, a change or mutation in the DNA sequence of the gene can lead to the production of a defective version of an important protein. This is protein is called Cystic fibrosis transmembrane conductance regulator (CFTR). This protein works as an ion pump within the cell membrane and regulates the movement of sodium and chloride. As a result of this water is retained within the cells. The defect lies in the CFTR gene, which is the cause of cystic fibrosis that causes thick, viscous, and, salty mucus.

In rare cases, cystic fibrosis can manifest as a coagulation disorder. Children that are younger are sensitive to vitamin K malabsorptive disorders because only a very small amount of vitamin k crosses the placenta, leaving the child with very few. Factors II, VII, IX, and X (clotting factors) are vitamin K- dependant, low levels of it can cause result in coagulation problems. It is therefore, important when a child presents with unexplained bruising, a coagulation evaluation may be warranted to determine whether there is an underlying disease.

Cystic Fibrosis can affect different parts of the body such as the lungs, which results in clogging of airways due to mucus build up. Therefore, makes the lung susceptible to inflammation and infection. This will present a variety of symptoms, in the early stages incessant coughing, phlegm production, and exercising ability is decreased. A bacterium that normally inhibits the thick mucus grows out of control, causing pneumonia. In later stages, changes in the structure of the lung causes bronchiectasis, pulmonary hypertension, heart failure, hypoxia ( difficulty of oxygen reaching the body), and respiratory failure. Staphylococcus aureus, Haemophilus influenzae, and Pseudomonas aeruginosa are the most common organisms causing lung infections. In CF, people also develop other types of lung disease beside these typical bacterial infections. Broncopulmonary aspergillosis is among those, in which the body's response to the common fungus Aspergillis fumigatus causes worsening of breathing problems. Another is infection with Mycobacterium avium complex (MAC), a group of bacteria related to tuberculosis, which can cause a lot of lung damage and does not respond to common antibiotics.

Mucus that is present in the paranasal sinuses is equally thick and may also cause blockage of the sinus passages, leading to infection. This may be the cause of facial pain, fever, nasal drainage, and headaches and headaches. Peoples with CF may develop overgrowth of the nasal tissue (nasal polyps) due to inflammation from chronic sinus infections. Polyps can block the nasal passages and increase breathing difficulties.

Individuals who are genetic carriers for CF have one working copy of their CFTR gene and one copy that is faulty in every cell. Being a genetic carrier for CF is not like being a carrier of an infectious virus such as hepatitis where the hepatitis virus is carried in the body. Genetic carriers for CF do not carry CF in their bodies and can't pass it on to others like a virus. They can however, pass the faulty gene on to their children.

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Once a change occurs in a gene in an egg or sperm cell, the defective gene may be inherited through the generations of a family. One possibility is that geographically would have meant that people from close villages who had the defective gene were more likely to have children together and this would have kept the change in the CFTR gene within the local populations. There would be a higher chance of both parents beginning genetic carriers for CF. Therefore the cases of children born with CF would increase. This genetic condition is passed from parents to children in their genes. The pattern of inheritance of the faulty salt-transport gene causing CF in families is influenced by two factors.

Every newborn baby is screened for the presence of several inherited conditions in which CF is one of it. A small blood sample is taken from the infant's heel and sent to a lab. This is very important as this screening test with genetic testing, can determine if the baby has both copies of his or her CFTR gene changed by the common mutation. These babies will have CF. Those babies who only have one copy of their mutated gene also give a positive result. These babies will be given a diagnostic test called the "sweat testing"

There is an increased risk that someone is a carrier of a faulty salt-transport CFTR gene, if they have a family history of CF or a blood relative who is known to be a genetic carrier for CF. Genetic testing to determine if a person is a carrier of the defective gene running in the family may be available and can be discussed with a doctor. Genetic screening may also be available to those who have a high chance of being a genetic carrier.

It is quite evident that an early diagnosis of CF is very important and can improve survival. Lung problems related to CF should include antibiotics to prevent lung infection and sinus infections. They may be taken orally, IV, or by breathing treatments. People with cystic fibrosis may take antibiotics only when needed, or all the time. Doses are usually higher than normal. Also used are inhaled medicines to open up airways, DNAase enzyme replacement therapy to thin mucus and make it easier to cough up. Flu vaccines are given and pnuemococcoal vaccine (PPV) yearly. Depending on the severity of the lung tranplant is also available. Treatment for bowel and nutritional problems with a special diet high in protein andcalories, pancreatic enzymes to help absorb fats and proteins, vitamin supplements.

The most common complication related to CF is chronic respiratory infection. Other problems associated with C include bowel problems, coughing up blood, crf, diabetes, infertility, liver disease or liver failure, pancreatitis, biliary cirrhosis, malnutrition, nasal polyps and sinustistis, osteoporosis and sinustisis, pneumonia, pneumothorax, right-sided heart failure.