Cystic fibrosis genetic disorder

Cystic fibrosis genetic disorder

Cystic fibrosis

Introduction

A genetic disorder is a disease that is caused by an abnormality in an individual's DNA. Abnormalities can range from a small mutation in a single gene to the addition or subtraction of an entire chromosome or set of chromosomes. In this essay I would be focusing on the genetic disorder called cystic fibrosis. In This essay I will be discussing about; what is cystic fibrosis, the affects in respiratory and digestive systems, symptoms of cystic fibrosis, organs affected by cystic fibrosis, diagnose of cystic fibrosis and finally the treatment for the cystic fibrosis disorder.

What is cystic fibrosis?

Cystic fibrosis is a chronic disease that affects mainly the respiratory and the digestive system the disease progresses and can be serious. Cystic fibrosis is an inherited diseases caused by an abnormal plasma membrane channel protein; mucous secretion become too thick to be transported easily, leading to respiratory problem . Cystic fibrosis is a recessive disorder, which means that both parents must pass on the defective gene for any of their children to get the disease. If a child inherits only one copy of the faulty gene, he or she will be a carrier. The most common mutation is a three-base deletion in the DNA sequence, causing an absence of a single amino acid in the protein product.Cystic fibrosis inherits a defective gene on chromosome 7 called cystic fibrosis transmembrane conductance regulator. The protein produced by this gene normally helps sodium chloride move in and out of cells. If the protein doesn't work correctly, that movement is blocked and an abnormally thick sticky mucous is produced on the outside of the cell. The cells most seriously affected by this are the lung cells. This mucous clogs the airways in the lungs, and increases the risk of infection by bacteria. Cystic fibrosis affects the sweat glands where Too much salt is lost through sweat, which can disrupt the delicate balance of minerals in the body. More than 1,000 different mutations in the CFTR gene have been identified in cystic fibrosis patients. Although it affects all races and ethnic groups, cystic fibrosis occurs mostly in white people whose ancestors came from northern Europe.

How is the respiratory and digestive systems affected by cystic fibrosis?

Cystic fibrosis affects The respiratory system by failing the respiratory defence system due to inherited congential defects affecting mucus production or transport.the respiratory mucosa produces dense,viscous mucus that cannot be transported by the respiratory defense system.the mucus escalator stops working ,leading to frequent infections,and mucus blocks the smaller respiratory passageway,making breathing difficult.Digestive system is also affected by The thick mucous which blocks ducts in the pancreas, so digestive enzymes can't get into the intestines. Without these enzymes, the intestines cannot properly digest food and absorb fats and proteins. People who have the disorder often do not get the nutrition they need to grow normally.

Organs affected by cystic fibrosis

Lungs If you have CF, the thick mucus is difficult to cough up and provides an ideal environment for bacterial growth, leading to chest infections. Over time, repeated infections can damage the lungs and you may become more breathless and prone to further chest infections. Treatment with antibiotics can help treat your chest infections and prevent damage to the lungs.

Pancreas blocked pancreatic ducts

Small intestine can not fully absorb nutrients

Skin-sweat glands produces saly sweat

Sinuses - sinusits (infections)

Reproductive organs: male or female complications Men who have CF are infertile because they're born without a vas deferens. This is the tube that delivers sperm from the testicle to the penis.

A woman who has CF may have a hard time getting pregnant because of mucus blocking her cervix or other CF complications.

Symptoms of cystic fibrosis

Symptoms of cystic fibrosisare mostly due to thick mucus a.nd also related to an upset of the balance of minerals in your blood

Other medical problems - inflamed sinus

Nasal polips,growth insid the nose,rounede and enlarged fingers and toes and coughing up blood

Symptoms usually appear during the first year ,signs may not show up until adolescence Chronic cough and thick mucus

Symptoms of cystic fibrosis can include: coughing or wheezing, respiratory illnesses (such as pneumonia or bronchitis), weight loss, salty-tasting skin, and greasy stools. Because the lungs are clogged and repeatedly infected, lung cells don't last as long as they should. Therefore, most cystic fibrosis patients only live to be slightly more than thirty years old.

Low bone density also tends to occur late in CF.it can lead to a bone-thining disorder called osteoporosis

Diagnoses for cystic fibrosis

People with cystic fibrosis have a high amount of salt in their sweat. , doctors can use a sweat test it measure the amount of sodium chloride in a person's sweat. Sweat is collected from an area of the skin usually the forearm,is made to sweat by chemical and applying a mild electric currect,to collect the sweat,the area is covered with a filter paper and wrapped in plastic then it is taken to a laboratory to be analyzed.

A small percentage of peoplewith cf have normal sweat chloride levels.they can only be diagnosed by chemical tests for the presence of the mutated gene.

In newborns, doctors can measure the amount of a protein called trypsinogen in the blood . The level of this protein is higher than normal in people with cystic fibrosis.

Stool examination can help identify digestive abnormalities that are typical of cystic fibrosis.

Other test can assist in diagnose of cf is lung function test ,chest x-rays and sputum cultures

Finally, genetic tests can identify a faulty CFTR gene using a sample of the patient's blood.

Genetic tests are tests on blood and other tissue to find genetic disorders. About 900 such tests are available. Doctors use genetic tests for several reasons. These include

Finding possible genetic diseases in unborn babies

Finding out if people carry a gene for a disease and might pass it on to their children

Screening embryos for disease

Testing for genetic diseases in adults before they cause symptoms

Confirming a diagnosis in a person who has disease symptoms

People have many different reasons for being tested or not being tested. For many, it is important to know whether a disease can be prevented or treated if a gene alteration is found. In some cases, there is no treatment. But test results might help a person make life decisions, such as career choice, family planning or insurance coverage. A genetic counselor can provide information about the pros and cons of testing.

Treatment of cystic fibrosis

there is no cure for cystic fibrosis, new treatments are helping people with the disease live longer than before. Most treatments work by clearing mucous from the lungs and preventing lung infections. The common treatments include:

Chest physical therapy in which the patient is repeatedly clapped on the back to free up mucous in the chest ,exercise and medications are used to reduces the mucus blocking the airways in which the patient is repeatedly clapped on the back to free up mucous in the chest

The digestive problems in cf can be treated with a well balanced,high calorie diet,high in protein,and enzymes that help digestion is often prescribed.

Supplements of vitamins A,D,E and K are given to ensure good nutrition.enemuas and medication that thin the mucus are used to treat intestinal obstructions.

Inhaled antibiotics to kill the bacteria that cause lung infections

Bronchodilators (also used by people with asthma) that help keep the airways open

Pancreatic enzyme replacement therapy to allow proper food digestion

Gene therapy (a treatment currently in clinical trials), in which the healthy CFTR gene is inserted into the lung cells of a patient to correct the defective gene.

Advanced cf lung transplant surgery may be an option.

Conclusion

Prevention

A pregnant woman can have tests to find out if the baby she carries has cf but teste cannot detect all types of cf

Couples who have one or more childrens with cf in their families can have tests to determine if they are cf carriers if they are,they are counselled regarding their oods of having another baby with cf

Prenatal test can be taken to see if the fetus has cystic fibrosis genes from both parents,carrier for one gene,or is altogether free of the cystic fibrosis genes.there are 2 prenatal tests done to check for cf :an amniocentsis or chorionic villus biopsy but 2 test involves risks to the mother and the unborn child.

Most,but not all,men are infertile because of a blockage of a mechanical blockage of sper, and cannot have children.

Advances in medicine,people with cystic fibrosis can live longer with a better quality of life.

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