Our genetics and DNA design the entire make up of the human body. From our physical appearance to our health and mental capabilities. Parents have dominant and recessive traits that decide the genetic makeup of their offspring. More times than often the match up of the patient’s genes can pass down a genetic disorder to the offspring. One common example of an autosomal recessive disorder is cystic fibrosis. Cystic fibrosis is a genetic condition in which the lungs and digestive system become clogged with thick sticky mucus. When learning about this disorder, it is important to understand the etiology, pathogenesis, and clinical manifestations. Knowing this information will allow for an enhanced perceptive on the people who live with …show more content…
For the cystic fibrosis gene to be passed to the offspring both parents need to be carriers. If only one parent is a carrier, then the child will not develop cystic fibrosis but will also become a carrier and could pass the gene to their children. Cystic fibrosis is the most common fatal inherited disease in white people. According to Medscape, 1 case per 3,200-3,500 population of whites of northern European origin are affected. “Cystic fibrosis is caused by mutations in a single gene on the long arm of chromosome 7 that encodes from cystic fibrosis transmembrane regulator (CFTR), which functions as a chloride channel in epithelial cell membranes” (Porth page 584). The mutation reduces the epithelial membrane’s resistance to the …show more content…
According to the CFF Homepage several clinical manifestations include; salty-tasting skin, persistent coughing, often times with phlegm, common lung infections, wheezing, shortness of breath, poor growth or weight gain in spite of a good appetite, regularly greasy, bulky stools or constipation, and male infertility. Salty-tasting skin occurs because the epithelial cells on the sweat glands are affected, large amount of salt is released when the patients sweats, leaving a salty frosting on the skin. A persistent cough is expected because the lungs are trying to remove the phlegm and clear the airway. Lung infections are frequent because the “buildup of mucus makes it easier for bacteria to grow and cause infections” (What Are the Signs and Symptoms of Cystic Fibrosis? (n.d.)). Wheezing and shortness of breath are also caused because of the buildup of mucus in the lungs. Patients with cystic fibrosis have poor growth or weight gain in spite of a good appetite, as the mucus that lines the intestines enables the patient from getting enough nutrients because the pancreas cannot release the necessary enzymes to help absorb fats and proteins. Since the intestines cannot fully absorb fats and proteins, this causes regular greasy, bulky stools or constipation. “In 97–98% of men with CF, a bilateral congenital absence of the vas deferens (CBAVD) blocks the transport of spermatozoa from
There are many possibilities of how your child could have gotten Cystic Fibrosis. I have attached a chart below known as a pedigree that will explain how your child was affected. There are two ways of getting CF. Cystic Fibrosis can be gotten if the child inherits two copies of CFTR (Cystic fibrosis transmembrane conductance regulator) gene that contain mutation. Each of these have to be one copy from each of the
According to Grossman (2005), Cystic Fibrosis also Known as “CF”, is a genetic or an inherited disorder develop due to a defect of cell protein function. An individual can inherit Cystic Fibrosis only when both parents meaning both the person’s father and mother are carriers of this dysfunctional gene. The abnormal cell protein that causes Cystic Fibrosis is known as CFTR or cystic fibrosis transmembrane regulator. This particular type of cell protein helps maintain a balanced movement of certain form of salt and water in the body’s cell. In Cystic Fibrosis, this movement of salt and water in and out of the body cells become impaired leading to a thickened mucus. The Cystic Fibrosis Foundation point out on his website that both boys and
Cystic Fibrosis is the most common genetically inherited disease in Australia with one out of every twenty-five people are carriers of the CF gene or similar gene mutations that end in a CF , symptoms of Cystic Fibrosis depend on the level of severity of the gene. Carriers will develop thick and sticky mucus within the lungs, airways, as a result carriers will experience a persistent and difficult cough, breathlessness, the inability to exercise, constant lung infections, inflamed nasal passage is the reason the life expectancy is 25 years of age. The CF gene also has a significant effect on the digestive symptoms such as foul smelling and greasy excretes with strain to excrete, intestinal blockage, the inability to gain weight and constipation.
The type of mutation that causes Cystic Fibrosis occurs in the CFTR gene, or Cystic Fibrosis Transmembrane Conductance Regulator gene. This gene is important to the body because it helps provide channels that transport negatively charged particles (chloride ions) in and out of the cell. Chloride has an important role in the human body by how it controls the movement of water in tissue, which allows mucus to become thin. Mutations in the CFTR gene interrupts the function of the chloride channels. It makes the regulating process of the flow of chloride ions and water across the cell membranes not happen. This causes passageways to produce mucus that is very thick. The thick mucus causes these passageways to clog, and trap
Cystic Fibrosis is a single gene disease, the Cystic Fibrosis Transmembrane Regulator gene is what causes CF, more than 900 mutations of this single gene has been discovered. Every person inherits two CFTR genes, one from each parent. Children who inherit a faulty CFTR gene from each parent will have CF. Children who inherit one faulty CFTR gene and one normal CFTR
There are six hallmark signs and symptoms of this disease. The first sign or symptom is the patient having very salty tasting skin. This is because the body tries to cool the skin by releasing sweat. The sweat contains water and salt which travel to the epidermis to help cool the skin. On the epidermis water evaporates and the salt is usually reabsorbed into the skin. In patients with Cystic Fibrosis for some reason the salt is not reabsorbed causing the skin to have a salty taste from the excess salt that is sitting in the skin. Another sign and symptom of CF is frequent infections such as Pneumonia and Bronchitis.
Cystic Fibrosis is inherited by the parents. For a child to be affected with Cystic Fibrosis, both parents must pass the defective gene. If a child has one normal gene and one disease gene, the child does not show clinical signs of the disease, however the child is still a carrier.
Cystic Fibrosis (CF) is a genetic disorder in which mucus glands produce abnormally thick secretions. These secretions can lead to chronic infections of the lungs and eventually lead to obstruction of the pancreas, resulting in digestive enzyme deficiency, the liver is also sometimes affected. Secretions from the sweat and salivary glands of a CF patient frequently contain abnormally high amounts of sodium and chloride. Because the body produces a high amount of salt, a sweat test is generally used to diagnose the disorder.
Specifically what Cystic Fibrosis affects is the cell’s permeability to move salt and water in and out. Damage progresses in the respiratory system and chronically in the digestive system. This is due to the lungs and pancreas secreting thick mucus that blocks passageways and preventing normal activity. Abdominal symptoms include inability of the pancreas to supply digestive enzymes to the intestine because of the thick mucus blocking the pancreatic duct. Also secreted sweat has too much salt, so the skin is more salty which becomes a problem is during prolonged exercise. Lastly it can affect fertility of men.
The symptoms of cystic fibrosis are salty-tasting skin, persistent coughing (sometimes with phlegm), Lung infections that are frequent, shortness of breath, constipation, and male infertility. Some examples of lung infections are pneumonia and bronchitis. If you have Cystic Fibrosis, you’re mucus becomes sticky and thick, and blocks your airways and becomes built up in your lungs. All of the extra mucus build up makes it much easier
Cystic Fibrosis (CF) is a disorder causing the body to release extremely thick and sticky mucus that clogs the lungs and pancreas, leading to problems with breathing and digestion, infection, and ultimately death. Abnormal secretion of sweat and saliva glands is also characteristic of CF. This disease a hereditary disorder of the exocrine glands that is characterized by respiratory and digestive problems and the most common inherited disease among Caucasians, affecting 3,600 live births in the Canada alone. CF affects men and women equally, but affects white people more than black people. This disease mainly affects children and young adults and is diagnosed by the age of three. Due to the advances in genetic research, diagnosis has been
Cystic Fibrosis, a genetic disease that is often considered progressive, affects a person's ability to breathe by causing frequent lung infections. A thick buildup of mucus in several organs such as the lungs and pancreas are caused by a defective gene in those with cystic fibrosis. This gene is inherited by either parent who carried the gene. In some cases, the buildup of mucus can cause respiratory failure or prevent the release of digestive enzymes that allows the body to break down food and absorb vital nutrients. Common symptoms to look for in people with cystic fibrosis are chronic coughing, frequent sinus infections, shortness of breath, salty tasting skin etc.
Cystic Fibrosis cannot be developed or contracted it is something you’re born with. CF is a recessive disease, it occurs when a child inherits one defective copy of the gene from each parent. This gene mutation is responsible for cystic fibrosis. ("Cystic fibrosis Canada," 2011) This gene is known as the CFTR gene ("www.medincinet.com," 1996). Reference Figure 3. The “gene makes a protein that controls the movement of salt and water in and out of your body's cells. In people who have cystic fibrosis, the gene makes a protein that doesn't work right. This causes the thick, sticky mucus” ("www.medincinet.com," 1996).
Cystic Fibrosis is caused by a genetic defect in Chromosome 7. Chromosome 7 encodes the cystic fibrosis transmembrane conductance regulator, also known as CFTR. There are over 1,000 mutations of this gene causing cystic fibrosis, with each mutation manifesting as a different variation of disease onset and clinical presentation. The most common mutation is the loss of phenylalanine residue at deltaF508. The abnormal functioning CFTR causes impaired chloride transport and more viscous secretions. The defect causes dehydrated secretions in the respiratory tract and gastrointestinal tract. Being dehydrated, these secretions become more difficult to move throughout the body. Along with impaired
Cystic Fibrosis can cause problems in the reproductive system. Cystic Fibrosis patients have many more sexual reproduction problems than a healthy human. In males with CF, they are likely to be infertile because of the tube connecting the testes and the vas deferens is missing or blocked with mucus. In women with CF, pregnancy can be a lot more difficult. Pregnancy can worsen the symptoms of Cystic Fibrosis. Women with CF may also be less fertile than women without CF. Women with CF should always consult with a doctor to know all of the possible risks. In order to get CF, both partners must be a carrier because the CF gene is recessive. If someone is a carrier, they could pass it on to their own child. Cystic Fibrosis tends to run in families, since it is an inherited disease. It is also most common in Caucasians.