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 …show more content…
In male, the vas deferent which is the tube that facilitate the passage of sperm from the epididymis to the ejaculatory duct to mix with semen during ejaculation become damage or the sperm becomes very thick and enable to pass through the vas deferent. This causes men with Cystic Fibrosis to have a low to an absent of sperm in they semen which also can make them have a very loose semen during ejaculation. In female, the thickness of mucus due to Cystic Fibrosis causes a thickening of the cervical mucus and leads to mucus plugs in the oviduct which makes it harder for the sperm to move freely and to reach the ovum.
Assessment findings During a nursing assessment, some of the following finding will be present in a patient with Cystic Fibrosis.
*Clubbing of the fingers *Shortness of breath
*Wheezing upon auscultation *Polyps in nose
*Constipation *Oily
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The nurse will be responsible for scheduling, and making sure that all requirement are fulfill. According to the Johns Hopkins Cystic Fibrosis Center, “A salty kiss on a baby’s skin used to be a parent’s first clue to the diagnosis of CF. Today the sweat test is still the gold standard for diagnosing CF; but a new array of tests, from genetic mutation analysis of the CF gene to chest and sinus CT scans to infant pulmonary function tests have been added to the diagnostic arsenal. Today, physicians can detect CF not only in newborns but in the developing fetus as
Cystic fibrosis is a continuous, genetic disease that causes persistent lung infections and limits the ability to breathe over a period of time (Cystic Fibrosis Foundation). When an individual has cystic fibrosis, they tend to have lots of various lung problems. The overall cause of their lung problems is related to basic problems with diffusion and osmosis in the large airways of the lungs. The non-working cystic fibrosis proteins do not allow salt or water to enter the air space, resulting in the mucus layer to be extremely concentrated and very sticky. When you focus on individuals without cystic fibrosis, you can see that they have a small layer of salt water in the big airways of their lungs. This layer of salt water lies underneath
Cystic Fibrosis (CF) is an autosomal recessive genetic disease that causes thickened mucus to form in the lungs, pancreas, and other organs. It affects a specific protein called Cystic Fibrosis Transmembrane Regulator (CFTR) that controls the normal movement of sodium, chloride, and water in and out of the cells within the body. Those diagnosed with CF have either too little or abnormal CFTR. When CFTR is absent or defective, the mucus usually secreted by the cells in the pulmonary airways, pancreatic ducts, and gastrointestinal tract become thickened, leading to obstructions, frequent infection, and loss of function in the affected organs (Cystic Fibrosis Symptoms, Causes & Risk Factors, 2018). According to the Cystic Fibrosis Foundation
A widely accepted Caucasian disease has since changed; as cases of its existence are appearing in the South Asian Population (Orenstein, Rosenstein and Stern, 2000). First discovered in 1989, Cystic Fibrosis (CF) is a genetically predetermined condition, its presences is lifelong and highly complex, which is why many CF sufferers and families develop various mechanisms in order to adapt to the condition (Tippingemail, Scholes, Cox, 2010). Cystic Fibrosis causes the body to develop thick, sticky mucus which clogs the lungs and affects other organs in the body, mainly the pancreas. The layer of mucus if untreated develops in to a chronic infection which can be detrimental. The pancreas of a CF patient is most vulnerable, once the mucus has
Cystic Fibrosis is an inherited condition. However, the gene for Cystic Fibrosis is recessive and
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.
What is Cystic Fibrosis? How does it affect people living with it? Cystic Fibrosis, also known as CF, is a life-threatening hereditary disease. It is inherited by a faulty cystic fibrosis transmembrane conductor (CFTR) gene from each parent (Kowalczyk, 2014, p. 74). This faulty gene makes a defective protein that does not work well and causes the body to produce sticky, thick mucus and very salty sweat("About CF: Causes, Signs & Symptoms of Cystic Fibrosis,"
To begin, cystic fibrosis is a genetic disease that causes persistent lung infections and limits the ability to breathe over time. It is an inherited disorder both parents have to be a carrier of the gene. Some people say if a both parents have the gene then their is a 50% chance that the mother will have a baby with the disorder. It affect the
This mucus build up also causes wheezing and difficulty breathing. Recently, it has become more common for individuals with cystic fibrosis to receive lung transplants during the end stages of lung disease. As mentioned, the symptoms of cystic fibrosis are life threatening, and the majority of deaths are the result of respiratory failure after battling lung diseases and infections that come as a result of the mucus build up. The life expectancy for an individual with cystic fibrosis ranges in the mid-thirties. Another symptom that comes as a result of cystic fibrosis is digestive issues. The thick mucus that affects the respiratory tract also often blocks the tubes that are crucial to digestion because they carry digestive enzymes. Without these digestive enzymes being transported to the small intestine, individuals with cystic fibrosis cannot fully absorb the nutrients they eat. These digestive issues lead to reduced weight gain and growth in individuals with cystic fibrosis as well as severe constipation. In some cases, the large intestine may begin to protrude, a symptom referred to as rectal prolapse, and may need to
Cystic Fibrosis affects 1 in every 2,500 children at birth. (ncbi.nlm.nih.gov) Cystic Fibrosis, or CF, is a genetic disorder. A genetic disorder is inherited, and is contributed to by both parents. (lung.org) Each parent has one abnormal gene. (lung.org) Cystic Fibrosis is where the body can not make, or it makes an abnormal version of the CFTR protein. CFTR is also known as cystic fibrosis transmembrane regulator. There are several symptoms, and causes of Cystic Fibrosis. These symptoms are diagnosed, according to what causes CF. Cystic Fibrosis is an inherited disease, that when after diagnosed, doctors will suggest treatments to help with the condition. Cystic Fibrosis is most common in white infants, but can
Cystic fibrosis is an inherited disorder that affects many functions of the body: breathing, digestion, and reproduction. The lifelong illness usually gets more severe with age and can affect both males and female equally. The symptoms and severity of cystic fibrosis differ from person to person. Most patients have both respiratory and digestive problems, while others only have respiratory problems. Intelligence is not affected in people with CF.
Cystic fibrosis is a disorder affecting approximately 30,000 U.S. citizens. Although this genetic disorder can affect anyone, whites tend to be at a greater risk of developing this disease. Also males and females seem to have an equal risk of developing cystic fibrosis (Gardner, 2007). Cystic fibrosis is passed onto offspring by a recessive mode of inheritance. After extensive analysis it is believed that there is a single cystic fibrosis locus located on human chromosome seven. Considering a multitude of data and factors such as tissue specificity and the predicted properties of the Cystic Fibrosis Transmembrane Conductance Regulator(CFTR) protein, it is theorized that CFTR is the direct cause of cystic
Cystic fibrosis is a rare, genetic, incurable disease. It affects cells that produce mucus, sweat, and digestive juices, it cause them to be thick and sticky, blocking airways, tubes, ducts, and passageways. The severity of symptoms depends on the person. Common include, cough, shortness of breath, wheezing, exercise intolerance, lung infections(pneumonia and bronchitis), inflamed nasal passages, stuff nose, inability to gain weight and grow, excessive salt in sweat, and foul-smelling, fatty stools, and severe constipation. Diagnostic tests for CF include a screening at birth(blood test), a sweat test(levels of salt), and a genetic test(chromosome 7). Cystic fibrosis is particularly abundant in European-Americans. It is also the most common in the United States. More than 75% of people with CF were diagnosed by age 2. Men and women are both equally affected. Over 30,000 people are living with CF in the United States, and over 70,000 worldwide. Between one and two people die everyday due to cystic fibrosis. The hope is for CF to become less prevalent due to the finding of a cure.
Cystic fibrosis is a disease in which mucus blocks the airways in the lungs. This causes lung infections over time and limits patients to breathe for a significant amount time. As the infections progress, this can eventually lead to respiratory failure. The mucus stop the pancreas from releasing digestive enzymes and prevents the body from breaking down nutrients. As this is a genetic disease, patients usually inherit two genes of cystic fibrosis. Carriers with one copy of cystic fibrosis do not inherit the disease. Patients that have CF has an abundant amount of bacteria within the lungs. The mucus can affect much more than the lungs and pancreas. For example, mucus can wedge the bile duct and cause liver disease. Even with men diagnosed
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
Mrs. J. arrives at the emergency department with her 6 year old son, PJ, who has a history of Cystic Fibrosis (CF). He is febrile (101.7° F orally), BP 98/66, HR 122, RR 32 with the use of accessory muscles. Mother states PJ has, for the last five days, exhibited signs and symptoms of upper respiratory infection, runny nose, low grade fever, cough, and fatigue. He has lost 2 pounds over the past 5 days due to anorexia though he has not had vomiting. He weighs 36 pounds and height is 3’2”. Today, PJ became more lethargic and his fever was difficult to control with pyretics.