CF is
caused by a mutation in the CF transmembrane conductance regulator (CFTR) gene
. The CFTR protein produced by this gene regulates the movement of chloride and sodium ions across epithelial cell membranes.
What is the pathophysiology behind cystic fibrosis?
CF is
caused by a mutation in the CF transmembrane conductance regulator (CFTR) gene
. The CFTR protein produced by this gene regulates the movement of chloride and sodium ions across epithelial cell membranes.
What are the physiological effects of cystic fibrosis?
CF causes
thick mucus that clogs certain organs
, such as the lungs, pancreas, and intestines. This may cause malnutrition, poor growth, frequent respiratory infections, breathing problems, and chronic lung disease.
Is cystic fibrosis pathogenic?
CF is
caused by pathogenic mutations in
a single large gene on chromosome 7 that encodes the cystic fibrosis transmembrane conductance regulator (CFTR) protein [4-9].
What is the pathophysiologic mechanism of cystic fibrosis leading to obstructive lung disease?
Cystic fibrosis patients exhibit lung disease consistent with a failure of innate airway defense mechanisms. The link between abnormal ion transport and disease initiation and progression is not fully understood, but
airway mucus dehydration
seems paramount in the initiation of CF lung disease.
What is pathophysiology of a disease?
Medical Definition of pathophysiology
: the physiology of abnormal states specifically :
the functional changes that accompany a particular syndrome or disease
.
What are the primary characteristics of cystic fibrosis?
Cystic fibrosis is an inherited disease characterized by the buildup of thick, sticky mucus that can damage many of the body’s organs. The disorder’s most common signs and symptoms include
progressive damage to the respiratory system and chronic digestive system problems
.
How does cystic fibrosis affect the reproductive system?
As the movement of salt and water in and out
of cells is altered, mucus becomes thickened
. In the reproductive system, the thickened secretions can cause blockages. These can affect how the sex organs develop and work. For most men with CF, the tube (vas deferens) that carries sperm to the penis does not develop.
How does cystic fibrosis affect the circulatory system?
Available evidence indicates that cystic fibrosis
causes widespread involvement of the cardiovascular system
. Aside from the heart, unusual aberrations have been observed in the bronchial arteries, the aorta, and the systemic capillaries. Of all cardiovascular complications, cor pulmonale is the most serious.
How does cystic fibrosis affect the cell membrane?
Cystic fibrosis
The resulting
abnormal channel breaks down shortly after it
is made, so it never reaches the cell membrane to transport chloride ions. Disease-causing mutations in the CFTR gene alter the production, structure, or stability of the chloride channel.
What organism is involved in cystic fibrosis?
Organisms such as
Staphylococcus aureus, non-capsulate Haemophilus influenzae, Pseudomonas aeruginosa, Burkholderia cepacia complex (Bcc)
and respiratory viruses are well recognized as important pathogens which drive inflammatory responses and lung injury in cystic fibrosis (CF).
What pathogen causes cystic fibrosis?
Staphylococcus aureus
Usually, this is the first pathogen to infect and colonize the airways of CF patients, being the most common pathogen [13]. This microorganism is prevalent in children and may cause epithelial damage, opening the way to the adherence of other pathogens such as Pseudomonas aeruginosa [14].
What is cystic fibrosis Medscape?
Cystic fibrosis (CF) is
a disease of exocrine gland function
that involves multiple organ systems but chiefly results in chronic respiratory infections, pancreatic enzyme insufficiency, and associated complications in untreated patients.
What are the primary nursing interventions in the management of respiratory distress in cystic fibrosis?
- Improve airway clearance. …
- Improve breathing. …
- Prevent infection. …
- Maintain adequate nutrition. …
- Reducing the child’s anxiety. …
- Provide family support.
How do you diagnose cystic fibrosis?
- Immunoreactive trypsinogen (IRT) test. The IRT test is a standard newborn screening test that checks the blood for abnormal levels of the protein called IRT. …
- Sweat chloride test. …
- Sputum test. …
- Chest X-ray. …
- CT scan. …
- Pulmonary function tests (PFTs).
Why is sweat salty in cystic fibrosis?
As CF is caused by a faulty gene that controls the movement of chloride and water into and out of cells, people with CF often sweat more than people without the condition, and this sweat
contains high levels of chloride
, which can crystallise into salt visibly on the skin.
What is the pathophysiology process?
Pathophysiology (consisting of the Greek origin words “pathos” = suffering; “physis” = nature, origin; and “logos” = “the study of”) refers to
the study of abnormal changes in body functions that are the causes, consequences, or concomitants of disease processes
.
What cystic fibrosis means?
Cystic fibrosis (CF) is
an inherited disease of the mucus and sweat glands
. It affects mostly your lungs, pancreas, liver, intestines, sinuses, and sex organs. CF causes your mucus to be thick and sticky. The mucus clogs the lungs, causing breathing problems and making it easy for bacteria to grow.
What is etiology and pathophysiology?
Definition. The terms “etiology” and “pathogenesis” are closely related
to the questions of why and how a certain disease or disorder develops
. Models of etiology and pathogenesis therefore try to account for the processes that initiate (etiology) and maintain (pathogenesis) a certain disorder or disease.
What is the need of pathophysiology?
This branch of medicine allows to explain why diseases are produced, how are they produced and which are their symptoms. Pathophysiology describes
the “history” of the disease
and, once it has reached the living being, it is divided in three phases: initial, clinical and of resolution.
How does cystic fibrosis affect the integumentary system?
In people with cystic fibrosis, the secretions are
abnormally thick and sticky
, so that they don’t move as easily. Instead of acting as lubricants, these thicker secretions may clog tubes, ducts and passageways throughout the body. Cystic fibrosis also causes increased salt in sweat on the skin.
Can females with cystic fibrosis have a baby?
Most women with this condition can get pregnant
, but it could take a little longer than usual. Cystic fibrosis thickens mucus throughout the body — including mucus in the cervix. Thicker mucus makes it harder for the man’s sperm to swim into the cervix and fertilize an egg.
How does cystic fibrosis affect homeostasis?
In CF, these homeostatic mechanisms are impaired, leading to
a dehydrated and acidic ASL
. ASL volume depletion in CF is secondary to defective anion transport by the abnormal cystic fibrosis transmembrane conductance regulator protein (CFTR).
How does cystic fibrosis cause metabolic alkalosis?
CF patients may develop contraction alkalosis. Patients with CF are at higher
risk of developing body fluid volume contraction and dehydration
. This is due to the unique salt (low chloride, high HCO3) losing state [12].
How does cystic fibrosis affect you intellectually?
CF does not affect cognitive or learning abilities
. Students with CF may: need to go to the restroom often (digestive problems from CF can cause diarrhea and flatulence) take oral or inhaled medication at school.
Which types of cells are affected in cystic fibrosis and why?
People who have one defective gene from one parent are called carriers. They don’t have the disease. CF is a long-term (chronic) disease that
gets worse over time
. It is a life-threatening condition.
What is cystic fibrosis Physiopedia?
Cystic Fibrosis is
an inherited disease of the mucus and sweat glands
(exocrine glands) affecting mostly the lungs, liver, pancreas and intestines. It causes damage to lung tissue, inflammation, and acute susceptibility to bacterial infections.
What is postural drainage and percussion?
Postural drainage and percussion (PD&P) are
often used together to help clear the lungs and airway in cystic fibrosis
(CF). … Postural drainage and percussion (PD&P) uses both gravity and percussion to loosen thick, sticky mucus from the airways. Once loose, the mucus can be removed by coughing.
What is the management of cystic fibrosis?
How Cystic Fibrosis Is Treated. There have been many advances in CF treatment. Patients can take
medications to help thin and clear the thick mucus from
the airways, enzymes to help absorb fat and nutrients, and antibiotics to treat infections. There are also new treatments that target fixing the CFTR protein.
What is the most common mutation found in cystic fibrosis?
The most common CF mutation,
F508del
, is primarily considered to be a processing mutation. The F508del mutation removes a single amino acid from the CFTR protein.
Which organelle is affected by cystic fibrosis?
In most kids with cystic fibrosis, says Balch, the CFTR protein gets stuck inside the cells in a cell organelle known as
the endoplasmic reticulum
—a convoluted membranous sac within the cell where the synthesis of proteins like CFTR and other vital cell functions take place.
Why does cystic fibrosis cause bacterial infections?
People with cystic fibrosis are prone to infections
because of the thick, sticky mucus that clogs their airways
.
What is bacterial colonization in cystic fibrosis?
People with cystic fibrosis are often colonized with
bacteria
, especially in the mucous and airways. If the organisms begin to invade tissues and cause damage or make the person sick, the colonization becomes an infection.
What is the causative agent of pneumonia?
Viruses, bacteria, and fungi can all cause pneumonia. In the United States, common causes of viral pneumonia are influenza, respiratory syncytial virus (RSV), and SARS-CoV-2 (the virus that causes COVID-19). A common cause of bacterial pneumonia is
Streptococcus pneumoniae
(pneumococcus).
What is the nursing management of cystic fibrosis?
Nursing care plan for clients with cystic fibrosis includes
maintaining adequate oxygenation
, promoting measures to remove pulmonary secretions, emphasizing the importance of adequate fluid and dietary intake, ensuring adequate nutrition, and preventing complications.
Why do CF patients take enzymes?
With cystic fibrosis, the same thick mucus that fills the lungs also keeps the pancreas from releasing enzymes that the body needs to digest food. This condition is called pancreatic insufficiency. Almost all people with cystic fibrosis need to take extra
enzymes to make up for what their pancreas can’t do
.
What does a cystic fibrosis nurse do?
Your CF nurse is
your primary contact
and is there to address your concerns, answer questions or direct you to the right CF care team member when discussing a specific part of your treatment plan. CF nurses also have the primary responsibility of providing CF education at initial diagnosis and throughout life.
