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20/03/2021 Client: saad24vbs Deadline: 2 Day

Cystic Fibrosis

Created By: Tammy Wagner, Karen Byfield, Sherry Santineau, Jack Lavoie, Shawna Maggard

Objectives:

To define Cystic Fibrosis

To explain and discuss history and causes of Cystic Fibrosis

To describe impact of Cystic Fibrosis in healthcare and nursing.

Identify and recognize that living with a chronic disease like cystic fibrosis is possible through maintaining a balanced lifestyle.

Identify expected outcomes in patients with Cystic Fibrosis

Collect and explain health screenings, health interventions, health promotion and education in patients with Cystic Fibrosis

Identify national and community resources for patients with Cystic Fibrosis

Describe effects of CF on prenatal care and child bearing

Identify occupational consideration and job hazards related to CF

Identify and describe susceptibility to substance abuse and ability to cope with stress

Description:

Cystic Fibrosis is a genetic disease of the secretory glands that affects the lungs, pancreas, liver, intestines, sinuses, and sex organs.

Definition:

Cystic Fibrosis is characterized by an abnormally thick and sticky production of mucus in the body.

Mucus is normal in the body, it lubricates and protects passages such as the respiratory airways and digestive tract (Genetics Home Reference. 2017). Cystic Fibrosis is a mutation in the the Cystic Fibrosis Transmembrane Regulator (CFTR) gene that causes the over production of thick, sticky mucus that can block these passages and create breeding grounds for infection (National Human Genome Research Institute 2013). This infection can lead to scaring, permanent lung damage and even death. This mucus in the digestive tract can prevent the absorption of nutrients leading to weight loss, malnutrition, failure to thrive, as well as numerous long term problems caused from poor nutrition even though the person may be eating a solid health diet (Genetics Home Reference. 2017). The affects this mucus has on the pancreas can alter insulin production leading to diabetes. Reproductive health is also affected from the mucus produced from cystic fibrosis often leading to infertility (Genetics Home Reference. 2017).

3

History

1938- American Pathologist Dr. Dorothy Andersen named the disease cystic fibrosis of the pancreas

Early 1900’s- Physicians name the disease mucoviscidosis

1595- Texts reference the link between children with salty skin and early death rates

1948- Dr. Paul di Sant’Agnese noted the correlation of increased salt in sweat of CF patients

1989- The gene (CFTR) was identified and its genetic code was sequenced

1938, American Pathologist Dr. Dorothy Andersen described a disorder in medical literature based on autopsy findings of children that died from malnutrition; She named the disease cystic fibrosis of the pancreas (Nick 2012). The disease has also been called mucoviscidosis by other physician during the same time period because of the thick mucus present (Nick 2012). Children in the middle ages were thought to be heed or bewitched if they had salty skin, a symptom of CF (Nick 2012). Dr. Paul di Sant’Agnese noted that cystic fibrosis patients secreted more salt in their sweat during a heat wave in New York in 1948. This lead to sweat testing for cystic fibrosis (Nick 2012). In 1989 the Cystic Fibrosis Transmembrane Regulator (CFTR) gene was identified and sequenced allowing for further treatments to be developed (Nick 2012). What was once a fatal childhood disease has now become a disease that is being treated more successfully with a longer life expectancy. At the beginning of the century children with CF were not expected to life longer than a few years; with breakthroughs in treatment the median predicted survival age today is around the age of 40 (Cystic Fibrosis Foundation 2016).

4

Pathology

Cystic Fibrosis is caused from a mutation of the Cystic Fibrosis Transmembrane Regulator (CFTR) gene

This gene is responsible for the transport of chloride, and in turn water across cell membranes in the body.

The mutation of the CFTR gene prevents the chloride channels from regulating the flow of chloride and water, this causes the cells to become thick and sticky.

These thick and sticky cells, mucus, interfere with airways and passages throughout the body and influence overall health.

The mutated CFTR gene must be passed from both parents to be present in a child. This gene is responsible for sodium chloride channel permeability across cell membranes. The mutation of this gene prevents sodium chloride from crossing cell membranes and therefore dehydrates cells causing a build up of thick, sticky mucus. This mucus build up affects the lungs, pancreas, digestive system, liver and reproductive organs (National Human Genome Research Institute 2013).

5

Impacts Adults

Increasing number of Cystic Fibrosis patients are surviving into adulthood.

These people function well until the disease becomes severe.

There are increasingly more adults living with cystic fibrosis due to the advances in medicine over the last 10 years. When quality of life was examined, it was found that those living with Cystic Fibrosis had a worse quality of life due to impaired physical function. They were less likely to be in employment than others. As they get older and their disease progresses, they suffer in self-esteem. Anxiety and depression become prevalent (Pfeffer & Pfeffer, 2003, p. 64).

6

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