Cystic Fibrosis (CF) is genetically inherited through a defective gene, which results in the body producing "abnormally thick and sticky fluid, called mucus. This mucus builds up in the breathing passages of the lungs and in the pancreas, the organ that helps to break down and absorb food." (PubMed Health, 2011)
Reports state that millions of Americans carry the defective Cystic Fibrosis gene however; most do not have any symptoms since the person with Cystic Fibrosis "must inherit two defective CF genes, one from each parent. An estimated 1 in 29 Caucasian-Americans have the CF gene. The disease is the most common, deadly, inherited disorder affecting Caucasians in the United States. It's more common among those of Northern or Central European descent." (PubMed Health, 2011)
The majority of children with Cystic Fibrosis are diagnosed by the time that they are two years of age however, a small percentage are not diagnosed until they are 18 years of age or older and are generally those with the milder form of Cystic Fibrosis. Symptoms of Cystic Fibrosis in infants include those stated as follows:
(1) Delayed growth;
(2) Failure to gain weight normally during childhood;
(3) No bowel movements in the first 24 to 48 hours of life; and (4) Salty-tasting skin. (PubMed Health, 2011)
Bowel-related symptoms include those as follows:
(1) Belly pain from severe constipation;
(2) Increased gas, bloating, or a belly that appears swollen (distended);
(3) Nausea and loss of appetite;
(4) Stools that are pale or clay colored, foul smelling, have mucus, or that float; and (5) Weight loss. (PubMed Health, 2011)
Reported as lung-related symptoms are those stated as follows:
(1) Coughing or increased mucus in the sinuses or lungs;
(2) Fatigue;
(3) Nasal congestion caused by nasal polyps;
(4) Recurrent episodes of pneumonia. (PubMed Health, 2011)
Symptoms in someone with cystic fibrosis include the following stated symptoms:
(1) Fever;
(2) Increased coughing;
(3) Increased shortness of breath;
(4) Loss of appetite;
(5) More sputum; and (6) Sinus pain or pressure caused by infection or polyps. (PubMed Health, 2011)
Later life symptoms include the following stated symptoms:
(1) infertility in men;
(2) Repeated inflammation of the pancreas (pancreatitis); and (3) Respiratory symptoms. (PubMed Health, 2011)
III. Pathophysiology
Cystic Fibrosis (CF) is described as an "inherited multisystem disorder of children and adults, characterized chiefly by obstruction and infection of airways and by maldigestion and its consequences." (Easy Pediatrics, 2012 ) CF is reported as inherited as "…an autosomal recessive trait. The CF gene codes for a protein of 1,480 amino acids called the CF transmembrane regulator (CFTR)." (Easy Pediatrics, 2012) It is reported that there are four "long-standing observations" considered pathophysiologically important as follows:
(1) Failure to clear mucous secretions;
(2) a paucity of water in mucous secretions;
(3) an elevated salt content of sweat and other serious secretions; and (4) chronic infection limited to the respiratory tract. (Easy Pediatrics, 2012)
Stated additionally in regards to the pathophysiology of Cystic Fibrosis is that there is "a greater negative potential difference across the respiratory epithelia of CF patients than across the respiratory epithelia of control subjects. Aberrant electrical properties were also demonstrated for CF sweat gland duct epithelium. The membranes of CF epithelial cells are unable to secrete chloride ions in response to cyclic adenosine monophosphate (cAMP) -- mediated signals and, at least in the respiratory tract, excessive amounts of sodium are absorbed through these membranes." (Easy Pediatrics, 2012)
IV. Etiology
More than 1000 potential changes can occur in CFTR, the gene associated with cystic fibrosis to result in cystic fibrosis however, it is reported that approximately 70% of patients with CF have the same defect or "F508" which is reported as a "deletion of 3 bases that causes the loss of the protein phenylaline." (Grossman and Grossman, 2005) Patients with a complete loss of the CFTR gene are stated to have a clinical phenotype representative of pancreatic disease,...
Cystic Fibroids Cystic fibrosis Cystic fibrosis is a disease that can be passed down from one generation to the other. It affects secretary glands that produce mucus and sweat. The disease results after the fibrosis transmembrane conductance regulator (CFTR) gene that is found on chromosome 7 has undergone some sort of mutation. Mutation on chromosome 7 alters the production and function of CFTR glycoprotein (Scott, 2013). Studies have identified more than 1600
Cystic Fibrosis: The Facts is a comprehensive, informative, and well-written book about the disease and its treatments. Ann Harris and Maurice Super address the book to a general audience, making the book extremely accessible to laypeople. Cystic Fibrosis: The Facts is an ideal source for people suffering from cystic fibrosis or for people who have loved ones suffering from the disease. Harris and Super divide the 129-page book into several
" (Karem et al., 1073) With an increased focus today on the genetic implications of the condition, enhanced abilities to understand the behaviors of human DNA are opening the door to a more perceptive response to the condition in question. As the text by Davis (1993) indicates, "as mutational analysis and patient data continue to be compiled, patient genotyping should prove useful in both prognosticating and providing a framework for evaluating
Cff.org/will each be the source of information and professional peer reviewed articles will be cited from these sources and identified by source as they cited. There is a wealth of available information, data and studies on CF. What it all means to the patients who suffer from this debilitating and life-threatening disease will be understood as this essay proceeds. Chapter One Diagnosis and the Anatomy and Physiology of a Life Threatening Disease: Cystic
However, treatments can be used to reduce, if not nearly completely diminish, symptoms and minimize any other complications. Here are the conditional means: Therapy: People with cystic fibrosis need a way to physically remove thick mucus from their lungs. This is often done by manually clapping with cupped hands on the front and back of the chest -- a procedure that's best performed with the person's head over the edge of
116). This point is also made by Goozner (2004) who suggests, "Even when a genetic flaw causes disease, it doesn't automatically mean that it can be treated by replacing the defective or missing protein with its biotechnologically created equivalent. Cystic fibrosis is the classic example" (p. 30). The treatment protocols that are currently in use are therefore designed to address the immediate symptoms of the condition, which in many cases
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