Cystic Fibrosis: An Overview
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Introduction
Cystic fibrosis (also called CF or mucoviscidosis) is an autosomal recessive genetic disorder that affects most critically the lungs, and also the pancreas, liver, and intestine. It is characterized by abnormal transport of chloride and sodium across an epithelium, leading to thick, viscous secretions.
The name refers to the characteristic scarring (fibrosis) and cyst formation within the pancreas that was first recognized in the 1930s. Difficulty in breathing is the most serious symptom and results from frequent lung infections which are treated with antibiotics, therapies and several other medications. Other symptoms, including sinus infections, poor growth, and infertility affect other parts of the body.
A breathing treatment for cystic fibrosis, using a mask nebulizer and a ThAIRapy Vest
A breathing treatment for cystic fibrosis, using a mask nebulizer and a ThAIRapy Vest
CF is caused by a mutation in the gene for the protein cystic fibrosis trans-membrane conductance regulator (CFTR). This protein is required to regulate the components of sweat, digestive juices, and mucus. CFTR regulates the movement of chloride and sodium ions across epithelial membranes, such as the alveolar epithelia located in the lungs. Although most people without CF have two working copies of the CFTR gene, only one is needed to prevent cystic fibrosis due to the disorder 's recessive nature. CF develops when neither gene works normally (as a result of mutation) and therefore has autosomal recessive inheritance.
CF is most common among Caucasians; one in 25 people of European descent carries one allele for CF. The World Health Organization states that "In the European Union, 1 in 2000–3000 new-borns is found to be affected by CF". Individuals with cystic fibrosis can be diagnosed before birth by genetic testing or by a sweat test in early childhood. Ultimately, lung transplantation is often necessary as CF worsens.
Introduction
Cystic fibrosis (also called CF or mucoviscidosis) is an autosomal recessive genetic disorder that affects most critically the lungs, and also the pancreas, liver, and intestine. It is characterized by abnormal transport of chloride and sodium across an epithelium, leading to thick, viscous secretions.
The name refers to the characteristic scarring (fibrosis) and cyst formation within the pancreas that was first recognized in the 1930s. Difficulty in breathing is the most serious symptom and results from frequent lung infections which are treated with antibiotics, therapies and several other medications. Other symptoms, including sinus infections, poor growth, and infertility affect other parts of the body.
A breathing treatment for cystic fibrosis, using a mask nebulizer and a ThAIRapy Vest
A breathing treatment for cystic fibrosis, using a mask nebulizer and a ThAIRapy Vest
CF is caused by a mutation in the gene for the protein cystic fibrosis trans-membrane conductance regulator (CFTR). This protein is required to regulate the components of sweat, digestive juices, and mucus. CFTR regulates the movement of chloride and sodium ions across epithelial membranes, such as the alveolar epithelia located in the lungs. Although most people without CF have two working copies of the CFTR gene, only one is needed to prevent cystic fibrosis due to the disorder 's recessive nature. CF develops when neither gene works normally (as a result of mutation) and therefore has autosomal recessive inheritance.
CF is most common among Caucasians; one in 25 people of European descent carries one allele for CF. The World Health Organization states that "In the European Union, 1 in 2000–3000 new-borns is found to be affected by CF". Individuals with cystic fibrosis can be diagnosed before birth by genetic testing or by a sweat test in early childhood. Ultimately, lung transplantation is often necessary as CF worsens.
Bibliography: 1. BIOLOGY TEXTBOOK FOR CLASS – XII (NCERT) 2. TRUEMAN’S BIOLOGY FOR CLASS – XII 3. SCIENCE REPORTER (September, 2007) 4. THE NEWYORK TIMES (December 22, 2009) 5. www.google.co.in/cysticfibrosis 6. en.wikipedia.org/wiki/Cystic_fibrosis 7. www.ncbi.nlm.nih.gov 8. www.cff.org/ 9. www.cysticfibrosis.com/ 10. www.cftrust.org.uk/