Cystic fibrosis: Difference between revisions
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== Cystic Fibrosis == | == Cystic Fibrosis == | ||
Cystic Fibrosis is an [[Autosomal recessive disease|autosomal recessive disease]] located on [[Chromosome|chromosome]] 7. Cystic Fibrosis is caused by a mutation to the [[CFTR|CFTR]] ([[CFTR|Cystic Fibrosis Transmembrane Conductance Regulator]]) channel. The most common mutation is ΔF508, accounting for 70% of mutations in the [[ | Cystic Fibrosis is an [[Autosomal recessive disease|autosomal recessive disease]] located on [[Chromosome|chromosome]] 7. Cystic Fibrosis is caused by a mutation to the [[CFTR|CFTR]] ([[CFTR|Cystic Fibrosis Transmembrane Conductance Regulator]]) channel. The most common mutation is ΔF508, accounting for 70% of mutations in the [[Ethnicity|Caucasin]] UK population, in which the [[Codon|triplet code]] for the [[Amino acid|amino acid]] [[Phenylalanine|phenylalanine]] is deleted, disrupting Cl- transport. This mutation belongs to the Class II group of mutations causing Cystic Fibrosis. | ||
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Class V: [[Reduced Protein Synthesis|Reduced Protein Synthesis]] | Class V: [[Reduced Protein Synthesis|Reduced Protein Synthesis]] | ||
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== Approaches to Treatment == | == Approaches to Treatment == | ||
==== Lung Function ==== | ==== Lung Function ==== | ||
[[Physiotherapy and mucolytics|Physiotherapy and mucolytics]] | [[Physiotherapy and mucolytics|Physiotherapy and mucolytics]] | ||
Oral and Inhaled [[Antibotics|Antibotics]] | Oral and Inhaled [[Antibotics|Antibotics]] | ||
[[Anti-Inflammatory|Anti-Inflammatory Drugs]] | [[Anti-Inflammatory|Anti-Inflammatory Drugs]] | ||
[[Transplant|Lung Transplant]] | [[Transplant|Lung Transplant]] | ||
[[Gene therapy|Gene Therapy]] | [[Gene therapy|Gene Therapy]] | ||
[[Pharmacotherapy|Pharmacotherapy | [[Pharmacotherapy|Pharmacotherapy]] | ||
[[Alternative Channel Therapy|Alternative Channel Therapy]] | |||
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===== Pancreatic Function ===== | ===== Pancreatic Function ===== | ||
[[Pancreatic Enzyme Replacement|Pancreatic Enzyme Replacement]] | [[Pancreatic Enzyme Replacement|Pancreatic Enzyme Replacement]] | ||
Nutrional Regime | Nutrional Regime | ||
Revision as of 11:42, 8 November 2010
Cystic Fibrosis
Cystic Fibrosis is an autosomal recessive disease located on chromosome 7. Cystic Fibrosis is caused by a mutation to the CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) channel. The most common mutation is ΔF508, accounting for 70% of mutations in the Caucasin UK population, in which the triplet code for the amino acid phenylalanine is deleted, disrupting Cl- transport. This mutation belongs to the Class II group of mutations causing Cystic Fibrosis.
Classes of CFTR Mutations
Class I: Premature Stop Codons
Class II: Abnormal Processing
Class III: Altered Regulation
Class IV: Conductance Defect
Class V: Reduced Protein Synthesis
Approaches to Treatment
Lung Function
Oral and Inhaled Antibotics
Pancreatic Function
Nutrional Regime