Cystic fibrosis

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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 [[Caucasin|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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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 ==
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== Approaches to Treatment ==
  
==== Lung Function ====
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==== Lung Function ====
  
[[Physiotherapy and mucolytics|Physiotherapy and mucolytics]]
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[[Physiotherapy and mucolytics|Physiotherapy and mucolytics]]  
  
Oral and Inhaled [[Antibotics|Antibotics]]
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Oral and Inhaled [[Antibotics|Antibotics]]  
  
[[Anti-Inflammatory|Anti-Inflammatory Drugs]]
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[[Anti-Inflammatory|Anti-Inflammatory Drugs]]  
  
[[Transplant|Lung Transplant]]
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[[Transplant|Lung Transplant]]  
  
[[Gene therapy|Gene Therapy]]
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[[Gene therapy|Gene Therapy]]  
  
[[Pharmacotherapy|Pharmacotherapy]]
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[[Pharmacotherapy|Pharmacotherapy]]  
 
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[[Alternative Channel Therapy|Alternative Channel Therapy]]
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[[Alternative Channel Therapy|Alternative Channel Therapy]]
  
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===== Pancreatic Function =====
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===== Pancreatic Function =====
  
[[Pancreatic Enzyme Replacement|Pancreatic Enzyme Replacement]]
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[[Pancreatic Enzyme Replacement|Pancreatic Enzyme Replacement]]  
  
 
Nutrional Regime
 
Nutrional Regime

Revision as of 11:42, 8 November 2010

Contents

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

Physiotherapy and mucolytics

Oral and Inhaled Antibotics

Anti-Inflammatory Drugs

Lung Transplant

Gene Therapy

Pharmacotherapy

Alternative Channel Therapy


Pancreatic Function

Pancreatic Enzyme Replacement

Nutrional Regime

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