Cystic Fibrosis

Description

Note on Cystic Fibrosis, created by Ellie Quinn on 31/05/2014.
Ellie Quinn
Note by Ellie Quinn, updated more than 1 year ago
Ellie Quinn
Created by Ellie Quinn over 10 years ago
473
0

Resource summary

Page 1

Average survival 37 years (getting better) Pulmonary disease, persistent infections Meconium ileus (in newborns) – blockage of the bowel Pancreatic insufficiency CFTR-related diabetes Liver disease Male infertility Reduced fertility in females F508 commonest mutationR117H - mild mutationNew drug Kalydeco only effective for G551D mutation - reverses the anomaly 

Diagnosis: guthrie’s test at birth – identifies homozygotes (not carriers!) If IRT is raised – test for 5 most common mutations Sweat test is still the gold standard for diagnosis

Pancreatic insufficiency – take crion Antibiotics 4 times a day Vitamins Physiotherapy Liver transplant Lung/Heart Transplant    

Autosomal recessive

Clinical features

diagnosis

management

inheritance

Show full summary Hide full summary

Similar

Pseudomonas areuginosa
Paula Ut
Biology- Genetic Disorders
Laura Perry
Topic 2- Genes and Health (Biology)
Nathan Butler
Acids and Bases
silviaod119
A2 Geography- Energy Security
sophielee0909
Biology Unit 1
anna.mat1997
B3- Science. Cells, Genes and Enzymes.
MissChurro
Chemistry unit 2
36jessieh
The Great Gatsby: Love
Shani Casey
Maths: Formulas for Areas & Perimeters of Shapes
Annan S