Cystic fibrosis - Sanjay Manohar's Medical Browser
Cystic fibrosis
external
Synonyms
CF
Causes
CTFR gene mutation
Caucasian
Anderson triad
Effects
Thick mucus
Cholelithiasis
High sweat sodium
Immunoreactive trypsin test
Burkholderia cepacia infection
Hyponatraemia
Bilateral parotid swelling
Primary testicular failure
Azoospermia
Secondary biliary cirrhosis
Low stool trypsin
Nasal polyp
Anderson triad
Parents
Autosomal recessive disorder
Fibrosis
Disease due to genetic mutation
Treatments
Guthrie test
Description
"delta F 508 gene mutation in 75% caucasians 7q21.3 CFTR gene = transmembrane chloride channel"
Type item name:
Sanjay Manohar
2006