MRCP UK EXAMINATIONS

RESPIRATORY

FIBROTIC LUNG DISEASE

Question [CLICK ON ANY CHOICE TO KNOW THE RIGHT ANSWER]
Cystic Fibrosis is caused by mutations in a gene called ____
A
CRTF
B
CTRF
C
CFTR
D
CFRT
Explanation: 

Detailed explanation-1: -Cystic fibrosis is caused by mutations in the gene that produces the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This protein is responsible for regulating the flow of salt and fluids in and out of the cells in different parts of the body.

Detailed explanation-2: -Using the CFTR2 Website In people with CF, mutations in the CFTR gene cause the CFTR protein to malfunction, leading to a buildup of thick mucus.

Detailed explanation-3: -Cystic fibrosis (CF) is a recessive genetic disease that is caused by mutations on both CFTR alleles, resulting in abnormal sweat electrolytes, sino-pulmonary disease, male infertility, and pancreatic exocrine insufficiency in 95% of patients [1, 2].

There is 1 question to complete.