MRCP UK EXAMINATIONS

RESPIRATORY

CYSTIC FIBROSIS

Question [CLICK ON ANY CHOICE TO KNOW THE RIGHT ANSWER]
Cystic fibrosis was first discovered in 1938 by Dorothy Andersen, but the CFTR (cystic fibrosis transmembrane conductance regulator) gene wasn’t discovered until 1989. Assuming that 3, 286 people had CF in 1938 and there were 937 new cases per year, how many people had cystic fibrosis when the CTFR gene was discovered?
A
50, 832
B
47, 787
C
48, 000
D
51, 073
Explanation: 

Detailed explanation-1: -It was during a routine autopsy on a child who was thought to have had celiac disease that Dr. Andersen noticed a lesion in the pancreas. Intrigued, she searched autopsy records and medical literature, and discovered a discrete disease pattern. She called this pattern cystic fibrosis.

Detailed explanation-2: -Caring for anyone with a long-term disease-especially if that person is your child-is stressful. Parents of children with cystic fibrosis are more likely to experience anxiety, depression, or both compared to parents in general.

Detailed explanation-3: -Cystic fibrosis (CF) was first recognized as a separate disease entity in 1938 when autopsy studies of malnourished infants distinguished a disease of mucus plugging of the glandular ducts, termed “cystic fibrosis of the pancreas, ‘’ from others with celiac syndrome (1).

Detailed explanation-4: -The CFTR gene itself was discovered in 1989 by a team of researchers led by Dr. Lap-Chee Tsui in Canada. It was, in fact, the first disease-causing gene to be identified in any disease, so this was one of the most significant breakthroughs in human genetics.

There is 1 question to complete.