Cystic FIbrosis

Question 1

CF Patients do not have affected

Answer 1

Brain, kidney

Basically everything else affected

Question 2

Gold standard for diagnosis of CF

Answer 2

Sweat test

Question 3

CFTR gene structure

Answer 3

Long arm of chromosome 7

Question 4

Mutations where we have therpaies that will help

Answer 4

G551D
R560T

Both type 3 where receptor does not get to the membrane

Question 5

Severe classes and moderate classes

Answer 5

1-3

4-6

Question 6

If you have delta 508 mutation and have another mutation, what determiens severity?

Answer 6

The other mutation…if class 1-3, then severe

***Need 2 severe mutations to have severe CF

Question 7

Class 2 CFTR

Answer 7

CFTR trafficking defect

Question 8

Frequency of deltaF508 mutation in caucasian

Answer 8

70%

Question 9

Male most sensitive CFTR organ

Answer 9

Vas deferens…leads to sterility

Question 10

CBAVD

Answer 10

Conginenital bilateral absence of the vas deferens (only need 10-15%)

Question 11

Least sensitive of organs to CF

Answer 11

Pancreas…just need a little functional CFTR…if hetero for deltaF508, then 98& are pancreatic insufficient

Question 12

Sweat chloride higher in which classes

Answer 12

1-3 = more severe

Question 13

Something that plays large role in survival of CF patients

Answer 13

Pancreatic sufficient live almost 2X as long (50 vs. 30)

Question 14

Other factor that could influence cystic fibrosis besides environmental

Answer 14

Could be little genetic difference in other genes

Question 15

CF is most common

Answer 15

Life shortening genetic dz in the Caucasian population

Question 16

Carriers for CF are

Answer 16

Quite healthy…may have a survival advantage…less likely to die from cholera and other types of GI dz

Question 17

Diagnosis of CF category 1

Answer 17

More than 1 typical phenotypic featurs

Sib with CF

Positive screenign test

Question 18

Diagnosis of CF cateogry 2

Answer 18

Elevated sweat twice

2 ID’d CFTR mutations

Abnormla nasal potential difference

Question 19

CF often mistaken for

Answer 19

Asthma

Question 20

IRT

Answer 20

Immuno reactant trypsin…elevated in infants with CF

Question 21

Most states do what kind of test

Answer 21

IRT/DNA

If IRT is elevated, send same spot of blood off and look at DNA for common mutations

Question 22

IRT/IRT didn’t work because

Answer 22

IRT can be elevated from high stress symptoms

Question 23

Common GI CF

Answer 23

Bowel obstruction (meconium ileus)

Question 24

Most CF patients die from

Answer 24

Lung dz

Question 25

Type of CF dehydration

Answer 25

Hypochloremic and hyponutremic dehydration