L7 - Respiratory Channelopathies Flashcards Preview

BMS242 CVS Phys > L7 - Respiratory Channelopathies > Flashcards

Flashcards in L7 - Respiratory Channelopathies Deck (66)
Loading flashcards...
1

Give an example of a respiratory channelopathy

Cystic fibrosis

2

CF inheritance pattern

Autsomal recessive

3

What is the main effect of CF

Alters electrolyte transport

4

How many born with

1 in 2500

5

How many are carriers

1 in 20

6

Describe the effect on the airways

Clogging and infections
Increased incidence of persistent respiratory tract infections -- symptoms multiplied

7

How many experience airway effects `

Mostly all

8

Effects on the liver

Blockages of the small bile ducts
Liver function problems

9

How many experience liver effects

Around 5%

10

Effects on the pancreas

Blockages of the ducts
Prevention of the secretion of digestive enzymes: prevents digestion of food - lack of weight being put on

11

How many experience pancreas effects

Around 65%

12

Effects on the small intestine

Obstruction due to thick contents - operation required for removal - then expect episodes during the life

13

What percentage of newborn CF require an operation on the small intestine

10%

14

Effects on the reproductive tract

Infertility in males due to absence of the Vas Deferens
Small number of issues in women

15

How many male CF sufferers are infertile

95%

16

Effect of CF on the skin

Excess secretion of NaCl through the sweat galnds

17

What is the name for small intestine obstruction

Meconium Ileus

18

How many faulty copies of the gene required for disease phenotype

2

19

How much protein do the carriers produce

1/2

20

Is half the ammount of CFTR sufficient for normal phys function

Yes

21

CFTR is a ___ channel

Cl-

22

Direction of the CFTR depends on

The cell type

23

What does NBD stand for

Nucelotide binding domain

24

How many NBDs

2

25

What binds to the NBDs

ATP

26

What are the NBDs involved in

Regulation

27

How many CFTR transmembrane domains

12

28

What is the regulatory domain

A phosphorylation site where the ATP is hydrolysed

29

How many mutations are capable of causing CF

1900

30

70% of mutations are

Delta F508