Week 5 6th Feb, Cystic Fibrosis etc

Question 1

What is the simple definition of cystic fibrosis?

Answer 1

A disease where there is a mutation on chromosome 7, CFTR mutation, where sodium and chloride ions can’t cross the transmembrane conductance regulator protein because it is defective. This causes a sticky mucus to build up outside cells.
therefore also: reduced airway surface liquid- dehydration causes sticky mucus, which collects lots of bacteria. And this causes shearing. And impaired pancreatic function lots of the time. It’s a multisystemic disorder.

Question 2

Can both autosomal recessive and dominant disorders be single gene disorders?

Answer 2

yes both

Question 3

Is cystic fibrosis recessive or dominant?

Answer 3

recessive

Question 4

If you get one healthy allele, can the disease of CF manifest?

Answer 4

no

Question 5

Most common autosomal recessive disorder in caucasians?

Answer 5

Cf

Question 6

Different mutations can cause different diseases, and how many mutations are there

Answer 6

like 60 thousand

Question 7

One in how many caucasians carry CF

Answer 7

1 in 25

Question 8

Why does CF occur?

Answer 8

mutation in the ctrp transmembrane conductive regulator protein. Can’t conduct chloride ions across the channel, so these build up, causing sticky musucs. airway surfac eliquid reduced, dehydrated (sticky) and mucus also traps bacteria. leads to shearing. ipaired bacterial killing via neutrophils

Question 9

What does the CFTR is defective

Question 10

What causes the thick sticky mucus

Answer 10

dehydrated mucous layer

Question 11

what causes the shearing

Question 12

mucus collects lots of what

Question 13

How many classes of mutation are there

Question 14

commonest mutation?

Question 15

What are the 6 mutation classes based on

Question 16

which of the 6 classes cause severe disease, which cause milder disease

Question 17

In which class is the most common mutation, Delta F508

Question 18

when does antenatal testing occur

Question 19

when does diagnosis occur

Question 20

how does antenatal testing occur

Answer 20

cell removed from developing embryo, pre implantation, or when some cells is removed from placenta, or amniotic fluid is removed

Question 21

what’s neonatal screening, guthrie test

Question 22

what day is the guthrie test taken on

Answer 22

newborn bloodspot test is taken on day

Question 23

When can a sweat test occur

Question 24

what does a sweat test measure

Question 25

Sweat test in children, greater than what is considered abnormal

Question 26

sweat test of less than x millimoles per litre, in infant over 6 months, is probs not CF?

Question 27

Inconclusive sweat test if what values

Question 28

A combo of prenatal, antenatal and postnatal testing gives what three diagnostic outcomes

Question 29

What does spid mean

Question 30

CF can literally affect any system of the body true or false

Question 31

3 most common affects of having CF

Question 32

male infertility, pregnancy, delyaed puberty, constipation, coeliac disease, vasculitis- due to CF?

Question 33

male infertility, pregnancy, delyaed puberty, constipation, coeliac disease, vasculitis- due to CF?

Question 34

How does CFTR mutation affect the pancreas

Question 35

why important to record growth charts

Question 36

what type of chart is the first sign of CF in children

Question 37

which classes are pancreatic insufficient, vs some pancreatic function

Question 38

what percentage of CFTR function is sufficient to have pancreatic function, and be asymptomatic.

Question 39

which classes produce trypsin and colistin

Question 40

two most common presentations of CF throughout life?

Question 41

recurrent bronchopulmonary infections due to CF, what 4 things

Question 42

what’s happening with bronchiectasis

Question 43

what does bronchiectasis look like on an x-ray

Question 44

6 reasons why pulmonary infection occurs, because the CFTR abnormality causes:

Question 45

Why is it important to maintain airway surface layer?

Question 46

Simple recommendation to maintain airway surface area?

Question 47

Explain the vicious circle of events causing repeated respiratory infections when patient has CF

Question 48

Progressive respiratory decline doesn’t always occur, true or false

Question 49

would patients ever need a lung transplant?

Question 50

events leading up to lung transplant?

Question 51

Typical X-ray looks like

Question 52

Can you diagnose CF with X-ray alone

Question 53

CT shows what 4 things

Question 54

what are tram lines

Question 55

whats the signet ring

Question 56

Clubbing with CF?

Question 57

nail clubbing is sometimes the result of what, and is associated with what

Question 58

Are psychological issues common?

Question 59

Basically, how do we treat pancreatic insufficiency?

Question 60

Patients with CF can eat as much chocolate and sweets as they want to

Question 61

how do we replace enzymes in CF

Question 62

Management of diabetes in CF is different to management otherwise

Question 63

is insulin a benefit to cf diabetics, is oral drugs

Question 64

bone mineral density increases in patients with CF