Week 5 6th Feb, Cystic Fibrosis etc Flashcards
What is the simple definition of cystic fibrosis?
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.
Can both autosomal recessive and dominant disorders be single gene disorders?
yes both
Is cystic fibrosis recessive or dominant?
recessive
If you get one healthy allele, can the disease of CF manifest?
no
Most common autosomal recessive disorder in caucasians?
Cf
Different mutations can cause different diseases, and how many mutations are there
like 60 thousand
One in how many caucasians carry CF
1 in 25
Why does CF occur?
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
What does the CFTR is defective
What causes the thick sticky mucus
dehydrated mucous layer
what causes the shearing
mucus collects lots of what
How many classes of mutation are there
commonest mutation?
What are the 6 mutation classes based on
which of the 6 classes cause severe disease, which cause milder disease
In which class is the most common mutation, Delta F508
when does antenatal testing occur
when does diagnosis occur
how does antenatal testing occur
cell removed from developing embryo, pre implantation, or when some cells is removed from placenta, or amniotic fluid is removed
what’s neonatal screening, guthrie test
what day is the guthrie test taken on
newborn bloodspot test is taken on day
When can a sweat test occur
what does a sweat test measure
Sweat test in children, greater than what is considered abnormal
sweat test of less than x millimoles per litre, in infant over 6 months, is probs not CF?
Inconclusive sweat test if what values
A combo of prenatal, antenatal and postnatal testing gives what three diagnostic outcomes
What does spid mean
CF can literally affect any system of the body true or false
3 most common affects of having CF
male infertility, pregnancy, delyaed puberty, constipation, coeliac disease, vasculitis- due to CF?
male infertility, pregnancy, delyaed puberty, constipation, coeliac disease, vasculitis- due to CF?
How does CFTR mutation affect the pancreas
why important to record growth charts
what type of chart is the first sign of CF in children
which classes are pancreatic insufficient, vs some pancreatic function
what percentage of CFTR function is sufficient to have pancreatic function, and be asymptomatic.
which classes produce trypsin and colistin
two most common presentations of CF throughout life?
recurrent bronchopulmonary infections due to CF, what 4 things
what’s happening with bronchiectasis
what does bronchiectasis look like on an x-ray
6 reasons why pulmonary infection occurs, because the CFTR abnormality causes:
Why is it important to maintain airway surface layer?
Simple recommendation to maintain airway surface area?
Explain the vicious circle of events causing repeated respiratory infections when patient has CF
Progressive respiratory decline doesn’t always occur, true or false
would patients ever need a lung transplant?
events leading up to lung transplant?
Typical X-ray looks like
Can you diagnose CF with X-ray alone
CT shows what 4 things
what are tram lines
whats the signet ring
Clubbing with CF?
nail clubbing is sometimes the result of what, and is associated with what
Are psychological issues common?
Basically, how do we treat pancreatic insufficiency?
Patients with CF can eat as much chocolate and sweets as they want to
how do we replace enzymes in CF
Management of diabetes in CF is different to management otherwise
is insulin a benefit to cf diabetics, is oral drugs
bone mineral density increases in patients with CF
