Cystic fibrosis Flashcards
Explain cystic fibrosis
Autosomal recessive disease (mutation in the CTFR gene)
* The gene codes for an epithelial chloride channel
* There are 1000 different types of mutations ont hat gene,that all lead to cystic fibrosis
* The mutation is important for the transport of ions in and out of the cell.
* The disturbed transport of water and electrolytes results in an abnormal viscosity (thick & stickyfluid) of all exocrine secretions.
* Occurs in many organs–lungs is most important–pancreas, liver, ovaries & sperm (causes infertility)
What are the symptoms of cystic fibrosis?
- Lungs – sinusitis/nasalpolyps and/or bronchial in fections
- Pancreas- Exocrine pancreas insufficiency (= PI = insufficient digestive enzymes) and/or endocrine PI
- Liver/gut–liver fibrosis and/or meconium ileus and/or constipation.
- Other–salt loss in sweat and/or male infertility
What are the first symptoms of cystic fibrosis
o Chronic or recurrent respiratory infections
o Weight stagnation
o A lot of crying and always hungry
o Steatorrhea
o Meconium ileus
o Signs of malabsorption
explain the pancreas’ exocrine function in relation to cystic fibrosis
» The exocrine function = provides enzymes for digestion
o The chloride channels are blocked or don’t work – this causes a build-up of thick mucus – this results in digestive enzymes being unable to pass through the membrane.
o This eventually results in less to no digestion & therefor having fats in stool.
explain the pancreas’ endocrine function in
» The endocrine function = create and release important hormones (insulin) directly into the bloodstream
* Insulin gets produced by Langerhans cells in the pancreas – due to the build up of mucus, those cells lose function – less insulin in blood – more sugar in blood = hyperglycaemia
* Results in diabetes mellitus
What are the early symptoms of TYPE I diabetes?
» Glycosuria
» Polydipsia
» polyurea
» weight loss - due to indigestion and fluid loss
» secondary enuresis = temporary bedwetting
glycosuria
lots of glucose and water in urine
polydipsia
excessive thirst
What are the later symptoms of TYPE I diabetes
» Ketoacidosis
» Deeper breathing, hyperventilating (for converting H+ into CO2 => less acid) - (often misdiagnosed pneumonia)
» Dehydration
» Abdominal pain (often misdiagnosed as appendicitis)
» Shock, coma due to acidic blood
What’s the treatment for TYPE I diabetes?
» Continuous insulin injections
» Distinguishing between hypoglycemia and hyperglycemia is difficult => always give a definite answer by giving a sugar cube, hypoglycemia will then disappear, hyper will not.
The lungs in regards to cystic fibrosis
Chronic, recurrent infections due to mucus accumulating in alveoli – breeding site for pathogens.
o Basic diseases (starts with recurring infections !!!!!)
o More intense; pseudomonas aeruginosa
Lung obstruction, progressive lung damage and destruction => bronchiectasis (bronchial bulges, lung cavities)
Discuss treatment for cystic fibrosis in regards to the lungs
EARLY TREATMENT?
o Antibiotics daily (to prevent bacteria from developing)
o Physiotherapy to remove tough mucus from the airways through certain movements, etc. o Airway clearance (e.g., aerosol) (2x daily)
TREATMENT IN SEVERE CASES?
o lung transplant, artificial respiration, …
o Due to chronic, progressive (destruction lungs irreversible) course it often leads to lung failure, earlier death
How do we diagnose cystic fibrosis?
Neonatal (newborn) screening
1. Genetic test – only for 2 most common mutations & for multiple other dangerous diseases, not just CF.
2. Sweat test – electrical stimulation of sweat glands – detects raised sweat chloride concentration.
Follow-up
o Clinical follow up to determine how far CF has evolved.
o Spirometry = measures the amount you can inhale & rate of exhalation
(The slower the rate of exhalation & volume – the more evolved)
o CT scan and X-rays to determine development of CF.
o Sputum samples (examines saliva)
Discuss treatment for cystic fibrosis
- Mucolytic medication – breaks mucus layer down
2.Techniques to excrete mucus from lungs (either with machines or without) - Antibiotics
4.Lung transplant
Evolution in treatments – more modern – gene therapy
o Previously mainly symptomatic treatment – now proactive avoidance of development by intervention at genetic/cellular level.
o Gene replacement/ protein produced by gene replacement.
o Modulations ion channel
What does the CTFR gene do
The gene codes for an epithelial chloride channel
it handles the transport of chloride ions out of the cell
What happens in a mutant CTFR channel?
chloride ions can’t elave the cell, causing a sticky mucus to build up on the outside of the cell
- causing a slimy “situation” in all organs, and being a perfect breeding environment for bacteria to grow
what are the percentage rates of the first symptoms
Chronic or recurrent respiratory infections = 50%
Weight stagnation = 40%
A lot of crying and always hungry
Steatorrhea (fatty diarrhoea) – fat that couldn’t be absorbed = 30%
Meconium ileus = 10%
Signs of malabsorption < 5%
pancreas enzyme treatment are given with every meal, what are the called?
creons
polyurea
excessive peeing
What’s the incidence rate of TYPE 1 diabetes in north europe
2/1000
its been increasing over the past years
what’s hypoglycemia and what are the symptoms
not enough sugar in blood
= most dangerous compared to hyperglycemia
= mood swings, headache, pale, tired, hungry, trembling, dizzy, sweating, poor vision
W
WHat’s hyperglycemia and what are the symptoms
too much sugar in blood
= drowsy, urinating, tired, thirsty, dry tongue.
meconium ilius
a bowel obstruction that occurs when the meconium in the child’s intestine is even thicker and stickier than normal meconium, creating a blockage in a part of the small intestine called the ileum.
meconium
the early stool passed by a new-born soon after birth
