Cystic fibrosis

Question 1

Explain cystic fibrosis

Answer 1

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)

Question 2

What are the symptoms of cystic fibrosis?

Answer 2

• 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

Question 3

What are the first symptoms of cystic fibrosis

Answer 3

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

Question 4

explain the pancreas’ exocrine function in relation to cystic fibrosis

Answer 4

» 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.

Question 5

explain the pancreas’ endocrine function in

Answer 5

» 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

Question 6

What are the early symptoms of TYPE I diabetes?

Answer 6

» Glycosuria
» Polydipsia
» polyurea
» weight loss - due to indigestion and fluid loss
» secondary enuresis = temporary bedwetting

Question 7

glycosuria

Answer 7

lots of glucose and water in urine

Question 8

polydipsia

Answer 8

excessive thirst

Question 9

What are the later symptoms of TYPE I diabetes

Answer 9

» 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

Question 10

What’s the treatment for TYPE I diabetes?

Answer 10

» 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.

Question 11

The lungs in regards to cystic fibrosis

Answer 11

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)

Question 12

Discuss treatment for cystic fibrosis in regards to the lungs

Answer 12

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

Question 13

How do we diagnose cystic fibrosis?

Answer 13

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)

Question 14

Discuss treatment for cystic fibrosis

Answer 14

1. Mucolytic medication – breaks mucus layer down
   2.Techniques to excrete mucus from lungs (either with machines or without)
2. 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

Question 15

What does the CTFR gene do

Answer 15

The gene codes for an epithelial chloride channel
it handles the transport of chloride ions out of the cell

Question 16

What happens in a mutant CTFR channel?

Answer 16

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

Question 17

what are the percentage rates of the first symptoms

Answer 17

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%

Question 18

pancreas enzyme treatment are given with every meal, what are the called?

Answer 18

creons

Question 19

polyurea

Answer 19

excessive peeing

Question 20

What’s the incidence rate of TYPE 1 diabetes in north europe

Answer 20

2/1000
its been increasing over the past years

Question 21

what’s hypoglycemia and what are the symptoms

Answer 21

not enough sugar in blood
= most dangerous compared to hyperglycemia

= mood swings, headache, pale, tired, hungry, trembling, dizzy, sweating, poor vision

Question 22

W

WHat’s hyperglycemia and what are the symptoms

Answer 22

too much sugar in blood

= drowsy, urinating, tired, thirsty, dry tongue.

Question 23

meconium ilius

Answer 23

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.

Question 24

meconium

Answer 24

the early stool passed by a new-born soon after birth

Question 25

Steatorrhea

Answer 25

= fatty diarrhoea - fat that couldn’t be absorbed

Question 26

what’s (possible) treatment of cystic fibrosis in relation to the endocrine function of the pancreas

Answer 26

• Pancreas enzyme supplements with every meal - Calorie - rich, fat rich meals
• Vitamin supplements ADEK

Question 27

secondary enuresis

Answer 27

temporary bedwetting

Question 28

Ketoacidosis

Answer 28

ketones (breakdown product glucose) are acidic, causing body to become more acidic – dangerous.

Question 29

Spirometry

Answer 29

measures the amount you can inhale & rate of exhalation
(The slower the rate of exhalation & volume – the more evolved the cystic fibrosis)