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Cystic Fibrosis

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by

Zina Alkaisy

on 20 November 2015

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Transcript of Cystic Fibrosis

Autosomal recessive disorder

Most common among caucasians
(1 in 2500)

Multi-system

Caused by mutation in CFTR gene
- Chromosome 7
-codes for cAMP regulated chlorine channel
No mutation-CFTR transports Cl- across the membranes of cells, in the presence of cAMP and into the lumen on mucosal surfaces

Mutation- either CFTR gene does not allow Cl- ions to pass through it or is missing completely
Results in thick and sticky mucus
Presentation
In children 0-2:

Recurrent Infections
Large offensive stools
Failure to thrive
Digestive System
Respiratory System
Treatment 2
Treatment 1
Background
Clinical Presentation
Diagnosis & Treatment
Cystic Fibrosis
Thick mucous reduces air flow to alveoli
blocks bronchioles and reduces surface area for gaseous exchange
bacteria inhaled is trapped in mucus
body secretes antibodies into mucus to inactivate pathogens
However dehydrated surfaces of cells affected by CF lose natural antibacterial properties because WBC and their antibodies cannot function effectively in the thickened mucus.

pancreatic enzymes pass into the duodenum along pancreatic duct
Thin mucus is produced by the cells lining this tube
A faulty CFTR protein results in thick mucus production in the pancreatic duct, causing blockages so enzymes don't reach duodenum

This has two damaging effects:
1) digestive enzymes do not reach your gut resulting in malabsorption and so malnutrition
2) digestive enzymes trapped in the pancreas may digest and damage pancreatic cells
Could lead to diabetes if B cells are affected
Reproductive
women: produce fertile eggs but mucus can block the cervix so sperm cannot reach them
-oviducts may also be blocked making fertilisation even less likely
Men: infertile
-lack van deferens If the vas deferens is present, it may be blocked by mucus so that only a reduced number of sperm leave the testis.
Diagnosis
Sweat test: measure concentration of Na+ and Cl- ions

Elastase in faeces- low levels indicate pancreatic insufficiency

Guthrie test- immunoreactive tripsin raised in CF babies
-if positive, CF mutations tested for and sweat test carried out


Antibiotics for lung infections
-prophylactic agent and another in acute exacerbations
-Azithromycin

Mucolytics eg DNase

Hypertonic saline

Mannitol dry powder

oral pancreatic enzymes

PPIs

Bisphosphonates

Insulin

Diet- high calorie, fat & protein

Exercise

Physiotherapy

Gene therapy

Transplant surgery

Full transcript