Cystic Fibrosis
What is Cystic fibrosis?
Cystic fibrosis (CF), a rare, progressive, life-threatening
disease, results in the formation of thick mucus that builds up
in the lungs, digestive tract, and other parts of the body. It
leads to severe respiratory and digestive problems as well as
other complications such as infections and diabetes.
How does it occur?
Cystic fibrosis is a genetic disease caused by defects in
the cystic fibrosis transmembrane conductance regulator
(CFTR) gene that encodes for CFTR protein. The severity of
the disease depends upon the type of defect in the gene and
resultant deficiency and dysfunction of CFTR protein. Delta F
508 is the commonest gene defect identified .
Cystic fibrosis is autosomal recessive disease. People with
CF inherit two copies of the defective CF gene one copy from
each parent. People with only one copy of the defective CF
gene are called carriers, but they do not have the disease.
Each time two CF carriers have a child, the risk of CF will be 25
percent (1 in 4).
What are the problems with this disease?
People who have cystic fibrosis make thick, sticky mucus
that can build up and lead to blockages, damage, or
infections in the affected organs. Inflammation also
causes damage to organs such as the lungs and
[Link] presentation may be very early in neonatal
period or in early infancy with bowel obstruction for which
emergency surgery may be needed. The common
presenting clinical features are shown in box and figure
below
i) Salty-tasting skin
ii) Persistent
coughing, at times
with phlegm
iii) Frequent lung
infections including
pneumonia or
bronchitis
iv) Wheezing or
shortness of breath
v) Poor growth or weight
gain inspite of a good
appetite
The long term complications of cystic fibrosis may affect the
function of lungs, liver, pancreas, intestine, kidney, urinary
bladder, bones and reproductive organs. It may cause male
infertility.
Diagnosis
Newborn screening
Sweat chloride test
Genetic testing
What are the treatment options?
Supportive therapy: As of now, diverse medications are used
that have the purpose of loosening mucus, expanding airways,
decreasing inflammation, and fighting lung infections,
improving digestion
respectively to relieve the symptoms of CF for healthier and
meaningful life,
i) Pancreatic enzymes replacement
ii) Vitamin and salt supplementation
iii) Airway clearance using bronchodialators,
mucolytic agents and various techniques
including devices
iv) Steroid inhalers
v) Antibiotics
vi) Recombinant human DNase I (rhDNase I)
inhalation
Is this disease completely curable?
Though there is no definite cure, with over 6-7 decades of
research survival has improved from a median of 6 months to
4-5 decades, with enzymes, airway clearance, antibiotics and
other supportive care. The prognosis for CF has improved due
to earlier diagnosis through screening and better treatment and
access to healthcare. The ongoing clinical trials with newer
molecules may bring new rays of hope in the life of children
suffering from this fatal and debilitating disease.
What happens if the CF patients are left untreated?
If the patients are left untreated they develop progressive
deterioration of lung function and respiratory failure also.
Prevention
Families having affected children are encouraged to consult
a clinical geneticist for counseling and prevention of
recurrence in future pregnancies.
Mutation
Research has identified more than 1800 mutations.
Mutations are grouped into the following ccategorie based
on how they mutate the CFTR gene
Nonsense or stop
Gating
Protein processing
Others
Nutrition and Cystic Fibrosis
1. High Caloric Diet to meet increased energy needs
due to
Increased energy expenditure
Decreased intake
Maldigestion and malabsorption
CF-related Diabetes
2. Pancreatic Enzyme Replacement Therapy (PERT)
Dosing based on lipase/kg/meal
3. Fat-soluble multi-vitamin in a water miscible form
Take with enzymes and food for max absorption
AQUADEK
4. Salt Supplementation
1/8th tsp to meet needs from birth-6 months
1/4th tsp to meet needs from 6-24 months
24 months and older,dietrich in salt
Case study
Background
Yashasvi M. Patel is a 9.8 months old female
Past medical history : CF (1421-deletion) diagnosed at
4 months . Psedumononas PNA hospitalization from
29/7/14-11/9/14 with respiratory failure during
incubation
Admitted on 20/1/15: presented with 1 week of
posttussive emesis and increased work of breathing.
Mother reports poor appetite for 4 days
PICU transfer on this admission for severe metabolic
insufficiency (hypoatremia, hypokalemia,
hypochloremia)
Past medical course & Diagnosis
Yashasvi presents to PICU at 3 months 26 days with
severe hypoatremia of unknown etiology with weight
loss and severe dehydration.
Clinical symptoms continued to worsen, weight
decreased regardless of nutrient intake
Suspected cystic fibrosis with conflicting results
2 inconclusive sweat tests due to lack of sweat
Positive NBS
Full gene sequencing of CFTR gene , finally diagnosed
Recommendations
Similac advance 26 kcal/oz
Creon 3000, 3 caps with each feed
Aquadek 1ml/day
1/8 tsp of salt daily
Monitor daily weight, goal 25-35 g/day for catch up
growth
Monitor stools
Bibliography
[Link]
[Link]
[Link]/gene/CFTR
