1. Cystic fibrosis is a genetic disorder that affects the lungs and digestive system, causing thick, sticky mucus to build up. 2. The disorder involves a mutation in the CFTR gene which results in the malfunction of chloride channels in epithelial cells. 3. Symptoms often appear in childhood and include salty-tasting skin, poor growth/weight gain, frequent lung infections, and thick mucus in the lungs and pancreas.

1. PRESENTED BY:
A.PRIYADHARSHINI M.Sc(N),
LECTURER,
JAI INSTITUTE OF NURSING AND
RESEARCH,
GWALIOR.

2. It is an autosomal recessive genetic
disorder that affects most critically
the lungs, and also the pancreas, liver,
and intestine. It is characterized by
abnormal transport
of chloride and sodium across an epithelium,
leading to thick, viscous secretions

3.  It is most common in causcasians with an
incidence of 1 in 2500 children born in the
U.K.
 It is extremely rare in India.
 The incidence in migrant Indian populations
in the UK and USA has been estimated to be
1 in 1000 population.
 Cystic fibrosis is diagnosed in males and
females equally.

5.  The basic defect in CF is a mutation in the
gene for chloride conductance channel i.e.
cystic fibrosis transmembrane conductance
regulator (CFTR).
 The failure of chloride conductance by
epithelial cells leads to dehydration of
secretions that are too viscid and difficult to
clear.

8.  Salty tasting skin
 Poor growth
 Poor weight gain despite a normal food
intake
 Accumulation of thick, sticky mucus
 Frequent chest infections
 Coughing
 Shortness of breath
 Males can be infertile due to congenital
absence of the vas deferens

9.  Symptoms often appear in infancy and
childhood, such as bowel obstruction due
to meconium ileus in newborn babies.
 In rare cases, cystic fibrosis can manifest
itself as a coagulation disorder.Young
children are especially sensitive to vitamin
K malabsorptive disorders because only a
very small amount of vitamin K crosses the
placenta, leaving the child with very low
reserves.

11.  Newborn screening
 Sweat testing
 Genetic testing

12.  The newborn
screen initially
measures for
raised blood
concentration
of immunoreactive
trypsinogen.

14.  Sweat-testing involves application of a
medication that stimulates sweating
(pilocarpine).
 The resultant sweat is then collected on
filter paper or in a capillary tube and
analyzed for abnormal amounts
of sodium and chloride.
 People with CF have increased amounts of
sodium and chloride in their sweat.

15.  It is the direct
examination of
DNA molecule of
the affected
child..

16.  No cures for cystic fibrosis there are several
treatment methods.
 Supportive treatment has to be given based
on the signs and symptoms.

17.  Many CF patients are on one or
more antibiotics at all times, even when
healthy, to prophylactically suppress
infection.
 Inhaled therapy with antibiotics such as
tobramycin, colistin, and aztreonam is often
given for months at a time to improve lung
function by impeding the growth of colonized
bacteria.
 Oral antibiotics such as ciprofloxacin
or azithromycin are given to help prevent
infection or to control ongoing infection.

18.  Chest physiotherapy (CPT)
 The "Vest Airway Clearance System", a form
of chest wall oscillation, is a device and
system for clearing excess mucus from lung
airways. (ThAIRapy Vest)
 Intrapulmonary percussive ventilator (IPV)
 Aerosolized medications that help loosen
secretions include dornase
alfa and hypertonic saline.[
 Bilevel positive airway pressure (BiPAP)
 Lung transplantation

21.  Halotherapy is the
use of salt vapor
to treat
respiratory
ailments, skin
irritations, and
combat mental
lethargy.

22.  Diabetes is the most common non-pulmonary
complication of CF. It mixes features of type
1 and type 2 diabetes.
 cystic fibrosis-related diabetes (CFRD). While
oral anti-diabetic drugs are sometimes used,
the only recommended treatment is the use
of insulin injections or an insulin pump.
 Dietary restrictions are not recommended.

23.  Treatment of pancreatic insufficiency by
replacement of missing digestive enzymes
allows the duodenum to properly absorb
nutrients and vitamins that would otherwise
be lost in the feces.

24.  Development of osteoporosis can be
prevented by increased intake of vitamin D
and calcium, and can be treated
by bisphosphonates.

25.  Poor growth may be avoided by insertion of
a feeding tube for increasing calories through
supplemental feeds or by administration of
injected growth hormone.

26.  Female infertility may be overcome
by assisted reproduction technology,
particularly embryo transfer techniques.
 Male infertility caused by absence of the vas
deferens may be overcome with testicular
sperm extraction(TEST), collecting sperm
cells directly from the testicles.
 Third party reproduction is also a possibility
for women with CF.

27.  The prognosis for cystic fibrosis has improved
due to earlier diagnosis through screening,
better treatment and access to health care.

28.  Bronchiectasis
 Chronic infections
 Nasal polyps
 Pneumothorax
 Atelectasis
 Respiratory failure
 Nutritional defeciencies
 Diabetes
 Intussusception
 Rectal prolapse

29.  Pancreatic insufficiency
 Infertility
 Osteoporosis
 Electrolyte imbalance

30. THANK YOU