GENETIC

DISEASE-
CYSTIC
FIBROUS 
Done By: Bhone Minn Khant 

               : Hnin Wai Lwin

               :Lin Thant Aung 

               :Phyo Theinka Kyaw

               : Phyu Sin Thant 

Yangon Students 
CONTENTS 

Introduction Inheritance of Causes of

to Cystic Cystic Cystic
Fibrous  Fibrous  Fibrous 

Diagnosis and
Symptoms of Management
Prognosis of
Cystic of Cystic
Cystic
Fibrous  Fibrous 
Fibrous 
INTRODUCTION
TO CYSTIC
FIBROUS 
 Cystic fibrosis is an inherited
disorder which damages severely to the
respiratory system, digestive system,
reproductive system and the sweat
glands.

 It is said to be the most common genetic

disease in the UK, affecting 10,000
people a year

 It affects the chloride transport  People with cystic fibrosis have mucus
systems of the exocrine glands which plugs up tubes, ducts and
where they won't function properly passageways instead of being the
leading to thick sticky mucus lubricant they are supposed to be
production
Inheritance of Cystic Fibrous 
 Inheritance of Cystic Fibrous 
• Cystic fibrosis is inherited in an autosomal recessive fashion, meaning that a person
must inherit two abnormal genes for the disease to develop. 
• When a person inherits one abnormal copy of the CFTR gene, he or she is a carrier. 
• But many people are carriers of this mutation without knowing it since they
are phenotypically normal.
Chance of passing CF to
another generation

o Each time two CF carriers have a child

together, the chances are:
 25%, the child will have CF 
 50%, the child will be a carrier but will
not have CF
 25%, the child will not be a carrier of
the gene and will not have CF.
o People with CF can also pass copies of
CFTR gene mutation to their children. If
someone with CF has a child with a CF
carrier, the chances are:
 50%, the child will have CF 
 50%, the child will be carrier but will
not have CF
In a family with four children, it is
possible that none of the children, some
of the children or all the children will
have CF. 
Each baby has the same chance to
inherit CFTR mutation from both
parents. 
When someone with CF has children
with a CF carrier, the children will
either be CF carriers or have CF. 
Causes of Cystic
Fibrous 
  Cystic fibrosis is caused by a change, or mutation, in a gene.

 Cystic fibrosis is a genetic disease and people with CF have

inherited two copies of the CF gene which is one copy from
each parent. Both parents must have at least one copy of the
CAUSES OF gene. People with only one copy of the gene do not have the
CYSTIC FIBROUS disease.
 Therefore, the only risk factor for getting CF is having two
parents who carry abnormal CFTR genes.
 Cystic fibrosis is very common in Europe. For example, in the
UK, about 1 person in 25 carries a faulty CF allele (roughly
around 2-3 million people).
Both parents must have at least one copy of the defective gene. People
with only one copy of the defective CF gene are called carriers, but they do
not have the disease.
That means there’s a chance you could pass it to your children.
SYMPTOMS OF CYSTIC FIBROUS 
 Signs and symptoms of Cystic Fibrosis vary,
depending on which organs are affected and the
severity of the disease.
 Commonly, it most affects the lungs.

SYMPTOMS OF
 Even in the same person, the symptoms may
worsen or improve as time passes.

CYSTIC
 Some people may not experience symptoms until
their teenage years or adulthood.
 Typically, cystic fibrosis manifests in early life such
as in newborns and infants.  FIBROSIS
 People with cystic fibrosis have a higher level of salt
in their sweat. 
 Parents often can taste the salt when they kiss their
children.
 The primary cause of morbidity or death in
people with cystic fibrosis is the progressive
lung disease, leading to the respiratory failure.
 This eventually begins as a
prolonged respiratory infection until treated
with antibiotics
 As the disease continue gradually, people tend
to have shortness of breath and a chronic
cough that produces the mucus
which is coughed up from the lower airways.
RESPIRATORY SIGNS AND SYMPTOMS

 The thick and sticky mucus associated with cystic fibrosis clogs

the tubes that carry air in and out of the lungs. This can cause
signs and  symptoms such as:
 A persistent cough that produces thick mucus

 Wheezing

 Exercise intolerance

 Repeated  lung infections

 Inflamed nasal passages or a stuffy nose

 Recurrent sinusitis
DIGESTIVE SIGNS AND
SYMPTOMS 
 The thick mucus can also block tubes that carry digestive enzymes from
the pancreas to the small intestine. Without these digestive enzymes, the
intestines cannot completely absorb the nutrients in the food we eat. The
result is often:
 Foul-smelling, greasy stools

 Poor weight gain and growth

 Intestinal blockage, particularly in newborns

 Chronic or severe constipation, which may include frequent straining

while trying to pass stool, eventually causing part of the rectum to
protrude outside the anus.
ENDOCRINE & INFERTILITY

 The pancreas contains making insulin, a hormone that helps regulating blood
glucose..
 Damage  to pancreas can lead to a type of diabetes to those with the disease.

 This cystic fibrosis-related diabetes shares characteristics of type 1 and type 2

diabetes.
 Infertility affects both men and women.

 In women, the mucus in the reproductive system changes through the menstrual

cycle and blocks the cervix so sperm can't reach it.
 Men with cystic fibrosis are often fertile because of the lack of the tube that
carries sperm out from the testis into the semen, causing no sperm, abnormally
shaped sperm and few sperm with poor motility.
 DIAGNOSIS I. SALTY SWEATS

AND II.GENETIC SCREENING

PROGNOSIS
      - AMNIOCENTESIS
      - CHRONIC VILLUS

OF CYSTIC FIBROSIS
SAMPLING
  Most people are diagnosed with CF at birth with newborn
screening or before 2 years of age. 
 However, if a doctor who sees the symptoms of CF will

HOW CYSTIC order a sweat test or a genetic test to confirm the diagnosis. 

FIBROSIS IS  To diagnose cystic fibrosis, doctors usually perform blood

tests, they may test sweat for high salt content which can
DIAGNOSED? indicate cystic fibrosis 
 If the diagnosis is confirmed, doctors may evaluate the
condition with a chest x-ray, chest or abdominal CT or MRI,
abdominal ultrasound or sinus CT. 
  Without functioning CFTR proteins in the sweat
glands, it prevents sodium from being reabsorbed
into cells and causes chloride to accumulate in
the sweat ducts. 
SALTY SWEAT /  As the excessive amounts of sodium and chloride
get pushed close to the surface of the skin, they
SWEAT CHLORIDE combine to form salt. The level of accumulation

TEST
on the skin-the chloride content- can be used
diagnostically to confirm CF. 
 Cystic fibrosis is first noticed in infants when the
parents comment the baby tastes salty when they
kiss it. 
HOW SWEAT TEST IS PERFORMED

 Two electrodes are placed on the skin, one of which contains a disc with a
sweat-inducing gel called pilocarpine. 
 A small electrical current is delivered through the electrodes causing mild
tingling sensation but little to no discomfort. 
 The current is shut off and the electrodes are removed after 10 mins. The
skin is cleaned, and a piece of filter paper is applied to the area. 
 The patch is removed and sent to the lap for evaluation after 30 to 45 mins. 
INTERPRETATION OF SWEAT TEST RESULTS 

For children and adults, the diagnostic ranges are: 

Negative: less than 30 mmol/L ~ Cystic Fibrosis is unlikely regardless of

age. 

Borderline: between 30 and 59 mmol/L ~ Cystic Fibrosis is possible and

needs additional tests.

Positive: 60 mmol/L or greater ~ Cystic Fibrosis is likely. 

GENETIC TEST 

The standard genetic test, called the

ACMG/AGOG panel is designed to detect
the 23 most common CFTR mutations. The
There are so many different CTFR mutation,
mutations were selected based on the joint
so there is no single test able to detect all
recommendation of the American College of
variations. 
Medical Genetics and Genomics
(ACMG)American College of Obstetricians
and Gynecologists (ACOG) 
How Genetic Test Is Performed And Interpretation Of Results

How the Test is performed  Interpreting the Results 

 It is usually performed on a blood sample but may  Positive results means that you have two copies of the CFTR
be done by taking a swab of cells from the inside of mutation and have cystic fibrosis. 
your cheek.   Based on the types of mutations, the test may also be used to
 Results are usually received within three to five predict how serious the disease may be. 
working days .   If you inherit 2000-plus CTFR mutation and deltaf508
 Two types of genetic tests - (i) Amniocentesis  mutation, you will have a greater respiratory obstruction,
thicker mucus discharge and a poorer functioning pancreas. 
    - (ii) Chorionic Villus -                                       
Sampling
  About 20cm3 of amniotic fluid
is removed using a syringe and
needle at 16th week of
pregnancy. 
AMNIOCENTESI  Fetal epithelial cells and blood
S cells are recovered by spinning
it in a centrifuge.
 The cells are cultured for 2-3
weeks.
 Genetic defects and sex of the
baby can be determined.
  It can only be carried out relatively late in
pregnancy making it difficult for parents
if termination is necessary. 
 Results are not available until 2-3
DISADVANTAGES weeks after the test. 
OF AMNIOCENTESIS  0.5 - 1% risks of spontaneous abortion.
CHORIONIC VILLUS SAMPLING

 A sample of embryonic tissue is taken from the placenta. 

 There is a bigger sample of fetal tissue available for examination. 

 Diagnostic can be carried out much earlier in the pregnancy.

 Results are available faster than amniocentesis. 

DISADVANTAGES OF CHORIONIC VILLUS
SAMPLING

 0.5 - 1% risk of spontaneous abort.

 Paternal X chromosomes are inactivated in fetal placenta cells,

so genetics deformities on that chromosome are indetectable. 
  Most children with CF stay in good health until they
reach adulthood. They are able to take part in most
activities and attend school. Many young adults with
CF finish college or find jobs. 
Prognosis of  Lung disease eventually worsens to the point where the
Cystic Fibrous  person is disabled. 
 The average life span for people with CF who live to
adulthood is about 44 years. 
 Death is most often caused by lung complications.  
MANAGEMENT
OF CYSTIC
FIBROSIS 
 Antibiotics to treat and
prevent lung infections
 Medications that target gene
mutations including a new
medicine that combines three
drugs 
 Anti-inflammatory medications
to lessen swelling in the
airways in your lungs
 Inhaled medications called
bronchodilators that can help
keep your airways open 
 Stool softeners to prevent
constipation or bowel
obstruction 
 Oral pancreatic enzymes to
help your digestive tract
absorb nutrients 
THANK YOU FOR YOUR ATTENTION