Cystic fibrosis is an inherited disorder that affects the lungs and digestive system. It is caused by mutations in the CFTR gene that result in thick, sticky mucus buildup in organs. Symptoms include persistent lung infections, problems digesting food, and other issues. Treatment focuses on loosening mucus, treating infections, improving nutrition, and managing symptoms, though there is no cure currently. Screening at birth and ongoing testing monitors disease progression and treatment effectiveness.

2.  It is fundamentally a disorder of epithelial
transport affecting fluid secretion in exocrine
glands and the epithelial lining of the
respiratory , gastrointestinal and reproductive
system.
 Probability of occurrence of cystic fibrosis= 1
in 3200 live births (in USA).

3.  Hence, cystic fibrosis is the most common disease
that effect white population.
 It is uncommon among Asians (1 in 31,000 live
births ) and Africans (1 in 15,000 live births ).
 CF causes the mucus to be thick and sticky. The
mucus clogs the lungs, causing breathing
problems and making it easy for bacteria to grow.
This can lead to problems such as repeated lung
infections and lung damage.

4.  The thick mucous also lead to pancreatic
insufficiency.
 The symptoms and severity of CF vary widely.
 Some people have serious problems from
birth.
 Others have a milder version of the disease
that doesn't show up until they are teens or
young adults.

5.  Although there is no cure for CF, treatments have
improved greatly in recent years.
 Until the 1980s, most deaths from CF occurred in
children and teenagers.
 Today, with improved treatments, some people
who have CF are living into their forties, fifties, or
older.

6.  Cystic Fibrosis is also known as mucoviscoidosis.
 CF is an autosomal recessive disorder.
 It is caused by the presence of mutations in both
copies of the gene for the protein cystic fibrosis
transmembrane conductance regulator (CFTR).
 Those with a single working copy are carriers and
otherwise mostly normal.

7.  The primary defect in cystic fibrosis (CF) is
abnormal function of an epithelial chloride channel
protein encoded by the CF transmembrane
conductance regulator (CFTR) gene.
 CFTR gene is located at chromosomal locus
7q31.2.
 The changes in mucus are considered secondary to
the disturbance in transport of chloride ions.

8.  In a normal person’s epithelia transport of chloride
ions occurs through transmembrane proteins, such
as CFTR, that form chloride channels.
 Mutations in the CFTR gene render the epithelial
membranes relatively impermeable to chloride
ions.
 The impact of this disorder is tissue specific.

10.  The major function of the CFTR gene in sweat
glands duct is to reabsorb luminal chloride ions
and augment sodium reabsorption through the
epithelial sodium channel (ENaC).
 Therefore, in sweat ducts loss of CFTR results in
decreased reabsorption of sodium chloride and
production of hypertonic (salty) sweat.

11.  In contrast with that in the sweat glands, CFTR in
the respiratory and intestinal epithelium forms one
of the most important avenues for active luminal
secretion of chloride.
 Since the CFTR gene was cloned in 1989, more
than 1300 disease-causing mutations have been
identified.

12.  They can be classified as severe or mild
depending on the clinical phenotype.
 Severe mutations are associated with
complete loss of CFTR protein function.
 Mild mutations allow some residual function.

13.  The most common severe CFTR mutation is a
deletion of three nucleotides coding for
phenylalanine at amino acid position 508
(ΔF508).
 This causes misfolding and total loss of the
CFTR. Worldwide, ΔF508mutation is found in
approximately 70% of patients with CF.
 Since CF is an autosomal recessive disease,
affected persons harbor mutations on both
alleles.

14.  Symptoms at birth:
 Around 10% of babies with cystic fibrosis are born
with a serious bowel obstruction, known as
meconium ileus. This can make them very ill in
their first few days of life.
 All babies are born with meconium in their bowels
( a thick, black substance normally passed out of
the body a day or two after the birth) .

15.  However, in some babies with cystic fibrosis,
the meconium is too thick to be passed
through the bowels and causes a blockage.
 If a baby is born with meconium ileus, an
operation to remove the blockage will
probably be required.

16.  A few babies will also have symptoms
of jaundice (yellowing of the skin, eyes and
mucus membrane), which can last for a long
time.
 However, there are many other, more
common, causes of jaundice.

17.  It is common for people with cystic fibrosis to
experience persistent coughing as the body tries to
remove the thick mucus from the lungs. Sudden
coughing fits can occur, which sometimes lead to
vomiting.
 Inflammation in the lungs may cause wheezing,
shortness of breath and breathing difficulties,
particularly after exercise.

18.  The danger is that a person with cystic fibrosis
who has such an infection can pass it on to
another person with cystic fibrosis through close
personal contact or by coughing near them. This
is known as cross-infection.
 As more and more people with cystic fibrosis
become infected with these bacteria, the bacteria
may become resistant to antibiotic treatment,
which is why cross-infection is such a problem.

19.  Cystic fibrosis can cause mucus to block the
ducts in the pancreas. The pancreas produces
essential food-digesting enzymes.
 When it is blocked, not enough of the
enzymes reach the intestines to help break
down food, which can cause a number of
troublesome symptoms.

20.  Large, smelly stools
 Malnutrition
 Diabetes
 Ears, nose and sinuses
 People with cystic fibrosis can be prone
to sinusitis which may need to be treated with
nasal sprays or antibiotics.

21.  Some older children and adults develop nasal
polyps, which are fleshy swellings that grow
from the lining of the nose or sinuses. If they
become troublesome, they may need to be
treated with steroid nose drops or surgically
removed.

22.  Some older children with cystic fibrosis
develop a form of arthritis(swelling and pain
of the joints), usually in one or two large
joints such as the knee. In most cases,
symptoms improve with time and treatment.
 Older children and adults may also be prone
to thin bones, for many reasons, including
repeated infection, poor growth or weight,
lack of physical activity and lack of vitamins
and minerals due to digestive problems.

23.  This can cause joint pain and bones may
fracture (break) more easily. Some people need
to take drugs called bisphosphonates to help
maintain their bone density.
 Infertility
 Liver:
 In some people with cystic fibrosis, the tiny
bile ducts in the liver can become blocked by
mucus. This can be serious as the disease
progresses, and in some cases it may be
necessary to have a liver transplant.

24.  Incontinence:
 People with cystic fibrosis, especially females, are
more likely to have urinary incontinence (loss of
bladder control) as urine can leak out of the
bladder during coughing fits.
 This can often be treated with pelvic floor
exercises.

25. A. Newborn screening and diagnosis
B. Testing of older children and adults
 CFTR is involved in production of
sweat, digestive fluids, and mucus.
 When not functional usually thin secretions
become thick. The condition is diagnosed by
a sweat test and genetic testing.
 Screening of infants at birth take place in some
areas of the world.

26. Testing of older children and adults
 Imaging tests. Damage to your lungs or intestines
can be monitored with X-rays, CT scans and MRI.
 Lung function tests. These tests measure the size of
your lungs, how much air you can breathe in and
out, how fast you can breathe in and out, and how
well your lungs deliver oxygen to your blood.
 Sputum culture. Your spit (sputum) is analyzed for
bacteria.
 Organ function tests. Blood tests can measure the
health of your pancreas and liver. Children with
cystic fibrosis should be regularly tested for
diabetes after age 10.

27.  There is no cure for cystic fibrosis, but
treatment can ease symptoms and reduce
complications. Close monitoring and early,
aggressive intervention is recommended.
 The goals of treatment include:
o Preventing and controlling lung infections
o Loosening and removing mucus from the lungs
o Preventing and treating intestinal blockage
o Providing adequate nutrition

28.  Medications
◦ Antibiotics to treat and prevent lung infections
◦ Mucus-thinning drugs to help you cough up the
mucus, which improves lung function
◦ Bronchodilators to help keep your airways open by
relaxing the muscles around your bronchial tubes
◦ Oral pancreatic enzymes to help your digestive tract
absorb nutrients
 Chest physical therapy
◦ Inflatable vest, a device worn around the chest that
vibrates at high frequency
◦ Breathing devices, usually a tube or mask through
which you exhale while performing breathing
exercises

29.  Surgical and other procedures
o Endoscopy and lavage. Mucus may be suctioned
from obstructed airways through an endoscope.
o Bowel surgery. If a blockage develops in bowel,
may need surgery to remove it. Intussusception,
where a section of bowel has folded in on itself,
also may require surgical repair.