CYSTIC FIBROSIS

CASE SCENARIO
 A 3 years old girl who is a product of
consanguineous marriage has presented with
chronic diarrhea. She passes large , bulky, greasy
stools that are difficult to flush. She has been
admitted thrice in hospital due to pneumonia. On
examination she is malnourished and has finger
clubbing.
 CF is a multisystem autosomal recessive disorder
which occurs due to mutation in CFTR gene on
chromosome 7

 This disease presents as recurrent chest

infections & fat malabsorption
 CFTR is an ion channel for transport of chloride
ion across epithelial cell membranes

 CFTR is found in lungs,liver,GIT, pancreas,

reproductive tract & skin
PATHOPHYSIOLOGY
 CF affects the cells that produce mucus, sweat &
digestive juices. These secreted juices are
normally thin & slippery. But in people with CF,
a defective gene causes these juices to become
thick & sticky.
 Instead of acting as a lubricant , these secretions
plug up the tubes, ducts especially in the air
passages & pancreas
 CFTR gene mutation

Defective ion transport across the

cell

Increased Na & Cl are lost in the sweat & secretions are dried as
water follows salt movement
CLINICAL FEATURES
CLINICAL FEATURES
 Productive cough with thick large volume ,
viscous sputum

 Green coloured sputum ( pseudomonas)

 Nasal congestion, discharge, obstruction

 Fever, headache
 Steatorrhea ( diarrhea due to fat malaabsorption
is large volume oily greasy sticky and difficult to
flush)

 H/O recurrent dehydration

 H/O failure to thrive

 Family history of similar illness

EXAMINATION
 Malnourished child

 Increased AP diameter of chest or barrel shaped

chest

 CLUBBING

 Chest examination…. Rhonchi, crackles

 recurrent chest infections

 Chronic diarrhea clubbing

COMPLICATIONS
Respiratory Cor pulmonale
Pneumothorax
Bronchiectasis
Respiratory failure
Chronic sinusitis

GIT Deficiency of vitamin ADEK

Meconium ileus
Meconium peritonitis
Biliary cirrhosis
Endocrine Diabetes Melitus
Short stature

reproduction infertility in females

Sterility in males due to congenital obliteration of
vas derens

miscellaneous Dehydration
DIAGNOSTIC CRITERIA
 Presence of typical features
OR
H/O of CF in a previous sib
OR
 Positive newborn screening

 PLUS

 Lab evidence
 2 positive sweat chloride test

 Or 2 CF mutations identified
INVESTIGATIONS
LABS FOR RESPIRATORY
PATHOLOGY

 CXR

 HRCT chest……..high resolution Ct scan

 Culture of the sputum to identify pathogen

 ( Staph, pseudomonas,)

 Spirometry

 X ray para nasal sinuses

 BRONCIECTASIS IS THE HALLMARK
RADIOLOGICAL FINDING IN CF

 BRONCHIECTASIS MEANS ABNORMAL,

IRREVERSIBLE DILATATION OF BRONHI
 Parallel line opacities like tram line

 Ring opacities or cystic spaces

 Signet ring sign

 Compensatory hyperinflation of unaffected lung

areas

 Honey coomb appearance

 Over crowding of pulmonary vessels due to loss of
lung volume
LABS FOR PANCREATIC INSUFFICIENCY

 Serum trypsinogen levels

 Stool fat estimation

 Vitamin ADEK levels

LABS FOR DIAGNOSING CF

 Sweat chloride test

 CF gene mutation ( delta 508 mutation is most

common)
 New born screening

 Prenatal diagnosis
MANAGEMENT
GOALS OF MANAGEMENT

 Treat existing complaints

 Anticipate & treat complications

 Nutritional rehabilitation

 Genetic counselling
MULTI DISCIPLINARY APPROACH

 Paediatrician

 Neonatologist
 Paediatric surgeon
 Endocrinologist
 Pulmonolgist
 Nurse
 Physiotherapist
 Social worker
 psychologist
 :
ANTIBIOTICS For 2 weeks

Inhalational therapies N/S, ICS

Human recombinant
DNAse
N acetylcysteine
Chest physiotherapy 2-4 times/day
Pancreatic Ez lipase, amylase, protease
replacement
High cloric high protein
diet
Fat soluble vitamin ADEK
gene therapy
Lung transplant
SUMMARY
 Child with recurrent chest infections, chronic
diarrhea along with failure to thrive + finger
clubbing= CYSTIC FIBROSIS