Cystic Fibrosis

:General observations

- Growth parameters: Wasted – reduce muscle bulk , reduce subcutaneous fat.

- Equipments Around the bed : oxygen supplementation /Pancreatic tab /
sputum pot / nebulizer / peak flow meter /centeral line (port cath ) or
gastrostomy tube .
- No dysmorphic features.
- Status : ill/well-distress or not .

:Hands

- Clubbed .
- +/- Cyanosed (peripheral and central).
- Pulse
- RR.

Eyes:

- Palor
- Jaundice

Mouth:

- Central cyanosis
- Offensive odour.

Chest:

Inspection:

- Porta cath / gastrostomy tube in abdomen .

- tachypnoea
- Scars :thoracotomy
- Hyper-expanded Chest

: Palpation

- Apex beat in place

Auscultation:

- Creps , wheeze.

Inorder to continue examination:

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 - Back of chest
- Abdominal examination:
o Inspection: scar ( meconium illeus ) , gastrostomy , caput medusa
o Palpation : hepatosplenomegaly , palple fecal mass (distal intestinal
obstruction syndrome).
o Percution : ascites.
o Other : rectal prolapsed.

To complete examination :

- To plot height and weight in appropriate growth chart.

- Measure his PEFR
- CVS : signs of right heart failure secondary to pulmonary HTN.
- Joints - ankle and knee : arthritis (1% due to circulating immune complex ).
- Look for insulin inj. sites

discussion

What is the cystic fibrosis ?

- It is a multisystem disorder charcterise by dysfunction of exocrine gland

resulting in chronic suppurative lung disease , malabsorption , chronic liver
disease and infertility.

What you can tell about genetic of cystic fibrosis ?

- A.R(Ch—7 ).
- Carrier. risk = 1/25
- Abnormal Cystic Fibrosis Trans membrane conductance Regulator (C.F.T.R.) ( c
AMP mediated chloride channel dysfunction ) causing inability to secrete
chloride , sodium and water from cells lining airway into airway lumen ,
leading to viscid secreation (in lungs , pancrease , biliary tract and
reproductive tract.) and opposite occurring in skin , chloride can't enter the
cell (leading to increase high sweat chloride ).
- δ F508 gene (common mutation –deletion of single phenylalanine – 75%).

How can we diagnose CF ?

- Antenatal chorionic villous sampling (@ 8 – 10 week) , aminocentesis (@ 16 –

18 week) for gene analysis (if family history of CF)
- Neonatal screening (not diagnostic) of C.F. is by:
 Guthrie test looking for Immuno reactive Trypsin (I.R.T.)⤍ reflect
Pancreatic enzyme defect.
 Stool for …..reflect pancreatic enzyme defect.

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 - Genetic analysis : need 2 mutation of CFTR gene . used for :
 diagnosed cases ( to provide more information on geno/phenotype).
 To confirm diagnosis when sweat test is equivocal."40-60".
- Sweat Test.: (definitive diagnosis) using pilocarpine iontophoresis.:
 Test positive when 2 sweat chloride conc. < 60 mmol/l
 Borderline …….40-60 ( if 2test borderline …..do gentic analysis)
 Normal if less than 40
- Others test :
 CBC , LFT , sputum C/S ,
 chest X-ray to radiologically grading lung disease (if more than 20
indicate severe disease according to norman scoring system).
 abdominal x-ray.

Criteria of diagnosis: criteria A + B :

- Criteria (a) CF finding , any of the following :

 Positive family history , or
 Positive neonatal screen ,or
 Typical clinical features of CF.(FTT, recurrent chest infections ,
meconium ilus )
(Plus )
- Criteria ( b ) lab evidence for CFTR dysfunction ,any of the following :
 2 Positive sweat test , or
 2 CFTR gene mutations , or
 Positive abnormal nasal potential difference "NPD".

Management of cystic fibrosis :

multidisciplinary approach with aim of prevent progression of lung disease ,

maintain adequate nutrition and growth :

A. Pediatrician and physiotherapist for Respiratory management :

1. Peaditrician for prescribe :
 Antibiotic ttt : for acut Chest Infection , and prophylactic : they may
give every 3 month and (for this u may found PORT CATH)
 Staph- colonization(comm. In infant) ⤍ Flucloxacillin
 Pseudomonas colonization (comm. In children) ⤍ Nebulized
Tobramycin / Colomycin
 acute infection …….oral ciprofloxacin or (iv ceftazidime +gentamycin)
 Nebulized and inhaler treatment :
 Neb. DNase to digest viscous DNA fragments.

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  Neb. Hypertonic Saline : reduce the viscosity of secretions.
 Inhaled bronchodilater and inhaled steroids
2. Physiotherapist for :
 Physiotherapy of chest.(twice daily )
 Postural drainage .
 percussion and vibration technique.
 Exercise to strength the muscle and prevent re accumulation of
secretion.

B. Nutrition support ( by Dietien ) include :

- Nutrition → High Calorie & Protein. - NGT/gastrostomy tube can be
used.
- Pancreatic enzyme supplements (pancreatin= protease + amylase +
lipase ). + omeprazole for better work of pancreatic enzyme.
- Supplementation of Vit- A.D.E. and vit K (if prolong PT).

C. Psychological support : for patient and family.

D. treatment of complications :
 asthma …….bronchdilators.
 Allergic Broncho Pulmonary Aspergilosis …….steriods.
 Constipation and DIOS ……laxatives and hydration
 Diabetes …….insulin.
 Liver disease …….ursodeoxycholic acid
 Arthritis …….NSAIDS ,prednisolone.
 Cor pulmonale ……heart lung transplantation.( indication for
transplant lung in advance lung disease )

E. Others :
- Gene Therapy.
- genetic counseling.( check for carrier parents by mouthwash test or
venepuncture for detection of mutation)
- isolation : to reduce spread of harmful organisms such as Burkholderia
cepacia (treated by meropenam).

What are complications of CF ?

1. RESPIRATORY :
 Bacterial colonizations and infections – typically staphylococcus ,
hemophilus , pseudomonas
 Cor pulmonale
 Allergic bronchopulmonary aspergillosis
 Acute sinisitus and nasal polp.

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2. GIT / HEPATIC:
 Pancreatic insufficiency – fat malabsorption
 Meconium ileus in neonates , meconium plug.
 Distal intestinal obstruction syndrome(DIOS) or meconium ileus
equivalent.
 Rectal prolapsed (toddler presentation )
 Chronic liver disease resulting from biliary cirrhosis.
3. ENDOCRINE :
 IDDM
4. METABOLIC :
 Hyponatraemic hypochloraemic metabolic alkalosis
5. GENITOURINARY:
 Infertility in male caused by azoospermia due to bilateral absence of
vas deferens.
 Subfertility in female.

what about prognosis of CF ?

a. 40 yrs median survival rate.

b. More than 90% mortality due to lung disease. cirhosis is 2nd life
threating condition.
c. Poor prognostic factors :
 Female sex
 Recurent Haemptosis
 Cor- pulmonale
 Pneumothorax
 Multiple organ involvement.
 Poor growth.

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