Cystic fibrosis

Etiology
Commonest is Caucasian 1 in 2500 live birth 1 in 25 carrier rate. Defective protein called cystic fibrosis trans membrane conductance regulator (CTFR) o o Cyclic dependent chloride channel Located on chromosome 7

Pathophysiology

Multi-system disorder resulting from abnormal ion transport across epithelial cells o Airways Reduction in airway surface liquid layer Impaired ciliary function Retention of mucopurulent secretions Dysregulation of inflammation & defense against infection o Intestine Thick viscid meconium meconium ileus Blocked pancreatic duct enzyme deficiency & malabsorbtion o Sweat glands Xs sodium and chloride concentration

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CF

Newborn o Diagnosed thru screening

Infancy o o o o o Meconium ileus Prolonged neonatal jaundice Failure to thrive Recurrent chest infection Malabsorbtion, steatorrhea

Young child o o o o Bronchiectasis Rectal prolapse Nasal polyp Sinusitis

Older and adolescent o o o o o o Allergic bronchopulmonary aspergillosis (ABPA) DM Cirrhosis & portal hypertension Distal intestinal obstruction Pneumothorax / recurrent hemoptysis Sterility in males

Diagnosis

Sweat test o Chloride ( 60-125 mmol/L in CF (N= 10-40 mmol/L))

Gene abnormalities in CFTR protein

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Management

Aim; o o Prevent progression of lung disease Maintain adequate nutrition and growth

Respiratory o o o o o o Measured lung function regularly Physiotherapy twice a day clear the airways of secretion Chest percussion and postural drainage (infant) Controlled deep breathing exercise (older patient) Continuous prophylactic oral antibiotics Chronic pseudomonas ttt with nebulized antipseudomonal antibiotics o Nebulized DNAse / hypertonic saline decrease viscosity of sputum o o Macrolide antibiotic decrease respiratory exacerbations For severe case implantation of central venous catheter with a subcutaneous port o End-stage CF bilateral sequential lung transplantation

Nutritional o o Regular assessment of dietary status Pancreatic insufficiency oral enteric coated pancreatic replacement therapy o o High calorie diet Fat soluble vitamin

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Teenagers and adult o Complication of liver o o Most common is DM Liver disease with hepatomegaly Abnormal liver function Liver cirrhosis Portal hypertension Liver failure

Distal intestinal obstruction ttt with oral gastrografin May be increasing in respiratory infection avoid social contact with other people with CF

Males are always infertile ttt with ICSI

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