Cystic Fibrosis Overview PDF

Krishnan Aniruddhan Consultant respiratory paediatrician  Pathophysiology  Diagnosis  Standard care  The future Commonest autosomal recessive condition  Defect in gene coding for Cystic Fibrosis Transmembrane Regulator (CFTR) located on chromosome 7  Currently 2110 mutations listed  Code...

Krishnan Aniruddhan Consultant respiratory paediatrician  Pathophysiology  Diagnosis  Standard care  The future Commonest autosomal recessive condition  Defect in gene coding for Cystic Fibrosis Transmembrane Regulator (CFTR) located on chromosome 7  Currently 2110 mutations listed  Codes for energy dependent chloride channel   Symptomatic • Meconium illeus • Recurrent chest • • • • • • • • infections Diarrhoea/constipation Growth faltering Hypernatremic dehydration Liver dysfunction Intussusception Pancreatitis Diabetes Infertility  Neworn screening IRT <60ng/ml CF not suspected Caucasian IRT>60ng/ml IRT <70ng/ml Retest 255 10 300 IRT >70ng/ml 245 -/Other Ethnic Day 5/6 blood spot +/- 20 Request 2nd IRT @ 27 days IRT <60ng/ml 25 CF diagnosed IRT>60ng/ml CF not suspected +/+ 23 High risk CF 7  Pilocarpine iontophoresis technique  Minimum sweat volume  Sweat chloride concentration > 60mmol/l  40-60mmol/l Borderline  <40 normal  Phone call from NBS lab • Delivering the result • Arranging tests  Sweat  Stool elastase  Genetics • Introducing the team  Doctors • Respiratory • GI/Liver • Endocrine-diabetes  Specialist nurse  Physiotherapist  Dietician  Respiratory physiologist  Psychologist  Pharmacist  Parents  Grandparents  Aunts/Uncle  Cousin  Airway clearance • Mucolytic therapy  Nutritional management • Calories • Vitamins • Salt  Management of chest exacerbations  Regular MDT clinic  Ad-hoc reviews  An exacerbation is defined as a need for additional antibiotic treatment based on the presence of 2 or more of: • • • • • • • Change in sputum volume/colour Increased cough Increased malaise Anorexia/weight loss Drop in PFT >10% X-ray changes Increased Dyspnoea  Viruses • Flu • Rhinovirus  Bacteria • S.Aureus • H.Inflluenzae • Pseudomonas • B Cepacia  Fungi • ABPA  Mycobacteria  Age 7: 1st Pseudomonas aeruginosa infection successfully treated with 3 weeks of oral ciprofloxacin and 3 months of nebulised colomycin  Age 9: Pseudomonas recurrence: Successful eradication with IV therapy  Age 10: Mycobacterium Kansasii infection 18 months of INH/EMB/Clari  Age 11: Pseudomonas recurrence 2016  Age 12: Pseudomonas recurrence  Age 12: Allergic Bronchopulmonary Aspergillosis (ABPA)  Age 13: M. Abscessus: IV intensive – Meropenem/Amikacin/cefoxitin (nausea)–Tigecycline 3 weeks Moxi reaction; Consolidation: Amikacin/Azithromycin/Clofazimine 18 months  Age 13: CF Related Diabetes  Age 14 : ABPA recurrence  Age 15 Symkevi  Age 16 Kaftrio  The more I know, the less I understand, All the things I thought I knew, I'm learning again Don Henley, Heart of the matter