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Cystic Fibrosis Hussain Samuaan Year 4, MBChBTABLE OF CONTENTS 01 Introduction 02 Epidemiology 03 Presentation 04 Differential diagnosis 05 Investigations 06 Management01 IntroductionIntroduction - Cystic Fibrosis is a autosomal recessive disorder, that causes persistent lung infections and limits the ability to breath over time. - It is caused by a genetic mutation of the cystic fibrosis transmembrane conductance regulatory (CFTR) gene on chromosome 7.02 EPIDEMIOLOGY- Approximately 1 in 25 people in the UK have a CFTR protein mutation - The probability of having a child with Cystic Fibrosis is 1/25 x 1/25 x 1/4 (autosomal recessive) = 1/250003 PRESENTATIONPRESENTATION 1. Meconium ileus Later onset 1. Chronic cough (with thick sputum) 2. Recurrent lower respiratory tract infections 3. Failure to thrive 4. Pancreatitis 5. Child tastes salty when kissed! Physical examination 1. Low weight or height on growth charts 2. Finger clubbing 3. Crackles and wheezes on auscultation 4. Abdominal distension DIFFERENTIAL 04 DIAGNOSISDIfferential diagnosis ● Bronchiectasis: Chronic cough, recurrent chest infections, and production of large amounts of sputum ● Asthma: Chronic cough, wheezing, shortness of breath, chest tightness ● Chronic Obstructive Pulmonary Disease (COPD): Chronic cough, recurrent chest infections, shortness of breath, wheezing05 INVESTIGATIONSInvestigations 1. Newborn blood spot testing Increased levels of Immunoreactive Trypsinogen (IRT) levelsSweat test - Gold standard Sweat test - Gold standard - A patch of skin is chosen for the test, typically on the arm or leg. - Electrodes are placed either side of the patch and a small current is passed between the electrodes. - This causes the skin to sweat. - The sweat is absorbed with lab issued gauze or filter paper and sent to the lab for testing for the chloride concentration. - The diagnostic chloride concentration for cystic fibrosis is more than 60mmol/l. Genetic testing - Can be performed during pregnancy - Amniocentesis and Chorionic Villus Sampling - Blood Spot test after birth05 Management Management Management requires Multidisciplinary approach ● Daily chest physiotherapy techniques to help clear mucus and prevent pneumonias ● Prophylactic antibiotics, bronchodilators, and medicines to thin secretions (e.g., dornase alfa) ● Pancreatic enzyme replacement (e.g., Creon) and fat-soluble vitamin supplementation. ● Regular immunisation with influenza and pneumococcal vaccines. ● Consideration for a bilateral lung transplant in patients with end-stage pulmonary diseaseCase 1 A 4-year-old child presents to the GP with his mother. She informs you that she is concerned regarding his poor weight gain. He is in the 15th centile for height and weight. His past medical history includes admissions to the hospital for recurrent chest infections and an episode of gastroenteritis. Developmental parameters are normal, except for slightly reduced hearing in the right ear, which is slightly erythematous. Given the most likely diagnosis, what test can be done to confirm the diagnosis? A) Genetic analysis B) Sweat test C) Chest X-Ray D) Heel-prick test E) Faecal elastaseCase 1 A 4-year-old child presents to the GP with his mother. She informs you that she is concerned regarding his poor weight gain. He is in the 15th centile for height and weight. His past medical history includes admissions to the hospital for recurrent chest infections and an episode of gastroenteritis. Developmental parameters are normal, except for slightly reduced hearing in the right ear, which is slightly erythematous. Given the most likely diagnosis, what test can be done to confirm the diagnosis? A) Genetic analysis B) Sweat test C) Chest X-Ray D) Heel-prick test E) Faecal elastaseCase 2 A young couple are planning to start a family in the near future and have come in to discuss their risk of having a child with cystic fibrosis as the woman was diagnosed with cystic fibrosis as a child and her partner has recently been screened. The result of his screening have unfortunately shown him to be a carrier for the cystic fibrosis gene. What is the likelihood of their first child being affected by cystic fibrosis? A) 100% B) 75% C) 50% D) 25%Case 2 A young couple are planning to start a family in the near future and have come in to discuss their risk of having a child with cystic fibrosis as the woman was diagnosed with cystic fibrosis as a child and her partner has recently been screened. The result of his screening have unfortunately shown him to be a carrier for the cystic fibrosis gene. What is the likelihood of their first child being affected by cystic fibrosis? A) 100% B) 75% C) 50% D) 25% Case 3 An 8 year old girl presents to the GP with a 6 month history of cough, wheeze and loose stools. Her mother says she gets very out of breath doing any exercise and coughs up a lot of phlegm every day. She has also had greasy foul-smelling stools that float. She gets a lot more colds than other kids. On inspection, the girl appears small for her age. Her chest has transmitted sounds bilaterally, reduced air entry but resonant to percussion throughout. Given this child's underlying diagnosis, which of the following vitamins or minerals is most likely to be deficient? A) Iron B) Vitamin A,D,E and K C) Vitamin B3 D) Vitamin B12 Case 3 An 8 year old girl presents to the GP with a 6 month history of cough, wheeze and loose stools. Her mother says she gets very out of breath doing any exercise and coughs up a lot of phlegm every day. She has also had greasy foul-smelling stools that float. She gets a lot more colds than other kids. On inspection, the girl appears small for her age. Her chest has transmitted sounds bilaterally, reduced air entry but resonant to percussion throughout. Given this child's underlying diagnosis, which of the following vitamins or minerals is most likely to be deficient? A) Iron B) Vitamin A,D,E and K C) Vitamin B3 D) Vitamin B12Bronchiectasis Year4,MBChBaanTable of contents 01 02 03 Introduction Aetiology Symptoms 04 05 06 Signs Investigations ManagementIntroduction - Bronchiectasisisthepermanent dilationofthebronchiandbronchioles. - Thisoccursfollowingdirectdamageto theairwaywalls - Thisleadstomucuspluggingand furtherrecurrentinfections. - Thisdilatationcausesobstructivelung disease.Canyounamesomeother obstructivelungdiseases?02 Aetiology I CRAM Immune OVER-Response Allergic bronchopulmonary aspergillosis (ABPA) Immune UNDER-Response HIV, inherited immunodeficiencies, bone marrow suppression Congenital Cystic Fibrosis, Primary biliary dyskinesia Childhood infections Tuberculosis, pneumonia, measles, pertussis I CRAM Respiratory disease COPD, pulmonary fibrosis Aspiration pneumonia Mechanical obstruction Foreign body, tumour, lymph node, external compression03 Symptoms Symptoms 01 Productive cough - Largeamountsofpurulentsputum(usuallygreen) 02 Dyspnoea Haemoptysis 03 04 Pleuritic pain04 Signs Signs 01 Finger Clubbing 02 Coarse inspiratory crackles 03 Wheeze05 Investigations1. SpirometryA66yearoldmanpresentstotheGeneralPractitioner(GP)withaproductive coughfortwoweeks.Hereportsbringingupanunusuallylargeamountofgreen sputum.Hehassmoked20cigarettesdailyforfiftyyears. Whenexamined,thereisclubbingofthefingersandbilateralcoarseinspiratory crackles.TheGPrequestsaspirometrytest.Whichoftheseresultswouldbe consistentwiththemostlikelydiagnosisofbronchiectasis? A) Increased FEV1/FVC ratio B) Increased FEV1/FVC ratio after bronchodilator C) Decreased FEV1/FVC ratio D) No change in FEV1/FVC ratio E) Slow vital capacity (SVC) 60%A66yearoldmanpresentstotheGeneralPractitioner(GP)withaproductive coughfortwoweeks.Hereportsbringingupanunusuallylargeamountofgreen sputum.Hehassmoked20cigarettesdailyforfiftyyears. Whenexamined,thereisclubbingofthefingersandbilateralcoarseinspiratory crackles.TheGPrequestsaspirometrytest.Whichoftheseresultswouldbe consistentwiththemostlikelydiagnosis? A) Increased FEV1/FVC ratio B) Increased FEV1/FVC ratio after bronchodilator C) Decreased FEV1/FVC ratio D) No change in FEV1/FVC ratio E) Slow vital capacity (SVC) 60%2. Sputum culture Mostcommonlyfoundorganismsare; Haemophilusinfluenzae Pseudomonasaeruginosa3. Chest X Ray4. High-Resolution Computed Tomography (HRCT) Radiopaedialink06 Management Management options Non-pharmacological Pharmacological Interventional ● Patienteducation ● Sputumclearance ● Surgicalexcision ● Supportgroups ● Antibiotics ● Bronchialartery ● Chestphysiotherapy ● Bronchodilators embolisation ● Smokingcessation ● LungtransplantLET'S DO SOME CASES? Case 1 A60yearoldwomanpresentedtotheGeneralPracticecomplainingofafiveday historyofapersistentcough,producingcopiousamountsofgreensputumwithred specks.Thisisthesecondepisodethisyear.Shewasdiagnosedtenyearsagowithan inflammatoryjointconditionthatprimarilyaffectedbothhandsforwhichshehasbeen takingmethotrexateandsulfasalazine.Shehasbeenalong-termsmokerwitha15 packyearhistory. Whichofthefollowingexaminationfindingswouldbemostconsistentwiththelikely diagnosis? A) Unilateral anhidrosis and miosis B) Bilateral ankle edema and right ventricular heave C) Coarse inspiratory crepitations and finger clubbing D) Sclerodactyly and telangiectasia E) Hyperresonance on percussion and reduced chest expansion Case 1 A60yearoldwomanpresentedtotheGeneralPracticecomplainingofafiveday historyofapersistentcough,producingcopiousamountsofgreensputumwithred specks.Thisisthesecondepisodethisyear.Shewasdiagnosedtenyearsagowithan inflammatoryjointconditionthatprimarilyaffectedbothhandsforwhichshehasbeen takingmethotrexateandsulfasalazine.Shehasbeenalong-termsmokerwitha15 packyearhistory. Whichofthefollowingexaminationfindingswouldbemostconsistentwiththelikely diagnosis? A) Unilateral anhidrosis and miosis B) Bilateral ankle edema and right ventricular heave C) Coarse inspiratory crepitations and finger clubbing D) Sclerodactyly and telangiectasia E) Hyperresonance on percussion and reduced chest expansion Case 2 A42yearoldfemalewithahistoryofcysticfibrosisandresultantbronchiectasis presentstotheirGPwitha4dayhistoryofincreasedsputumproductionandchangein sputumcolour.Theyareusuallymanagedwithdailychestphysiotherapyandathome nebulisers(bronchodilatorsandsaline)toaidsputumexpectoration.Asputumculture isperformedwhichconfirmsinfectionwithPseudomonasaeruginosawhichistreated fully.Thisisthepatient'sthirdconfirmedPseudomonasinfectioninthepastyear. Whatisthenextmostappropriatetreatmenttoinitiateinthispatient? A) Admit for intravenous antibiotics B) 7 day course of prednisolone C) Long Term prophylactic antibiotics D) Surgical resection E) 14 days of oral antibiotics Case 2 A42yearoldfemalewithahistoryofcysticfibrosisandresultantbronchiectasis presentstotheirGPwitha4dayhistoryofincreasedsputumproductionandchangein sputumcolour.Theyareusuallymanagedwithdailychestphysiotherapyandathome nebulisers(bronchodilatorsandsaline)toaidsputumexpectoration.Asputumculture isperformedwhichconfirmsinfectionwithPseudomonasaeruginosawhichistreated fully.Thisisthepatient'sthirdconfirmedPseudomonasinfectioninthepastyear. Whatisthenextmostappropriatetreatmenttoinitiateinthispatient? A) Admit for intravenous antibiotics B) 7 day course of prednisolone C) Long Term prophylactic antibiotics D) Surgical resection E) 14 days of oral antibioticsI would appreciate your feedback! References 1) https://radiopaedia.org/articles/bronchiectasis?lang=gb