CYSTIC FIBROSIS DEFINITION uMost frequent congenital metabolic disease uAutosomal recessive inheritance – only a person with 2 clinically significant mutations becomes ill uProgressive lung disease, pancreatic insuficiency, high concentration of electrolytes in sweat, azoospermia, affects liver, intestines uDescribed in 1938, gene discovered in 1989, name refers to pancreatic fibrotic and cystic conversion Autosomal recessive inheritance pattern EPIDEMIOLOGY u1:2500 – 4500 Caucasian newborns u35 newborns with CF per year in Czech Republic uEvery 25th person CFTR mutation carrier Český registr cystické fibrózy 2.0 Centrová péče o pacienty s cystickou fibrózou: situace v ČR - PDF Stažení zdarma GENETICS uCFTR gene codes CFTR protein (ion transmembrane conductance regulator) u> 2000 mutations known – most of them are rare or don‘t cause manifest disease u30 mutations cause manifest CF uMost frequent mutation F508del u uRelationship of the genotype and the phenotype: uSevere mutations – classic signs of CF uMild mutations – atypical forms – sufficient pancreatic function, borderline limits of the sweat test, late onset and mild respiratory manifestation, normal liver function PATHOPHYSIOLOGY uGene product – chloride chanel on the epithelial cell‘s membrane uImpermeability to chloride ions: u1. thickening of the mucus secretions – mucociliary clearance disorder – mucus retention – bacterial colonisation (biofilm) – neutrophil infection – bronchiectasis, obstructive ventilation disorder, respiratory insuficiency, blockage the ducts carrying digestive enzymes - demage of the pancreas and liver, reduced fertility u2. chlorides and sodium cannot be resorbed in the sweat glands The defect in cystic fibrosis. A mutation in the CFTR gene prevents Cl... | Download Scientific Diagram DIAGNOSTICS uTypical clinical signs and/or uFamily history and/or uNewborn screening – blood tests for rare diseases and genetics, kiss your baby test u+ uPositive sweat test and/or u2 classical CFTR gene mutations Newborn screening - Wikipedia ALGORITHM uCLINICS / NEWBORN SCREENING / FAMILY HISTORY SWEAT TEST LOW MIDDLE HIGH CF non-suspected CF Dg. GENETICS 2 MUTATIONS Atypical CF / CFTR - RD 1 – 0 MUTATIONS CFTR-RD / healthy carier / false positive SwCl GENETICS CLINICAL SYMPTOMS uNewborns – meconium ileus, lower birth weight, long newborn jaundice uOlder babies and kids – respiratory + gastrointestinal manifestation, salt loss syndrome (acute hyponatremic dehydratation with shock, chronic metabolic alkalosis), poor growth and weight gain uAdolescents + adults – infertility / azoospermia, bronchiectasis, Pseudomonas aeruginosa cultivation, pancreatic insufficiency, mental health problems, osteoporosis u Obsah obrázku text, jídlo Popis byl vytvořen automaticky RESPIRATORY SYMTOMS uPersistant pathogen colonisation – Staphylococcus aureus, Haemophillus influenzae, Pseudomonas aeruginosa, Burkholderia cepacia, MOTT uChronic respiratory infection – cough, sputum production, X-ray changes, obstructive ventilatory disorder, clubbing fingers uChronic sinusitis – nasal polyps, pansinusitis u u u u u uComplications: uBronchiectasis, allergic bronchopulmonary aspergillosis, atypical mycobacteriosis, atelectasis, pneumothorax, hemoptysis, pulmonary hypertension, cor pulmonale, hypoxemia, respiratory failure Nail clubbing in laxative abuse: case report and review of the literature | Journal of Eating Disorders | Full Text Cystic fibrosis (pulmonary manifestations) | Radiology Reference Article | Radiopaedia.org Microorganisms | Free Full-Text | Current and Emerging Therapies to Combat Cystic Fibrosis Lung Infections | HTML CT cystic bronchiectasis - UpToDate GASTROINTESTINAL SIGNS uIntestinal disease – distal intestinal obstruction syndrome, rectal prolapse uPancreatic disease – exocrine insufficiency, steatorhea, relaps of pancreatitis uChronic hepatobiliary disease – cirrhosis uMalabsorbtion, malnutrition, hypoprotein odema uAvitaminosis – ADEK, blood clotting disorder u u u uComplications: uGastroesophageal reflux, oesophagitis, gastroduodenal ulcerations, fibrotic colonopathy, portal hypertension, distal bile duct stenosis, cholelithiasis, gallstones, CFRDM, metabolic bone disease Qué es la osteoporosis? | Muévete con Nosotros Pancreatic lipomatosis in cystic fibrosis - CT - Radiology at St. Vincent's University Hospital Focal biliary cirrhosis in cystic fibrosis. | Download Scientific Diagram TREATMENT uAt specialist multidisciplinary centers u1. Proactive treatment of airway infection u2. Good nutrition - supplementation u3. Pulmonary rehabilitation u4. Causal therapy u5. Psychological support, complications solution u6. Epidemiological and hygine restrictions u Simeox, Přístroj na odhlenění dýchacích cest / MR Diagnostic Threshold PEP Positive Expiratory Pressure Device - Medikart Healthcare Systems Private Limited at Rs 3500/piece , New Delhi | ID: 21574275212 Shop TheraPEP PEP Therapy System [PEP Therapy] | HPFY Airway Clearance Acapella | Henleys Medical Supplies TREATMENT – RESPIRATORY DISEASES uAirway clearance – mucolytics – dornase alfa, hypertonic saline uPulmonary infection – ATB according to sensitivity, never empirical, high dosage, long duration (2-3 weeks), cure every exacerbation, ATB combination uPs. aeruginosa - ciprofloxacin + tobramycin / colistin inhalation, amikacin /gentamycin + ceftazidim / meropenem uB. cepacia – meropenem + amikacin + cotrimoxazole + chloramfenicole uHome oxygen therapy uSurgical removal of the infected part of the lung uLung transplatation – WL: FEV1< 30% or rapid FEV1 decrease, frequent exacerbations, recurrent PNO, recurrent hemoptysis uncontroled by bronchial artery embolization. Performance indication : oxygen dependent respiratory failure, hypercapnia, pulmonary hypertension CF Lung Transplant Candidates: It's OK to Be Afraid, but Have Hope TREATMENT – GASTROINTESTINAL DISEASE uExocrine pancreatic insufficiency – lipase substitution uCF related DM – insulin injections / pump, diet never reccomended uHepatic cirrhosis - ursodeoxycholic acid, taurin uMetabolic bone disease – prevention = exercise, vitamine D, calcium, bisfosfonate uMalnutrition – increased caloric intake (150-200% of the standard), sipping, nasogastric probe, gastrostomy (PEG), parenteral nutrition uVitamine and mineral substitution – Ca, Mg, Zn, Se, Fe, fat soluble vitamines uPancreatic or liver transplantation REPRODUCTION u uIn 98% infertility (CBAVD) - genetics examination of the partner uMicro epididymal sperm aspiration (MESA) /Testicular sperm extraction (TESE) – spontaneus IVF / intracytoplasmic sperm injection (ISCI) – embryo transfer u u u uAbsolute gravidity contraindications: pulmonary hypertension, cor pulmonale, hypercapnia, resting hypoxemia uRelative contraindications: FEV1 < 50%, rapid pulmonary function decrease, Burkholderia colonisation, recurent pulmonary infections with IV ATB treatment, malnutrion, CFRDM uThird party reproduction Tropical blue male icon - Free tropical blue gender icons Sanus Hradec Králové - Metody léčby neplodnosti | SANUS Classic IVF vs. IVF-ICSI HYGIENE, EPIDEMIOLOGICAL AND OTHER RESTRICTIONS uPrevention of salt loss by the sweat, avoid physical exercise, sauna and hot dry conditions and dust environment, regular change of clothes because salty sweat irritates skin uPrevention of respiratory infection by avoiding crowded places, contact with humid subjects, stagnant water, nor its aerosol (toilet flushing only with closed toilet board), wash hands regularly, have their own bathroom – must be daily cleaned by chlorine preparations, cannot grow plants and water them, cannot wash dishes, avoid to molds on the wall and moldy things uStrictly isolate patients to prevent the transmission of infections to each other CAUSAL TREATMENT uOrphan drugs – rare diaseses (prevalence < 5/10 000 newborns) uDisease modifying drug: uDefective CFTR protein aktivator – increase capacity of ion channels for transport chloride ions – ivacaftor (Kalydeko) uDefective CFTR protein corrector – binds and stabilizes the channel in the membrane of the epithelial cell – lumacaftor (LUMA/IVA – Orkambi), tezakaftor (TEZA/IVA – Symkevi), elexacaftor (ELEXA/IVA/TEZA – Kaftrio) The AEMPS extends the indication for Symkevi up to 6 years of age | Fundación Respiralia contra la Fibrosis Quística Kalydeco (Ivacaftor) Wholesaler Supplier | Rasso Swiss Pharma Orkambi Lumacaftor Ivacaftor Tablets, Packaging Size: 112 Tablet, | ID: 23401032055 Kaftrio 75 mg/50 mg/100 mg 56 St - shop-apotheke.com PROGNOSIS uMedian age of survival 44 years uQuality of life expectations in causal treatment uCardiorespiratory complications and acute infections cause death in 80% u9 years median survival posttransplant Is U.S. Preeminence in High-Tech Medicine a Myth? The Case of Cystic Fibrosis Cystic fibrosis sufferers win affordable drug lifeline - The Junction Kalendář Slané ženy 2018 | Eshop - Klub nemocných cystickou fibrózou Kalendář Slané ženy 2018 | Eshop - Klub nemocných cystickou fibrózou Salty Girls by Ian Pettigrew - Capture magazine Cystic Fibrosis - Kin Canada THANK YOU TIS Brno - Transfuziologické Informační Systémy Klub cystické fibrózy Universidad Masaryk - Grupo Compostela de Universidades ECFS - Home | Facebook Cystic Fibrosis Foundation Lab - MassBio