Respiratory Pathologies - Cystic Fibrosis PDF

Notebook – Respiratory Pathologies October 2, 2024 2:10 PM Class 1: Cystic Fibrosis: Inherited genetic disorder; autosomal recessive Affects EXOCRINE glands Defec...

Notebook – Respiratory Pathologies October 2, 2024 2:10 PM Class 1: Cystic Fibrosis: Inherited genetic disorder; autosomal recessive Affects EXOCRINE glands Defective ion transport channels of Na+ and Cl - Mucosal secretions become very thick and viscous Respiratory, digestive, and reproductive systems are most affected Predisposes to chronic bacterial airway infections Progressive loss of pulmonary function Incidence m/c inherited genetic disease in white europeans Over 1000 new cases diagnosed per year 1 in 25 are carriers Etiology Autosomal recessive Genetic defect on chromosome 7 Spontaneous mutation Pathogenesis Impaired Na+/Cl- (more specifically chloride) channels cause accumulation of salt in tissues Surrounded mucous is abnormally thick Dehydrated and increased viscosity of mucous gland secretion Elevation of sweat electrolytes (sodium chloride) Pancreatic enzyme insufficiency Clinical Manifestations Variable Severity strongly associated with socioeconomic status and access to health care Abnormally high sodium and chloride concentrations in the sweat Pancreas: 80 – 90% of patients Thick secretions block pancreatic ducts Prevents pancreatic enzymes from reaching duodenum leading to impaired digestion and absorption of nutrients Eventual fibrosis Bulky, frothy, malodorus stool Can develop diabetes from this GI: Meconium ileus (10 – 15% of newborns) - meconium blocks the ileum (end of small intestine) Prolapse of the rectum Intestinal obstruction from thick, dry stool Poor nutrition (malabsorption) Weight loss Growth retardation/FTT Pulmonary: 80 – 90% Chronic cough Purulent sputum Chronic pulmonary infection – mucus is excellent medium Hypoxia Clubbing – distal part of fingers being swollen (chronic hypoxia) Cyanosis Barrel chest – long term issues Pectus carinatum – long term issues Kyphosis – long term issues Respiratory failure – long term issues Genitourinary: Infertility is universal in men and common in women Musculoskeletal: Muscle pain Decreased bone density – malnutrition Endocrine: Cystic fibrosis-related diabetes – mix of type 1 and type 2 Diagnosis Genetic testing Clinical presentation – failure to thrive, respiratory compromise (meconium ileus) Sweat test – salt Pancreatic enzyme test – is the pancreas functioning Pulmonary function test – is the lungs functioning Treatment Variable depends on the systems involved Antibiotics recurrent infections Medications decrease mucus production, bronchodilators Chest PT Tapotement Work on accessory breathing muscles Adequate nutrition Supplementation Lung transplant Prognosis Improving Median survival rate – 37 years old Bronchogenic Cyst: A rare condition characterized by the formation of a cyst in the middle of the chest, usually behind the manubrium – congenital Usually found incidentally Often asymptomatic, but symptoms may include chest pain, cough, SOB Extralobar Sequestration: A mass of lung tissue that is not connected (not functional) to the bronchial tree and is located outside the visceral pleura An abnormal artery, usually arising from the aorta, supplies the sequestered tissue Considered congenital Intralobar Sequestration: A mass of lung tissue within the visceral pleura, isolated from the tracheobronchial tree and supplied by a systemic artery For many years it was thought to be congenital, but is now thought to be acquired More common Common Cold: An acute, usually afebrile (no fever), self-limiting viral infection of the upper respiratory tract Aka – infectious rhinitis Etiology Rhinovirus (50%) - most common Coronavirus Adenovirus Parainfluenza virus Other viruses Very contagious Clinical Manifestations Scratchy or sore throat Sneezing Rhinorrhea – runny nose Nasal obstruction Sickness behaviour – malaise Cough Influenza: "The Flu" Influenza is a viral respiratory infection causing fever, coryza (rhinitis), cough, headache, and malaise Mortality is possible during epidemics, particularly among high-risk patients – elderly/immunocompromised Etiology Influenza virus most often Can be other viruses as well Risk Factors Children Elderly Chronic disease Pregnancy Other disorders Clinical Manifestation Common cold Conjunctivitis – itchy eyes, red eyes Chills Fever Prostration – too tired to even stand up (slumped over praying) Cough Aches and pain Severe fatigue Headache Coryza Scratchy throat Nausea Vomiting Abdominal pain Medical Management Diagnosis – clinical evaluation Treatment symptomatic treatment (fluids, rest) antivirals medications for ppl w/ higher risk for complications Prognosis – good Complication Pneumonia Pneumococcus – community acquired pneumonia Staph aureus – hospital acquired pneumonia Encephalitis Inflammation of the brain Guillain-barre Syndrome Immune system might react weird and attack the nervous system – autoimmune condition of the nerves Renal disease Virus infecting the kidney Losing a lot of fluids – overloaded b/c lack of fluid Prevention Handwashing Vaccination Sinusitis: Inflammation of the paranasal sinuses Can be classified as acute (bacterial) Subacute recurrent, chronic (allergies) Etiology Viral, bacterial, fungal infection Recurrent allergies Clinical Manifestation Variable Purulent rhinorrhea Pressure and pain Nasal congestion and irritation Tenderness, swelling, erythema Toothache Headache Cough Tearing Malaise Diagnosis History and clinical evaluation Treatment Drainage Antibiotics Surgery Acute Bronchitis: Inflammation of trachea and bronchi that is of short duration and self-limiting with few pulmonary signs It can result from chemical irritation – smoke, fumes, gas May occur from viral infections – influenza, measles, chickenpox, whooping cough, bacterial infection – m/c Clinical Manifestation URI Cold Fever Dry, irritating cough Sore throat Laryngitis Chest pain Productive cough Wheezing Treatment Symptomatic Vaccination Prognosis Usually good Complications include – pneumonia Class 2: Pneumonia: Inflammation of the lungs (similar to pneumonitis) Can be caused by infection (bacterial, viral, fungal) usually via inhalation and/or aspiration Can affect one or both lungs Incidence Very common 4 million cases diagnosed per year (US) A leading cause of death worldwide Children are more likely to get viral pneumonia Adults are more likely to get bacterial pneumonia Risk Factors Smoking Acute respiratory infections Chronic bronchitis Diabetes Chronic or critical illness Immune deficiency Infant Elderly Disabled Altered consciousness Periodontal disease Difficulty swallowing Classification: by Acquisition 1. Community-acquired Streptococcus pneumoniae – most common Haemophilus influenza 2. Hospital-acquired Staphylococcus aureus Occurring in immunocompromised people Classification: by Area Involved 1. Alveolar pneumonia Involves alveoli 2. Interstitial Involves septa 3. Bronchopneumonia Limited to segmental bronchi 4. Lobar pneumonia Widespread or diffuse Pathogens 1. Upper respiratory flora Streptococcus, staphylococcus, haemophilus 2. Enteric Saprophytes Candida albicans – rare 3. Extraneous pathogens Mycobacterium tuberculosis, viruses Duration Acute Chronic Recurrent Routes of Infection Inhalation of pathogens in air droplets Aspiration of infected secretion from URT, eg. Staph and Strep Aspiration of infected particles from GI, food or drinks etc. Hematogenous spread – from sepsis Pathogenesis 1. Invading microorganisms cause alveolar macrophages to release biochemical mediators 2. Inflammatory response does not eliminate pathogen 3. Microorganisms multiply and release damaging toxins 4. Inflammatory and immune response damages parenchyma 5. Resolution may lead to scarring and loss of function Clinical Manifestations Viral pneumonia – typically not as many symptoms Sudden, sharp pleuritic chest pain – pleuritis (inflammation of the pleurae) Hacking, productive cough Rust or green-coloured sputum Dyspnea Tachypnea Cyanosis Headache Fatigue Gever Chills Aching Myalgia Diagnosis Culture Chest films (CXR) Physical examination – tapotement to the lungs (sounds more dull when fluid in lungs) Treatment Antibiotics – if bacterial Rest Fluids – general hydration/thins mucus Medications – bronchodilators, mucus thinning Vaccinations Complications Pleuritis Leads to pleural effusion Symptoms – sharp chest pain Pus can fill the pleural cavity (pyothorax, empyema) Can be encapsulated with fibrous tissue Obliterates the pleural cavity ---> lungs cannot expand during inspiration ---> restrictive lung disease Abscesses From highly virulent bacteria, especially staph Destroys the lung parenchyma Pus causes destruction of walls ---> bronchial dilation (aka. Brochiectasis) Chronic inflammation Especially w/ pneumonia that is unresponsive to treatment End up with destruction of lung parenchyma and fibrosis ---> aka honeycomb lungs on x-ray Forms of Pneumonia: Pneumocystis Jirovecii Pneumonia (PCP) Pneumocystis pneumonia Often fatal (if not treated) fungal pneumonia Etiology Idiopathic – unsure of where the fungus comes from Risk factors Immunosuppression, chemotherapy, transplantation, malnutrition Clinical manifestation Fever, impaired gas exchange, progressive dyspnea, fatigue, weight loss, cough, pneumothorax Diagnosis Lab tests; treatment – antifungal meds Legionnaire's Disease Rare infectious disease caused by legionella pneumophila Can cause massive consolidation and necrosis of lung parenchyma associated with high mortality Causes other sever symptoms including high fever, nausea, vomiting, headache, chills, disorientation ect. Treatment Antibiotics Pulmonary TB: Infectious, inflammatory systemic disease of the lungs that may disseminate to involve lymph nodes and other organs May be primary or secondary Primary infection is usually asymptomatic (chronic or latent) Secondary TB – develops when the primary infection becomes active as a result of lowered resistance Incidence 2 billion cases worldwide Highest in SE asia, africa, eastern europe Etiology Mycobacterium tuberculosis Risk Factors Immunocompromised Elderly Drugs, alcohol Malnutrition Poor health Infants and children Chronic diseases (AIDS) Smoking – may increase the risk of advanced disease Transmission Overcrowding Prevalence in other areas of the world Ethnicity Immigrants Low SE status (poor access to health care) Pathogenesis 1. Involves inhalation of m. tuberculosis 2. Macrophages and lymphocytes release cytokines 3. Transforms macrophages into epithelioid cells 4. Multinucleated giant cells 5. Cluster around to form granulomas with caseous necrosis - type 4 hypersensitivity reaction Clinical Manifestations Delayed, insidious, non-specific Productive cough Hemoptysis Weight loss Fever Night sweats Fatigue Malaise Anorexia Diagnosis History PE Tuberculin skin test Culture sputum Treatment Medications (antibiotics – 9 months) Lung Abscess: Etiology Aspiration of oral secretions by patients with gingivitis or poor oral hygiene Typically, patients have altered consciousness as a result of alcohol intoxication, illicit drugs, anesthesia, sedatives, etc. Older patients and those unable to handle their oral secretions, often because of neurologic disease, are also at risk The most common pathogens of lung abscesses due to aspiration are anaerobic bacteria, but can involve aerobic bacteria as well The most common aerobic pathogens Streptococci and staphylococci Immunocompromised patients with lung abscess may have infection with mycobacteria or fungi Pathogenesis 1. Introduction of these pathogens into the lungs first causes inflammation, which leads to tissue necrosis and then abscess formation 2. The abscess usually ruptures into a bronchus, and its contents are expectorated, leaving an air- and/or fluid-filled cavity 3. Abscesses tend to connect with other airways and erode bronchial walls. Patients end up with putrid malodourous expectorations Clinical Manifestations Lung infection symptoms Productive cough Foul-smelling sputum Systemic infectious symptoms Persistent fever Chills Lung symptoms Dyspnea Chest pain Cyanosis Clubbing – fingertip bulges Hemoptysis - coughing up blood Diagnosis X-rays – chest film to check for calcification (ghon complex) Sputum analysis Imaging Treatment Antibiotics Good nutrition Percussion Drainage Chronic Obstructive Pulmonary Disease: Chronic airflow limitations that is not fully reversible Chronic bronchitis – defined as a productive couch lasting for at least 3 months per year for 2 consecutive years Emphysema – destruction of lung parenchyma and pathological accumulation of air in the lungs COPD Epidemiology Incidence – 12 million Mortality – 3rd leading cause of death Morbidity – 2nd leading cause of disability Estimated to cost US over $800 billion over the next 20 years Men = women, female incidence is climbing Etiology & Risk Factors Exposure to environmental irritants Occupational Air pollution Age – usually 55 – 60 years of age Genetics Family history Anti-trypsin deficiency Smoking – most common specifically tobacco COPD rarely occurs in non smokers Chronic Bronchitis: Pathogenesis 1. Inflammation and scarring of bronchial lining leads to obstruction of airflow and increased mucous production 2. Irritants cause an increase in size and number of mucous producing glands and hypertrophy of smooth muscle cells 3. Leads to obstruction of airways 4. Impaired ciliary function predisposed to infection 5. Infection results in increased mucous production, bronchial inflammation and thickening Chronic Bronchitis: Clinical Manifestations Productive cough (defining symptom) SOB (blockage of airways) Recurrent infection Fever Malaise Cyanosis (blue bloater) Cor pulmonale Emphysema: Pathogenesis Destruction of elastin protein in the lung leads to permanent enlargement of acini Loss of elasticity causes narrowing or collapse of bronchioles which traps air in lungs Leads to breathing difficulties Pockets of air called blebs and bullae Hypoxemia and hypercapnia Forceful breathing through pursed lips – using a lot of accessory breathing muscles (pink puffer appearance) Emphysema: Clinical Manifestations Marked exertional dyspnea (bronchioles collapse) Dyspnea at rest Thin, barrel chest, hypertrophy of accessory muscles of respiration (Pink Puffer) Obstructive lung diseases: Tachypnea COPD Anxiety Cystic fibrosis Wheezing Bronchiectasis Breathing slower but harder – breathing through purced lips Diagnosis History Physical exam Pulmonary function test (spirometer) X-ray CT Blood tests (arterial oxygen saturation, as well as other markers for differential) Treatment Quit smoking Medications – bronchodilators Airway clearance Exercise Avoiding irritants – pollution, dust Diet – hydration, general nutrition Oxygen Surgery – remove parts of lung; lung transplant Prognosis Poor Mortality rate 10 years after diagnosis is greater than 50% Bronchiectasis: Progressive form of obstructive lung disease characterized by irreversible destruction and dilation of airways Generally associated with chronic bacterial infections and cystic fibrosis Etiology & Risk Factors Any condition that produces a narrowed lumen of the bronchioles TB, viral infections, pneumonia, structural anomalies Immunodeficiency (recurrent infections) Genetic conditions Defective bronchial cartilage/alterations in ciliary activity Cystic fibrosis Almost everyone with CF eventually gets bronchiectasis Because of recurrent infections Pathogenesis All the causative conditions impair airway clearance mechanisms and host defenses, resulting in an inability to clear secretions and predisposing patients to chronic infection and inflammation Due to frequent infections, airways become filled with viscous mucous that contains inflammatory mediators and pathogens Airways slowly become dilated, scarred, and distorted Histologically, bronchial walls are thickened by edema, inflammation, and neovascularization Destruction of surrounding interstitium and alveoli causes fibrosis, emphysema, or both Clinical Manifestation Persistent coughing with large amounts of purulent sputum Dyspnea Fatigue Weight loss Anemia Fever Hemoptysis Weakness Clubbing Foul-smelling sputum Diagnosis Imaging (CT) History Clinical manifestation Genetic testing - cystic fibrosis - other genetic conditions Treatment Bronchodilators Antibiotics Corticosteroids Hydration (Thin mucus) Surgery Class 3: Allergic rhinitis Pneumoconiosis Hypersensitivity pneumonitis Asthma