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Terms in this set (48)
What dose a case presentation for Kartagener syndrome look like?
-productive cough with profuse yellowish expectoration with postural variation
-low grade fever
-recurrent rhinosinusitis and profuse expectoration for many years
-apex beat was localized to right 5th ICS on mid-clavicular line, and liver dullness was on the left side suggestive of situs inversus
-bilateral coarse leathery crepitations on the lower lobes present on inspiration as well as expiration
-dextrocardia on CXR with aortic arch lying on the right side of the trachea
-CT showing bilateral bronchiecatic changes
-abdominal US showed liver and inferior vena cava on the left side, and spleen, stomach, and aorta on right side
-paranasal sinus radiography showed changes of chronic maxillary sinusitis bilaterally
what is bronchiectasis?
an uncommon disease that results in the abnormal and permanent distortion of one or more of the conducting bronchi or airways, most often secondary to an infectious process
the prevalence of bronchiectasis increases with age: true or false?
true, especially over age 75
what are the two factors that lead to the formation of bronchiectasis?
obstruction and infection which form a viscious cycle of more obstruction, more airway damage, and subsequent bacterial colonization, recurrent infections with its resultant damage
what is idiopathic bronchiectasis?
development of bronchiectasis in patients with no history of lung injury prior to the onset of bronchiectasis
most common etiology of bronchiectasis
what is post-infectious bronchiectasis?
patients with a known history of lung diseases prior to bronchiectasis, most with a history of pneumonia predating by years the onset of bronchiectasis
what are the three categories of etiologies of bronchiectasis?
3. due to an underlying anatomic or systemic disease
what are the congenital causes?
cystic fibrosis, primary ciliary dyskinesia, and alpha1-antitrypsin deficiency. All these diseases are associated with defects of mucociliary clearance.
what is cystic fibrosis?
autosomal recessive disease. Caused by defects in the gene for cystic fibrosis transmembrane conductance regulator (CFTR) which encodes for a protein that functions as a chloride channel. Electrolytic abnormalities result in viscid secretions in the respiratory tract, pancrease, GI tract, sweat glands, and other exocrine tissues. Lung disease results from cloggin of the airways due to decreased mucociliary clearance. Infection occurs especially with Pseudomonas aeruginosa. Bronchiectasis is an almost universal feature of this disease
what is primary ciliary dyskinesia?
a rare autosomal recessive disease characterized by defective ciliary structure and function leading to chronic respiratory tract infections
half of the PCD patients have Kartagener syndrome. Young syndrome is another component of PCD
what is Kartagener syndrome?
combination of situs inversus, chronic sinusitis, and bronchiectasis
what is Young syndrome?
bronchiectasis, rhinosinusitis,a dn congenital epididymis obstruction associated with reduced fertility
what is alpha-1-antitrypsin deficiency?
defective production of ATT, which causes panacinar emphysema in adult life
what is the consequence of lung injury prior to onset of bronchiectasis?
extrinsic insults or an underlying predisposition to respiratory infection are likely to be more important in the etiology of bronchiectasis than lung damage occuring after pneumonia, pertussis, measles, or tuberculosis as a cause of bronchiectasis
what are the two main pathogens in bronchiectasis?
1. Haemophilus influenzae adn Pseudomonas aeruginosa
what is the role of pseudomonas aeruginosa?
not the primary cause of bronchiectasis, but patients with bronchiectassis often develop chronic bronchial infection with P. aeruginosa via a mechanism invoving biofilm formation
what is the role of the mycobacterium avium complex (MAC)?
bronchiectasis secondary to MAC infection is seen in thin women older than 60 who are non-smokers and have no underlying pulmonary disease. Also known as Lady Windermere syndrome
what is the role of Staph auerus?
its uncommon and repeated isolateion should lead to consideration of undiagnosed cystic fibrosis
what is the clinical presentation of bronchiectasis?
-more common in females in their 60s and 70s
-dominent symptom is chronic cough with sputum production
-clubbing of fingers
-dyspnea and wheezing
-pleuritic chest pain
what do lab studies show?
leukocytosis with neutrophilia and anemia
Polycythemia secondary to chronic hypoxia may be observed in advanced cases.
sputum cultuer and gram stain reveal organisms
what are complications associated with bronchiectasis?
-obstructive respiratory insufficiency
-cor pulmonale, brain abscesses, adn amyloidosis are less frequent complications of bronchiectasis
what are the 3 classifications of bronchiectasis?
1. Cylindrical- have "tram track" or "signet ring" appearance
2. Varicose- beaded appearance of saphenous variscosities or a string or pearls
3. Saccular (cystic)-most severe form. . "honeycomb" or "cluster of grapes" appearance
what is the gross appearance of a lung with bronchiectasis?
the airways are dilated, sometimes up to 4X normal size. They are sufficiently dilated so that they can be followed almost to the pleural surfaces.
On the cut surface of the lung, the transected dilated bronchi appear as cysts filled with mucopurulent secretions
Focal destruction of part of the bronchial wall, increased mucous secretion and retention, and peribronchial fibrosis occur. The surrounding lung shows volume loss, fibrosis, emphysema, and nodular inflammatory foci
what is the microscopic appearance?
intense acute and chronic inflammatory infiltration within the walls of the bronchi and bronchioles, associated with desquamation of the lining epithelium and extensive areas of necrotizing ulceration. There may be squamous metaplasia of the remaining epithelium. In some instances lung abscesses may form. Fibrosis of the bronchial and bronchiolar walls and peribronchiolar fibrosis develop in the more chronic cases, leading to varying degrees of subtotal or total obliteration of bronchiolar lumens
in allergic bronchopulmonary aspergillosis, a few fungal hyphae can be seen on special stains within the inflammatory contents of the dilated segmental bronchi
what are the criteria for diagnosis using high-resolution CT scanning?
internal diameter of bronchus wider than its adjacent artery and failure of the bronchi to taper. Bronchial wall thickening appears to indicate airway inflammation and may have prognostic implications
How is the pulmonary function with bronchiectasis?
the most common abnormality is an obstructive airway defect. Spirometry shows a reduced FEV1. Obstruction in bronchiectasis is not usually reversible with bronchodilator therapy
what is the gene coding for cystic fibrosis?
CF is inherited as an autosomal recessive trait and the gene encodes a protein called the cystic fibrosis conductance transmembrane regulator on chromosome 7. CFTRGene
what causes CF?
defects in the gene encoding CFTR that reuce either its Cl- transport capacity or its level of cell surface expression as well as a form of male sterility due to congenital bilateral absence of the vas deferens. In intestinal epithelial cells, overstimulation of CFTR because of the activation of protein kinases by bacterial enerotoxins causes secretory diarrhea
what is the most prevalent mutation of CFTR?
deletion of a single phenylalanine residue at amino acid 508. This mutation is known as delta-F508
what is the basic epithelial abnormality in CF?
defective CFTR results in decreased secretion of Cl- and increased reabsorption of Na and water across epithelial cells. Te resultant reduced height of epithelial lining fluid and decreased hydration of mucous results in mucus that is stickier to bacteria, which promotes infection and inflammation. Secretions in the respiratory tract, pancreas, GI tract, sweat glands, and other exocrine tissues have increased viscosity, which makes them difficult to clear
what are the CF changes in respiratory epithelia?
Desiccated secretions become more viscous. There is failure to clear mucus from the airways both by ciliary and cough-dependent mechanisms. Mucus secretions are retained and obstruct airways, starting with those of the smallest caliber, the bronchioles. Airflow obstruction at the level of small airways is the earliest observable physiologic abnormality of the respiratory system
chronic bronchiolitis and chronic bronchitis are the initial lung manifestations, but after months to years, structural changes in airway walls produce bronchiolectasis and bronchiectasis
what are the CF changes in pancreatic and biliary epithelia?
inability to secrete salt and water takes place in the pancreatic and biliary ducts leading to desiccation of proteinaceous secretions and obstruction. The digestive system is suseptible to intestinal obstruction by improperly hydrated stools. The sticky mucus causes pancreatic ductal blockage and chronic pancreatitis. The resulting loss of pancreatic enzymes causes steatorrhea that may offset the tendency for intestinal block. The end result is pancreatic degeneration and biliary cirrhosis but no infection; chronic infection in CF is limited to the airways
what are the CF changes in reproductive epithelia?
vas deferens are missing bilaterally in men, and they are infertile
what are the abnormalities in sweat gland epithelia in CF?
Normally, sweat glands secrete primarily salty water onto the skin. Sweat is hypotonic to the primary secretion.
In CF, Cl- conductance is abolished. Sodium conductance is low, and the net result is that very little NaCl is reabsorbed, resulting in a high salt content in CF sweat.
the concentration of salt in final sweat excreted from CF patients is 3-5X higher than normal
what are the 5 different classes of mutations in the CFTR gene?
Class I: Cause the most severe CF phenotypes due to complete lack of CFTR protein at the apical surface of epithelial cells
Class II: causes small quantity of CFTR protein to be misfolded
Class III: protein does not respond to cAMP stimulation
Class IV: generates a reduced Cl- current
Class V: reduced biosynethesis of fully active CFTR. Associated with a milder phenotype
Class VI: produces a truncated CFTR with a half life that is reduced by 5-6X. Associated with severe CF presentation
what affect does CF have on the nose and paranasal sinuses?
more than 90% of CF patients suffer from rhinosinusitis. Nasal obstruction and rhinorrhea are common caused by rhinitis or nasal polyposis. The thick mucus may fill the sinuses which are virtually always opacified radiographically
what affect does CF have on the lungs?
pulmonary involvement is the most severe manifestation of this disease. The earliest pathologic lesion in the lung is bronchiolitis (mucous plugging and an inflammatory response in the walls of the small airways) which extend to the larger airways (bronchitis). Goblet cell hyperplasia and submucosal gland hypertrophy become prominent pathologic expressions of a hypersecretory state, which is most likely a response to chronic airway infection.
what are the complications of mucous bronchial plugging?
intermittent acute respiratory infections, recurrent pneumonia, atypical asthma, bronchiolectasis, and bronchiectasis, pneumothorax, hemoptysis, and digital clubbing
which organisms affect CF patients?
-Pseudomonas aeruginosa, Burkholderia cepacia, and Aspergillus
what is the most constant symptom of pulmonary involvement in CF patients?
chronic cough that is loose and productive. Expectorated mucus is usually purulent. Wheezing is a frequent symptom
what symptoms appear as CF progresses?
exercise intolerance, SOB, and failure to gain weight or grow. Cyanosis is a late sign. Cor pulmonale, respiratory failure, and death eventually supervene beyond the first decade of life.
what symptoms are seen in kids with CF?
increased anteroposterior diameter of the chest, generalized hyperresonance, and digital clubbing.
what is the affect of CF on the pancreas?
90% of CF patients develop pancreatic exocrine insufficiency. Endocrin insufficency (insulin dependent diabetes) occurs in only 30%
loss of pancreatic exocrine secretion results in maldigestion of fat and protein, persistent diarrhea, abdominal distension, steatorrhea, hypoproteinemia, marked edema, and poor weight gain
what is the affect of CF on the GI tract?
Meconium ileus may be the first clinical manifestation of CF.
patients with abdominal distension at birth, eventually progressing to failure to pass meconium, and bilious vomiting. Examination reveals dilated loops of bowel with a doughy character that indent on palpation. Abdominal radiographs show dilated loops of bowel with air fluid levels, and frequently, a collection of granular "ground-glass" material in the lower central abdomen
Distal intestinal obstruction syndrome (DIOS) is a meconium ileus equivalent. The cause is unknown and occurs as solid or semisolid material accumulates in the ileocecal valve where stool is normally liquid
what is the affect of CF on the liver?
the biliary ductules may be plugged with secretions leading to chronic hepatitis accompanied by bile duct proliferation and portal inflammation. If this process is progressive, focal biliary cirrhosis (jaundice) may develop. Focal biliary cirrhosis develops in up to 40% of patients, which can eventually involve the entire liver, resulting in ascites, portal hypertension, and esophageal varicose
Hepatic steatosis develops in up to 30% of patients and is due to malabsorption secondary to pancreatic insufficiency
what is the affect of CF on the male reproductive tract?
congenital bilateral absence of vas deferens
what test is the gold standard for CF?
the sweat test
what newborn screening is done?
the plasma concentration of immunoreactive trypsinogen (IRT) is tested. Babies born with CF often have high levels of IRT in their blood
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