Perinatal Infections - Rotor Syndrome (67)
Terms in this set (56)
List 3 pathways for fetal and perinatal infections.
What type of pathogens cause ascending infection?
*few viral infections, e.g. Herpes simplex
List 2 ways by which the fetus can acquire an ascending infeciton.
inhalation of infected amniotic fluid
passage through birth canal
List 3 disorders caused by ascending infections.
List 3 fetal infections acquired by the hematogenous route.
Others (Listeria, parasitic infections)
Others --> SLAVE
Listeria monocytogenes (late-onset sepsis)
Which TORCH agent is associated with ascending infection?
*also associated with direct contact at the time of delivery
TORCH infections Sx
Which TORCH pathogen has a tendency to invade the brain?
Congenital Rubella ocular Sx (3)
Congenital Rubella cardiac lesions (2)
patent ductus arteriosus
Describe the staining property of the intranuclear inclusions seen in CMV infection.
*also have cytoplasmic inclusions
Describe the staining property of the intranuclear inclusions seen in Herpes simplex virus infection.
Cystic fibrosis pattern of inheritance
What mutation causes cystic fibrosis?
mutation of CF transmembrane conductance regulator on chromosome 7
*normal fx: phosphorylation of CFTR by protein kinase A using cAMP controls the chloride channel in the apical membranes of eccrine glands.
Describe the concentration of chloride and sodium in the sweat of a patient with cystic fibrosis.
increased chloride and sodium concentration
Describe the concentration of chloride and sodium in the airway of a patient with cystic fibrosis.
stimulated chloride secretion to the gland lumen does not occur
increased sodium and water reabsorption leads to dehydration of the mucous layer
What is the most common mutation in cystic fibrosis?
Describe the pathogenesis of cystic fibrosis in the lungs and pancreas.
chronic pulmonary disease with repeated infections
decrease in exocrine pancreas function leads to atrophy and malabsorption
What happens to the mucus-secreting cells of the lungs in cystic fibrosis?
marked hyperplasia and hypertrophy
List 2 consequences of bronchiolar plugging in cystic fibrosis.
emphysema due to destruction of parenchyma
List 3 consequences of lung infections in cystic fibrosis.
Which lobes of the lung is affected by bronchiectasis in cystic fibrosis?
*normally, bronchiectasis affects the lower lobes
What pancreatic disorder is seen in 85% of patients with cystic fibrosis?
How does cystic fibrosis affect the liver?
focal biliary cirrhosis due to bile duct obstruction
*results in bile duct hyperplasia
How does cystic fibrosis cause azoospermia and infertility in males?
obstruction of vas deferens and epididymis <-- atrophy and fibrosis
*95% of males
Name a disorder of the ileum associated with cystic fibrosis.
meconium ileus in 15% of infants with CF
*impaction of meconium in the terminal ileus with subsequent risk of perforation and peritonitis`
Cystic fibrosis Sx related to pancreatic disease
malnutrition --> edema and hypoalbuminemia
failure to thrive
Cystic fibrosis Sx related to respiratory disease
upper respiratory and sinus problems
obstructive pulmonary disease
recurrent pulmonary infections
What systemic disorders are responsible for the majority of morbidity due to cystic fibrosis?
pulmonary disease (80-90% of deaths)
List 2 clinical clues (red flags) seen in children with cystic fibrosis.
rectal prolapse (due to recurrent diarrhea)
Cystic fibrosis Dx (2)
Phenylketonuria pattern of inheritance
What enzyme is deficient in phenylketonuria?
phenylalanine hydroxylase (hepatic enzyme)
What mutation causes phenylketonuria?
point mutation in the PAH gene on 12q
*results in hyperphenylalaninemia and formaion of phenylketones
List 2 ways in which hyperphenylalaninemia (phenyketonuria) causes irreversible brain damage.
complete interference with amino acid transport system in brain
inhibits synthesis of neurotransmitters
infant normal at birth
mental retardation within a few months
fair skin, blond hair, blue eyes (phenylalanine is involved in melanin production)
restriction of phenylalanine diet
Galactosemia pattern of inheritance
What enzyme is deficient in galactosemia?
galactose-1-phosphate uridyl transferase
What is the function of galactose-1-phosphate uridyl transferase (galactosemia)?
converts galactose to glucose
*reverses many of the morphologic changes
Describe the microscopic findings in the liver of an infant with galactosemia.
extensive and uniform fat accumulation in liver
marked bile ductal proliferation
*cirrhosis may develop in a few months
Dubin-Johnson syndrome pattern of inheritance
Disease associated with "black" liver
Disorder characterized by defective transport of conjugated bilirubin from hepatocytes to canalicular lumen
Histology shows accumulation of coarse, iron free, dark brown granules in hepatocytes and Kupffer cells.
Electron microscopy shows lysosomes filled with pigment composed of polymers of epinephrine metabolites.
Most patients are asymptomatic, except for mild intermittent jaundice (2-5 mg/dL)
Disorder characterized by a defect in the excretion of conjugated bilirubin into the biliary canaliculi with the bilirubin being absorbed into the blood--pigment deposition is low-grade
Rotor syndrome Sx
attacks of intermittent epigastric discomfort
occasional abdominal pain
Histology of the liver shows low-grade pigment deposition, dissociation of hepatocytes, necrotic foci, and fibrin precipitation.
Review common malignant neoplasms of infancy and childhood.
Most adult malignancies are _____.
*many pediatric tumors are "embryonal"