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?

bacteria

*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.

chorioamnionitis

funisitis

pneumonia

sepsis

meningitis

List 3 fetal infections acquired by the hematogenous route.

TORCH infections

congenital syphilis

parvovirus B19

HIV

Others (Listeria, parasitic infections)

Toxoplasmosis

Others --> SLAVE

Rubella

CMV

Herpes simplex

Syphilis

Listeria monocytogenes (late-onset sepsis)

Adenovirus

Varicella

Enterovirus

Which TORCH agent is associated with ascending infection?

Herpes simplex

*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)

cataracts

corneal changes

microphthalmia

Congenital Rubella cardiac lesions (2)

patent ductus arteriosus

septal defects

Describe the staining property of the intranuclear inclusions seen in CMV infection.

basophilic

*also have cytoplasmic inclusions

Describe the staining property of the intranuclear inclusions seen in Herpes simplex virus infection.

Cystic fibrosis pattern of inheritance

autosomal recessive

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.

atelectasis (resorptive)

emphysema due to destruction of parenchyma

List 3 consequences of lung infections in cystic fibrosis.

chronic bronchitis

bronchiectasis

lung abscesses

Which lobes of the lung is affected by bronchiectasis in cystic fibrosis?

upper lobes

*normally, bronchiectasis affects the lower lobes

What pancreatic disorder is seen in 85% of patients with cystic fibrosis?

chronic pancreatitis

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

foul-smelling steatorrhea

malnutrition --> edema and hypoalbuminemia

failure to thrive

Cystic fibrosis Sx related to respiratory disease

upper respiratory and sinus problems

chronic cough

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.

nasal polyps

rectal prolapse (due to recurrent diarrhea)

Cystic fibrosis Dx (2)

Phenylketonuria pattern of inheritance

autosomal recessive

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

Phenylketonuria Sx

infant normal at birth

mental retardation within a few months

fair skin, blond hair, blue eyes (phenylalanine is involved in melanin production)

mousy odor

Phenylketonuria Tx

restriction of phenylalanine diet

Galactosemia pattern of inheritance

autosomal recessive

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

Galactosemia Sx

hepatosplenomegaly

jaundice

hypoglycemia

cataracts

mental retardation

Galactosemia Tx

galactose-free diet

*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

cholestasis

fibrosis

*cirrhosis may develop in a few months

Dubin-Johnson syndrome pattern of inheritance

autosomal recessive

Disease associated with "black" liver

Dubin-Johnson syndrome

Disorder characterized by defective transport of conjugated bilirubin from hepatocytes to canalicular lumen

Dubin-Johnson syndrome

Histology shows accumulation of coarse, iron free, dark brown granules in hepatocytes and Kupffer cells.

Dubin-Johnson syndrome

Electron microscopy shows lysosomes filled with pigment composed of polymers of epinephrine metabolites.

Dubin-Johnson syndrome

Dubin-Johnson Sx

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

jaundice

attacks of intermittent epigastric discomfort

occasional abdominal pain

fever

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 _____.

carcinomas

*many pediatric tumors are "embryonal"

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