5: Diseases Of Childhood And Infancy Flashcards
Fetal hydrops
Accumulation of edema fluid in fetus during intrauterine growth
Two general patterns of fluid accumulation in fetal hydrops
- Hydrops fetalis: generalized edema
2. Cystic hygroma: localized edema
Treatment for immune fetal hydrops
RhIg containing anti-D Abs
How to ID fetus that is at-risk for immune hydrops fetalis
Amniocentesis and chorionic villus sampling
Treatment for cases of severe intrauterine hemolysis
Fetal intravascular transfusions via umbilical cord + early delivery
Goals of treatment for pts with IEM
Prevention of further accumulation of harmful substances, correction of metabolic abnormalities, elimination of toxic metabolites
Most common lethal genetic disease in Caucasians
Cystic fibrosis, 1 in 20 Caucasians are carriers
The sine qua non of classic cystic fibrosis
Salty sweat
Steps in dxing cystic fibrosis
- ID characteristic clinical findings
- Sweat Cl test
- Immunoreactive trypsinogen (IRT)
- CFTR gene sequencing
- Nasal transepithelial potential difference
Three types of medications used for cystic fibrosis and how they work
- Potentiators: keep gate of CFTR channel open
- Correctors: assist in proper folding of CFTR protein
- Amplifiers: increase amount of CFTR protein cell makes
What is the only other thing that causes more deaths in children than cancer?
Accidents
Most frequent areas for childhood cancers to arise in
Hematopoeitic system, nervous system, soft tissue, bone, kidney
Neuroblastic tumors
Tumors of the sympathetic ganglia and adrenal medulla that are derived from primordial NCCs populating these sites
Most common extracranial solid tumor of childhood
Neuroblastoma
Median age at diagnosis for neuroblastomas
18 months
