Disease of Infancy and Childhood 2 Inborn Errors of Metabolism/Genetic Disorders Flashcards
inborn errors of metabolism and other genetic disorders
what are they? most are what?
abnormalities suggesting inborn error of metabolism
PKU
incidence? common in? not it?
inheritance? caused by? this will lead to?
neuro signs?
other gross signs?
treatment?
females?
maternal PKU? important?
PKU 2
cant convert what to what? shunt pathways? cause?
why light hair/skin?
benign hyperphenyalaninemia?
how to tell apart?
mutations in what for PKU? 2% due to?
Galactosemia
what is it? inheritance? resulting from?
2 variants? more severe one?
accumulation where?
hetero?
most damage where?
CNS?
galactosemia 2
what do you see from birth? within a few days of milk? see what then? first week? few weeks? 6 to 12 months?
mental compared to PKU?
bacteria?
treatment?
CF
what is it? leads to? (common clin features)
incidence? important?
inheritance? although?
CF gene: normal
primary defect what gene/chromo?
structure? allows?
CFTR regulates what other channels? important one? exception for this?
CF gene: normal
functions of CFTR change where?
sweat glands? respiratory and intestinal?
CFTR regulates transport of what else? this is important for?
CF: mutational spectra and genotype-phenotype correlation
what classes? each is a defect in?
mutations and how severe the phenotype is
severe what mutations?
mild?
correlates to pancreatic insuffic?
clin features other than CFTR can be seen? such as?
nonclassic? atypical? (CF)
Genetic and environ modifiers
genes other than CFTR? even though its thought as?
most common lower resp infection?
CF morph
sweat glands unaffected in what way?
pancreatic- mild? severe? can cause what to happen?
CF morph
liver- what happens? common in biopsy?
salivary gland- type of changes?
pulm- what do you see? lung infections?
infertility? aka? due to?
CF clin
symptoms appear when? often come to clinic because of?
CF
exocrine pancreatic insufficiency- associated with?
malabsorption of?
lead to?
endocrine insufficiency?
cardioresp- most common cause of?
CF
liver-important due to?
you see?
diagnosis?
may have normal sweat?
gold standard diagnosis?
treatment?
SIDS what is it?
SUID?
when infant usually die?
SIDS epidemiology
leading cause of death for what age group?
incidence?
90% SIDS occur when?
apnea monitors?
SIDS morph
findings postmortem?
recent what?
CNS?
autopsy findings?
SIDS pathogenesis
type of condition?
triple-risk model? 3
most compelling hypothesis delayed development of?
also signaling?
increased risk for what pops?
what must be ruled out?
prone position?
SIDS
maternal risk factors? 4
enviro stressors?
SUID common cause?
Risk factors of SIDS
