Intro - SCID Flashcards
Newborn screening identifies conditions affecting ___ or ___
Early __, ___ and ___ can prevent ___, minimize __
typical format for screening
H___ for congenital deafness
P___ for critical congential heart disease
H___ to check others
long term health/survival
detection, dx, intervention, death/disability
hearing test
pulse oximetry test
Heelstick
AA disorders (4)
Urea cycle defects (2)
Lysosomal storage disorders (2)
Endocrine disorders (2)
C
C
H
S
MSUP, homocystinuria, classic PKU, tyrosinemia type 1
argininosuccinic aciduria, citrullinemia type 1
Glycogen storage Dz type 2 (Pompe), Mucopolysaccharidosis (Hurler syndrome)
Primary congenital hypoT
CAH
CF
critical congenital HD
hearing loss
SCID
Organic acidemia P Methylmalonic ademia \_\_ and \_\_ I 3Methylcrotonyl COA \_\_ 3Hydroxy 3 methylglutaric \_\_ Holocarboxylase \_\_\_ B Glutaric \_\_\_
Other met disorders
B
C
X linked
propionic acidemia methylmalonyl COA mutase cobalamin do isovaleric acidemia carboylase defic aciduria synthase def B ketothiolase defic acidemia type 1
Biotinidase def
classic galactosemia
Adrenoleukodystrophy
FA oxidation disorders
Carnitin __/__ defect
__/__/__ acyl COA dehydro defic
T
Early ID of __ w initation of interventions can __
testing uses __ OAE or __ ABR (Aka BRAERT)
OAE measures __ emissions generated by sound, tests for fxn of __
performed by placing earplug microphone over __ and measuring __ made by cochlea
ABR measures __ to sound, testing fxn of __
place device that __ over ear using ___ to detect trsm of sound impulse to __
uptake/transport
medium/very/long chain
trifxnal protein defic
perm hearing loss
otoacoustic emission, auditory brainstem response, auditory evoked reponse testing
optoacoustic, cochlea
infant’s ear, weak echo
brain response, auditory nerve
emits clicking sound, scalp electrodes, brainstem
Both OAE and ARB are __ for hearing loss, so ___ is not excluded
infants w positive test require ___ to confirm ___
both tests require ___
can be affected by __/__ conditions, such as C, D, M
infant w normal hearing can have + test if __ or has one of __
surrogates, hearing loss
further testing
calm/sleeping infant
external/middle ear
canal stenosis, debris, middle ear effusion
not asleep, conditions
Critical CHD
defined as any HD requiring __/__ in 1st years of life
screening detects cx that __ is dependent on __ or those causing __
A- limit blood flow to \_\_ C- limit blood flow to \_\_ E P- limit blood flow to \_\_\_ T T T T T
many are __ at birth, others over ___
surgery/intervention
blood flow, open DA, cyanosis
aortic stenosis, aorta coarctation, descending aorta ebstein anomaly pulm stenosis, lungs Tet of Fallot Total anomalous pulm vein cong transposition of great arteries tricuspid atresia truncus ateriosus
sx, wks/mn
CCHD screening via measuring ___ in right hand __ and either __ (postductal)
measuring ___ O2 sat detects HD resultng from __ of deoxygenated blood from __ through ___ through
positive screen whein O2 sat ___
infant w positive screen requires ___ before discharge to determine if __ is present
__ are possible as hypoxemia can occur from S__, R__, P__, P__ or P__
O2 sat, preductal, foot
postductal, right to left shunt, PA, aorta, DA
95%, 3%
echo, CCHD
false positives
sepsis, RDS, PPHTN, Pneumonia, PTX
Congenital hypoT
preventable cause of __
__ depends on age at which __ is initiated
infants __ have sx, develop over ___
normal thyroid develops from __ in floor of __
as tongue grows, cells descend along ___ in neck to reach position anterior to ___ at wk ___
MC arise from __
others due to inborn errors of ____ (__ deficiencies of ___ enzymes)
intellectual disability
IQ, treatment
rarely, mnths
endoderm, pharynx
thyroglossal duct, trachea, 8-10
thyroid dysgenesis, thyroid hormone synth, AR, thyroid biosynth
Causes of thyroid dysgenesis E- failure of thyroid tissue \_\_ mcc is \_\_ A- failure of thyroid tissue \_\_ H- \_\_ of thyroid tissue
stress of birth results in surge of __ w/in 30min of delivery, causing rise of __ and __ around 24 hrs
screening programs measure __ from heel stick after __ of life
False positive tests can occur w __ of surge
ectopy, migrate
lingual thyroid
agenesis, development
hypoplasia, underdevelopment
TSH, T3/T4
thyroid hormones, 24hrs
inconsistent timing
High TSH, low T4
high TSH, normal T4
normal TSH, low T4
causes and next step
Primy hypoT
treat
normal infant w delayed TSH surge, primary hypoT (less cm)
repeat test
prematurity, TBG def, central hypoT
repeat test
Hemoglobinopathies
__ can lead to susceptibility w __
screening consists of __ to identify patterns
Hb F is __, __ Hb throughout fetal development
by 6m age, normal indiv switch to __ (A2B2)
Hb pattern high to low, dx, next steps
F-A, __, ___
F-A-S, ____, C___
F, ___, I___, C____
SCA, bacterial infect
Hb electrophoresis
A2Y2, predominant
HbA
normal, none
Sickle Cell trait, counsel fam
B thallssemia major, immediate repeat Hb electro/counsel
Hb pattern high to low, dx, next steps
F-S, __, I__, C__, A__
F-S-A, ___/__, C__, H__
F-A-C, ___, ___
F-S-C, ___, C___, R____
sickle cell dz, immediate repeat Hb electro/counsel/amoxicilin proph
HbS/B Thal, counsel/Hb electro in 3-6m
Hb C carrier, none
Hb SC dz, counsel/Hb electro in 3-6m
Newborn screening for CF performed by measuring ___ in blood
if elevated, DNA analysis for __ gene mutation performed
__ is precursor to ___ and is released into blood if release of ___ compromised
most infants have __ at birth, levels return to normal at __
must have ___ to confirm dx of CF
high IRT levels can occur in __ and __
___ analysis is not perfect
pt w one gene mutation can have ___ or be ___
immunoreactive trypsin (IRT)
CFTR
IRT, trypsin, panc enzymes
inc IRT, 1m
sweat chloride test
CF carriers, premature infant
DNA mutation
CF, carrier
SCID
presents w ___, __ and ___
prevent __ and provide __ for growth
typically deficient in ___
screen through measurement of ___ (TRECs)
T cell development in __ requires __ arrangements to encode __ (VDJ) segments
rearrangements produce ___ of DNA to form TRECs
severe infect, diarrhea, FtT
infections, nutrition
T cells, TCR excision circles
thymus, gene, variable/diversity/joining
excised pieces
Low/absent TREC indicates poor __ prod, incomplete T cell __, or loss of __
most cases of SCID have low __
fxnal defects after __ are not detected
ie missing Z__, M__, H__ (aka ___)
infant w positive screen (__/__ TRECs) need __
includes __, ___ and __ to quantify lymphs
T cell, development, immature T cells
T cell numbers
VDJ recomb
ZAP70, MHC class 2, hyperIgM (CD40 ligand def)
low/absent, further screening
CBC, leuk differential, flow cytometry
