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Immunology CCMLS > newborn screening > Flashcards

newborn screening Flashcards

1
Q

newborn genetic screening is done within how many hours of birth?

A

72 hours

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2
Q

newborn genetic screening: amino acid disorders

A

PKU
maple syrup urine disease
homocystinuria

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3
Q

Phenylketonuria

A

PKU
autosomal recessive gene
buildup of phenylalanine in CNS
caused by deficiency of enzyme phenylalanine hydroxylas

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4
Q

clinical signs and symptoms of PKU

A

vomiting
irritability
eczema
seizures
severe mental retardation
urine has mousy smell

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5
Q

testing methods for PKU

A

Immunoassay (direct)
Guthrie Bacterial Inhibition test

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6
Q

Guthrie Bacterial Inhibition test

A

agar w/ Bacillus subtilis spores
B. subtilis inhibited by beta 2 thienyalanine
phenylalanine neutralizes additive and there is growth

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7
Q

treatment of PKU

A

phenylalanine free diet (no diet sodas)

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8
Q

maple syrup urine disease

A

autosomal recessive
deficiency in carboxylation of branched keto acid chain
elevations of leucine, isoleucine, and valine in blood/urine

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9
Q

clinical signs and symptoms of maple syrup disease

A

convulsions
urine maple syrup smell
sever mental retardation
death by 2yrs old

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10
Q

testing for maple syrup disease

A

immunoassay

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11
Q

treatment of maple syrup disease

A

diet low in leucine, isoleucine, and valine

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12
Q

incidence of PKU

A

1/15,000

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13
Q

incidence of maple syrup disease

A

1/200,000

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14
Q

homocystinuria

A

deficiency of cystathionine-B synthase (conversion of methionine to cystine)

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15
Q

homocystinuria has what metabolism build up in body fluids

A

methionine
homocystine
sulfur-containing compounds

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16
Q

clinical presentation of homocystinuria

A

poor bone formation
eye and circulatory problems
mental retardation

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17
Q

testing for homocystinuria

A

immunoassay

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18
Q

treatment of homocystinuria

A

methionine free diet

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19
Q

occurrence of homocystinuria

A

1/100,000

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20
Q

newborn genetic screening: congenital disorders

A

hypothyroidism
congenital adrenal hyperplasia

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21
Q

hypothyroidism

A

congenital hypothyroidism
failure of thyroid gland to produce thyroid hormones
newborn cretinism

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22
Q

clinical appearance of newborn hypothyroidism

A

hypotonic posture
coarse facial features
umbilical hernia

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23
Q

hypothyroidism in newborns prognosis

A

treated immediately return to normal
delayed 3 months only 50% reach IQ of 85

24
Q

testing for newborn hypothyroidism

A

T4 and TSH immunoassay

25
Q

treatment for hypothyroidism

A

L-thyroxin tablets (oral)

26
Q

incidence of newborn hypothyroidism

A

1/3,000- 1/5,000

27
Q

congenital adrenal hyperplasia

A

deficiency in enzymes responsible for production of steroid hormones in adrenal cortex (2,1 hydrolase)
decreased glucocorticoids

28
Q

in congenital adrenal hyperplasia glucocorticoid precursors are converted to androgenic steroids that results in

A

short stature
early puberty
severe acne
virilization and infertility in females
ambiguous genitalia
electrolyte unbalance

29
Q

testing for congenital adrenal hyperplasia

A

assay for hormones

30
Q

treatment of congenital adrenal hyperplasia

A

hormone replacement

31
Q

incidence of congenital adrenal hyperplasia

A

mild: 1/100- 1/1,000
severe: 1/14,000

32
Q

hemoglobinopathies in newborn genetic screening

A

problems in abnormal Hgb production
anemia
ab. RBC shape impacts ciruclation and damage to cells

33
Q

most common hemoglobinopathies

A

sickle cell
thalassemia
Hb S/C disease

34
Q

clinical symptoms of hemoglobinopathies

A

pain
amemia
frequent infections

35
Q

treatment of hemoglobinopathies

A

supportive
transfusions

36
Q

testing of hemoglobinopathies

A

isoelectric focusing technique: all Hgb charged depending on aa sequence
Hgb stops at isoelectric point

37
Q

enzyme disorders in newborn genetic screening

A

galactosemia
biotinase deficiency
cystic fibrosis

38
Q

galactosemia

A

galactose pathway
can affect any part of pathway (galactokinase, gal-a-p undyl transferase, udp gal 4 epimerase, udp glucose)

39
Q

clinical symptoms of galactosemia

A

vomiting
jaundice
hepatomegaly
cataracts
cirrhosis
mental retardation

40
Q

testing for galactosemia

A

immunoassay

41
Q

treatment of galactosemia

A

galactose free diet

42
Q

occurrence of galactosemia

A

1/70,000

43
Q

cystic fibrosis

A

hereditary disorder w/ lung congestion and infec. and malabsorption of nutrients by pancreas

44
Q

screening test for cystic fibrosis

A

increased trypsin levels in blood
confirm w/ sweat chloride test

45
Q

treatment of cystic fibrosis

A

supportive
gene therapy

46
Q

occurrence of cystic fibrosis

A

1/3,000

47
Q

biotinase deficiency

A

failure to prod. biotinase

48
Q

clinical symptoms of biotinase deficiency

A

damage to CNS
seizures
mental retardation
hair loss
skin rashes
sudden death

49
Q

testing for biotinase deficiency

A

assay for enzyme level

50
Q

treatment of biotinase deficiency

A

vitamin supplements

51
Q

incidence of biotinase deficicency

A

1/40,000

52
Q

newborn genetic screening: organic acid metabolism disorders

A

isovaleric acidemia
glutaric acidemia
can’t process aa due to enzyme malfx causing organic acid to build up

53
Q

newborn genetic screening fatty acid oxidation disorders

A

enzymatic deficiencies impacting fat breakdown and energy metab. from fat conversion
short and long chain enzyme deficiencies

54
Q

other newborn genetic screening: highest scoring diseases

A

medium chain acyl CoA dehydrogenase
congenital hypothyroidism
phenylketonuria

55
Q

other newborn genetic screening: 2nd highest scoring diseases

A

biotinidase deficiency
sickle cell
congenital adrenal hyperplasia

56
Q

other newborn genetic screening; Colorado added testing

A

fatty acid
organic acid
aa disorders
immunoassay testing

Immunology CCMLS (12 decks)

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