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Pedia > Newborn Screening > Flashcards

Newborn Screening Flashcards

1
Q

Newborn Screening

A 
Congenital Hypothyroidism
Congenital Adrenal Hyperplasia
Galactosemia
Phenylketonuria
Glucose 6 Phosphate Dehydrogenase Deficiency
MSUD
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2
Q

On what day of life is NBS done

A

24-48 hrs

<24 hrs repeat at 2 weeks old

PRETERM - 5-7 days

can be done until 1 month (for sick babies)

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3
Q

RA 9288

A

Newborn Screening Test

covers 28 diseases

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4
Q

CONGENITAL HYPOTHYROIDISM

A

macroglossia
mental and somatic retardation
delayed tooth eruption
prolonged physiologic jaundice > 14 days

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5
Q

Expanded Newborn Screening

6-28 diseases

A 
Hemoglobinopathies
Disorder of AA and organic acid metabolism
FA oxidation
Carbohydrate metabolism
Biotin metabolism
Cystic fibrosis
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6
Q

AR disorders of cortisol biosynthesis

Deficiency in cortisol – INCREASED corticotropin (ACTH) – adrenocortical hyperplasia and overproduction of intermediate metabolites

A

Congenital Adrenal Hyperplasia

PATHWAY:
mineralocorticoid deficiency or excess
incomplete virilization or precocious puberty in males
virilization or sexual infantilism in females

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7
Q

Enzyme deficient in CAH (90%)

A

21 hydroxylase enzyme

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8
Q

Enzyme being tested in CAH

A

17 hydroxyprogesterone (elevated)

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9
Q

Lab findings in CAH

A

HYPOnatremia
HYPERkalemia
HYPOglycemia

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10
Q

17 alpha hydroxylase deficiency

XY: atypical genitalia, undescended testes

XX: lacks secondary sexual devt

DELAYED PUBERTY

A 
INCREASED mineralocorticoid
DECREASED cortisol
DECREASED sex hormone
HYPOkalemia
HPN

decreased androstenedione

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11
Q

21 hydroxylase deficiency

MC
present in infant (salt wasting) or childhood (precocious puberty)

XX:virilization

A 
DECREASED mineralocorticoid
DECREASED cortisol
INCREASED sex hormone
HYPERkalemia
DECREASED BP

increased renin
increased 17 hydroxyprogesterone

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12
Q

11 B hydroxylase deficiency

Presents in infancy (severe HPN) or childhood (precocious puberty)

XX: virilization

A 
DECREASED aldosterone
INCREASED 11 DEOXYCORTICOSTERONE (INCREASED BP)
DECREASED cortisol
INCREASED sex hormone
HYPOkalemia
HPN

decreased renin

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13
Q

Treatment for CAH

A

Glucocorticoid replacement - HYDROCORTISONE

Mineralocorticoid replacement - FLUDROCORTISONE

Surgical management

Prenatal management - DEXAMETHASONE (for females only)

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14
Q

Episodic or chronic hemolytic anemia

Symptoms develop 1-2 days after exposure to a substance with oxidant properties - sulfonamides, nalidixic acid, nitrofurantoin, chloramphenicol, antimalarials, vitamin K analogs, ASA, benzene, naphthalene

A

G6PD deficiency

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15
Q

3 distinct enzyme deficiencies in Galactosemia

A

Galactose 1 phosphate uridyltransferase deficiency (GALT) - classic form

Galactokinase deficiency (GALK)

Galactokinase 4 epimerase deficiency (GALE)

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16
Q

Galactosemia

A

Accumulation of galactose 1 phosphate and uridine diphosphate galactose – KIDNEY, LIVER, BRAIN

feeding intolerance, vomiting, jaundice, convulsions, lethargy, hypotonia, mental retardation

at INCREASED RISK for E. COLI NEONATAL SEPSIS

17
Q

Presents with CATARACTS

A

Galactokinase Deficiency (GALK)

18
Q

Treatment for Galactosemia

A

Lactose free milk

19
Q

Long term sequelae of galactosemia

A

ovarian failure
devt delay
learning disability

20
Q

Enzyme deficient in phenylketonuria

A

Phenylalanine hydroxylase

deficiency – HYPERPHENYALANINEMIA

21
Q

Effects of excessive phenylalanine

A

excess phenyalanine – transaminated to PHENYLPYRUVIC ACID or decarboxylated to PHENYLETHYLAMINE – disrupts normal metabolism – BRAIN DAMAGE

22
Q

MC manifestation of phenylketonuria (without treatment)

A

DEVELOPMENTAL DELAY

23
Q

Phenylketonuria

A 
Severe vomiting
hypertonic
hyperactive DTRs
seizures
older hyperactive with purposeless movements
rhythmic rocking and athetosis

UNPLEASANT MUSTY ODOR

24
Q

Kidney, Liver, Brain

A

Galactosemia

25
Q

Musty odor, neurologic manifestations, gradual

A

Phenylketonuria

26
Q

Maple syrup odor, neurologic manifestation, earlier in onset

A

MSUD

27
Q

Chronic or acute hemolytic anemia

Triggered by oxidative stress

A

G6PD

28
Q 
Normal at birth
Ambiguous genitalia
Vomiting
Sexual and somatic precocity
Hyponatremia, Hyperkalemia, Hypoglycemia
A

CAH (21 hydroxylase deficiency)

29
Q

Delayed physical, mental and sexual devt
Macroglossia
GDD

A

Congenital hypothyroidism

30
Q

Accumulation of branched chain keto acid toxic to the BRAIN - leucine, isoleucine, valine

defective activity of the enzyme branched chain alpha keto acid dehydrogenase complex

A

Maple Syrup Urine Disease (MSUD)

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