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AUBF LEC MIDTERMS > URINE SCREENING > Flashcards

URINE SCREENING Flashcards

1
Q
  • Presence of abnormal metabolites in urine
  • May be detected by observations of alert lab personnel when performing
    urinalysis
A

METABOLIC DISORDERS

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2
Q

result from disruption of a normal metabolic pathway

A

Overflow disorders

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3
Q

are caused by malfunctions in the tubular reabsorption
mechanism

A

Renal disorders

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4
Q
  • Main cause: disruption of enzyme function
  • Failure to inherit the gene that produces the enzyme
  • Organ malfunction from disease or toxic reactions
A

OVERFLOW DISORDERS

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5
Q

METABOLITE TESTED - phenylalanine

CONFIRMATORY TESTING - Decreased enzyme activity

DISORDER ?

A

Phenylketonuria

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6
Q

METABOLITE TESTED - 17-hydroxy-progesterone

CONFIRMATORY TESTING - Plasma 17-OHP, Na, K, cortisol and RBS

DISORDER ?

A

Congenital adrenal
hyperplasia

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7
Q

DISORDER - Maple syrup urine
disease

CONFIRMATORY TESTING - Increased branched chain amino acid levels

METABOLITE TESTED ?

A

leucine

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8
Q

DISORDER -Congenital
hypothyroidism

CONFIRMATORY TESTING - High serum TSH and low FT4

METABOLITE TESTED ?

A

TSH

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9
Q

DISORDER - Galactosemia

METABOLITE TESTED - Total galactose

CONFIRMATORY TESTING ?

A

Serum galactose and
enzyme activity

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10
Q

DISORDER - G6PD deficiency

METABOLITE TESTED - G6PD enzyme activity

CONFIRMATORY TESTING ?

A

quantitative analysis of the
rate of NADPH production from NADP

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11
Q

METABOLIC DISORDERS
give me the 5.

A
  • AMINO ACID DISORDERS
  • PORPHYRIN DISORDERS
  • MUCOPOLYSACCHARIDE DISORDERS
  • PURINE DISORDERS
  • CARBODHYRATE DISORDERS
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12
Q

AMINO ACID DISORDERS
Branched-chain amino acid disorders
give me the 2.

A
  • MSUD
  • Organic acidemias
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13
Q

PHENYLKETONURIA
* Increased phenylalanine levels due to defective or absent of ____

A

phenylalanine hydroxylase

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14
Q

URINE TEST FOR PHENYLKETONURIA

  • Ferric chloride tube test
  • Detects phenylpyruvic acid
  • 5 drops of ____ to 1 mL of urine
  • A permanent ____ color is
    positive
A

10% ferric chloride (1)
blue-green (2)

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15
Q

Accumulation of excess tyrosine in the plasma (tyrosinemia) produces urinary
overflow

A

TYROSYLURIA

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16
Q

Tyrosinemia Type 1

A

fumarylacetate hydrolase

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17
Q

Tyrosinemia type 2

A

tyrosine aminotransferase

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18
Q

Tyrosinemia type 3

A

p-hydroxyphenylpyruvic acid dioxygenase

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19
Q

URINE TEST FOR TYROSYLURIA
___ color indicates presence of tyrosine metabolites

A

Orange-red

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20
Q

product of a second metabolic
pathway for tyrosine

A

Melanin

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21
Q

Increased levels of melanin:

A

melanuria

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22
Q

Deficient production of melanin results in

A

albinism

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23
Q

Failure to inherit the gene that codes for the enzyme homogentisic acid oxidase

A

ALKAPTONURIA

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24
Q

URINE TESTS FOR ALKAPTONURIA

Ferric chloride test:

A

deep blue color

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25
Q

URINE TESTS FOR ALKAPTONURIA

  • Clinitest
A

yellow precipitate

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26
Q

URINE TESTS FOR ALKAPTONURIA
Homogentisic acid test

___ mL 3% silver nitrate + ___ mL urine

A

4 (1)
0.5 (2)

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27
Q
  • a defect or deficiency of the
    branched chain ketoacid
    dehydrogenase complex in
    which elevated quantities of
    leucine, isoleucine, valine,
    and their corresponding
    oxoacids accumulate in body
    fluids
A

MAPLE SYRUP URINE DISEASE (MSUD)

28
Q

is the most severe and common form with symptoms of poor suck, lethargy, hypo and hypertonia, opisthotonic
posturing, seizures, and coma developing 4-7 days after birth

A

Classical MSUD

29
Q

MSUD MANAGEMENT AND TESTING

  • Management:
A

dietary restriction of branchedchain amino acids

30
Q

MSUD MANAGEMENT AND TESTING

Screening test: ____?? (the test lang)
* 1 mL of urine+ 10 drops of 0.2% 2,4-DNPH in 2N HCl

A

2,4-dinitrophenylhydrazine test

31
Q
  • Common organic acidemias
A
  • Propionic acidemia
  • Methylmalonic acidemia
  • Isovaleric acidemia
32
Q
  • Presence of intestinal disorders that prevent the metabolism of tryptophan
  • Excessive amounts of tryptophan is converted to indole and reabsorbed in the circulation
A

INDICANURIA

33
Q

Caused by a mutation on the gene that encodes for the B0AT1 protein

A

HARTNUP DISEASE

34
Q

_____ : pellagra-like skin eruptions

A

Niacin deficiency

35
Q

Serotonin is produced from typtophan by argentaffin cells in the intestine
* Only small amounts of its degradation product, 5-hydroxyindoleacetic acid, are released in urine

A

5-HIAA

36
Q

A carcinoid tumor that produces excess serotonin and results into elevated urinary levels of 5-HIAA

A

Argentaffinoma

37
Q

defect in the renal tubular transport of amino acids

A

Cystinuria

38
Q

inherited defect in the lysosomal membranes that results
into cystine accumulation in cells

A

Cystinosis

39
Q

defect in the metabolism of methionine

A

Homocystinuria

40
Q
  • inheritable, autosomal recessive genetic defect that affects the proximal renal tubular
    reabsorption of cystine
A

CYSTINURIA

41
Q

CYANIDE-NITROPRUSSIDE TEST FOR CYSTINE

3 mL of urine + 2 mL ____

A

sodium cyanide

42
Q
  • a rare autosomal recessive lysosomal storage disorder in which the amino acid
    cystine accumulates in the lysosomes of cells
A

CYSTINOSIS

43
Q

CYSTINOSIS
* Most common type:

A

infantile nephropathic type

44
Q
  • Deficiency of cystathionine synthase enzyme which is part of methionine
    metabolism
A

HOMOCYSTINURIA

45
Q

PORPHYRIN DISORDERS
____ color is an indicator of possible porphyria

A

Red or port wine urine

46
Q

when porphyrins are the major accumulation products, ____ is the
distinguishing clinical feature.

A

photosensitivity

47
Q

PORPHYRIN DISORDER TESTS

____ test for Porphobilinogen
* 2 drops urine + 2 mL Hoesch reagent

A

Hoesch Screening Test

48
Q

PORPHYRIN DISORDER TESTS
____ test
* Equal parts (≈2 mL each) of urine and Ehrlich’s reagent are mixed in a tube

A

Watson-Schwartz Test

49
Q

Watson-Schwartz Test
Extraction is performed by adding ___ (≈2 to 5 mL) to the mixture, followed by vigorous shaking

A

chloroform

50
Q

WATSON-SCHWARTZ TEST

  • Soluble to chloroform and butanol
  • Red color in chloroform layer and butanol layer
A

Urobilinogen

51
Q

WATSON-SCHWARTZ TEST
* Insoluble to chloroform and butanol
* Red color remains in the urine-acetate mixture

A

Porphobilinogen

52
Q

WATSON-SCHWARTZ TEST
* Insoluble to chloroform, soluble to butanol
* Red color in urine-acetate layer in chloroform tube, butanol layer in butanol tube

A

Other Ehrlich-reactive substance

53
Q

caused by a deficiency of an enzyme responsible for the degradation of a metabolic product, whose
accumulation results in lysosomal malfunction and disease

A

MUCOPOLYSACCHARIDE DISORDERS

54
Q

molecular defect in Hurler disease is in the activity of _____

A

α-L-iduronidase

55
Q

molecular defect is in the enzyme iduronate sulfatase

A

HUNTER SYNDROME

56
Q
  • Exclusive excretion of heparan sulfate
A

SANFILIPPO SYNDROME

57
Q
  • deficiency of hypoxanthine-guanine phosphoribosyltransferase, the enzyme is responsible for recycling purines
  • causes an increase in guanine and hypoxanthine, which eventually gets converted into uric acid
A

Lesch-Nyhan disease

58
Q

presence of sugar in urine

A

Melituria

59
Q

CARBOHYDRATE DISORDERS
* Melituria: presence of sugar in urine
* Primary concern : ______

A

galactosuria

60
Q

an inborn error of carbohydrate
metabolism characterized by elevated
levels of galactose and its metabolites due to enzyme deficiencies

A

GALACTOSEMIA

61
Q

In classic galactosemia, the enzyme that is reduced or missing is called ____ which enables the body to break down
galactose into glucose

A

galactose-1- phosphate uridyl transferase (GALT)

62
Q
  • Accumulation of galactose in the body is not good
  • feeding problems, failure to thrive (most common initial clinical symptom), hepatocellular
    damage, bleeding, and sepsis in untreated infants which lead to mental retardation
A

GALACTOSEMIA

63
Q

GALACTOSEMIA

in approximately 10% of individuals, _____are present

A

cataracts

64
Q

GALACTOSEMIA MANAGEMENT
Dietary elimination of ___

A

milk and milk products containing lactose

65
Q

BONUS:

associated with a progressive and severe loss of intellectual processes (such as speech) and motor functions (including walking and swallowing) then ultimately regress to a vegetative state until death

A

SANFILIPPO SYNDROME

AUBF LEC MIDTERMS (3 decks)

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