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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
URINE TESTS FOR ALKAPTONURIA * Clinitest
yellow precipitate
26
URINE TESTS FOR ALKAPTONURIA Homogentisic acid test ___ mL 3% silver nitrate + ___ mL urine
4 (1) 0.5 (2)
27
* 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
MAPLE SYRUP URINE DISEASE (MSUD)
28
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
Classical MSUD
29
MSUD MANAGEMENT AND TESTING * Management:
dietary restriction of branchedchain amino acids
30
MSUD MANAGEMENT AND TESTING Screening test: ____?? (the test lang) * 1 mL of urine+ 10 drops of 0.2% 2,4-DNPH in 2N HCl
2,4-dinitrophenylhydrazine test
31
* Common organic acidemias
* Propionic acidemia * Methylmalonic acidemia * Isovaleric acidemia
32
* Presence of intestinal disorders that prevent the metabolism of tryptophan * Excessive amounts of tryptophan is converted to indole and reabsorbed in the circulation
INDICANURIA
33
Caused by a mutation on the gene that encodes for the B0AT1 protein
HARTNUP DISEASE
34
_____ : pellagra-like skin eruptions
Niacin deficiency
35
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
5-HIAA
36
A carcinoid tumor that produces excess serotonin and results into elevated urinary levels of 5-HIAA
Argentaffinoma
37
defect in the renal tubular transport of amino acids
Cystinuria
38
inherited defect in the lysosomal membranes that results into cystine accumulation in cells
Cystinosis
39
defect in the metabolism of methionine
Homocystinuria
40
* inheritable, autosomal recessive genetic defect that affects the proximal renal tubular reabsorption of cystine
CYSTINURIA
41
CYANIDE-NITROPRUSSIDE TEST FOR CYSTINE 3 mL of urine + 2 mL ____
sodium cyanide
42
* a rare autosomal recessive lysosomal storage disorder in which the amino acid cystine accumulates in the lysosomes of cells
CYSTINOSIS
43
CYSTINOSIS * Most common type:
infantile nephropathic type
44
* Deficiency of cystathionine synthase enzyme which is part of methionine metabolism
HOMOCYSTINURIA
45
PORPHYRIN DISORDERS ____ color is an indicator of possible porphyria
Red or port wine urine
46
when porphyrins are the major accumulation products, ____ is the distinguishing clinical feature.
photosensitivity
47
PORPHYRIN DISORDER TESTS ____ test for Porphobilinogen * 2 drops urine + 2 mL Hoesch reagent
Hoesch Screening Test
48
PORPHYRIN DISORDER TESTS ____ test * Equal parts (≈2 mL each) of urine and Ehrlich’s reagent are mixed in a tube
Watson-Schwartz Test
49
Watson-Schwartz Test Extraction is performed by adding ___ (≈2 to 5 mL) to the mixture, followed by vigorous shaking
chloroform
50
WATSON-SCHWARTZ TEST * Soluble to chloroform and butanol * Red color in chloroform layer and butanol layer
Urobilinogen
51
WATSON-SCHWARTZ TEST * Insoluble to chloroform and butanol * Red color remains in the urine-acetate mixture
Porphobilinogen
52
WATSON-SCHWARTZ TEST * Insoluble to chloroform, soluble to butanol * Red color in urine-acetate layer in chloroform tube, butanol layer in butanol tube
Other Ehrlich-reactive substance
53
caused by a deficiency of an enzyme responsible for the degradation of a metabolic product, whose accumulation results in lysosomal malfunction and disease
MUCOPOLYSACCHARIDE DISORDERS
54
molecular defect in Hurler disease is in the activity of _____
α-L-iduronidase
55
molecular defect is in the enzyme iduronate sulfatase
HUNTER SYNDROME
56
* Exclusive excretion of heparan sulfate
SANFILIPPO SYNDROME
57
* 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
Lesch-Nyhan disease
58
presence of sugar in urine
Melituria
59
CARBOHYDRATE DISORDERS * Melituria: presence of sugar in urine * Primary concern : ______
galactosuria
60
an inborn error of carbohydrate metabolism characterized by elevated levels of galactose and its metabolites due to enzyme deficiencies
GALACTOSEMIA
61
In classic galactosemia, the enzyme that is reduced or missing is called ____ which enables the body to break down galactose into glucose
galactose-1- phosphate uridyl transferase (GALT)
62
* 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
GALACTOSEMIA
63
GALACTOSEMIA in approximately 10% of individuals, _____are present
cataracts
64
GALACTOSEMIA MANAGEMENT Dietary elimination of ___
milk and milk products containing lactose
65
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
SANFILIPPO SYNDROME

AUBF LEC MIDTERMS (3 decks)

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