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MICROSCOPIC, MET. DISORDERS Flashcards

1
Q

URINE SEDIMENT PREPARATION

  1. Transfer _____ of urine in a test tube (recommended volume = _____)
  2. Centrifuge tube at _____RCG _____mins.
  3. Decant urine (______ urine remains in the tube)
  4. Transfer _____ sediment to glass slide with 22 x 22 mm coverslip
  5. Examined under ____ HPF & ____ LPF using light microscope
A
  1. 10-15 mL ; 12 mL
  2. 400 RCF for 5 minutes
  3. 0.5 or 1.0 mL
  4. 20 uL (0.02 ml)
  5. 10 HPF ; 10 LPF

KEEP IN MIND!
- If <12 mL urine is available for microscopy, centrifuge 3 mL of it
- If <3ml urine is available, examine sediment without centrifugation
- RCF = 105 x radius in centimeters x RPM2
- Slides are 1st examined under LPO to detect casts
- Use HPO for further identification of casts

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2
Q

used to clean opticaL surfaces?

A

Lens paper

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3
Q

used to clean Contaminated lens?

A

Commercial lens paper

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4
Q

used remove OIL on lens?

A

DRY lens paper

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5
Q

BASIC COMPONENTS OF THE STANDARD LIGHT MICROSCOPE

it performs initial focusing (for LPO & SO)

A

coarse adjustment knob

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6
Q

BASIC COMPONENTS OF THE STANDARD LIGHT MICROSCOPE

-focuses and controls the light on the spx
-Aperture diaphragm that controls the amount & angle of light

A

condenser

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7
Q

BASIC COMPONENTS OF THE STANDARD LIGHT MICROSCOPE

-Rotate to adjust for interpupillary distance
-Magnify image (x10 - secondary magnification) formed by objective lens

A

ocular / eyepiece

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8
Q

BASIC COMPONENTS OF THE STANDARD LIGHT MICROSCOPE

Sharpens image (for HPO & OIO)

A

Fine adjustment knob

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9
Q

BASIC COMPONENTS OF THE STANDARD LIGHT MICROSCOPE

Lenses which form primary magnification (initial
image of specimen)

A

objectives

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10
Q

BASIC COMPONENTS OF THE STANDARD LIGHT MICROSCOPE

use to rotate objectives

A

revolving nosepiece

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11
Q

BASIC COMPONENTS OF THE STANDARD LIGHT MICROSCOPE

regulate the intensity of light

A

rheostat

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12
Q

SEDIMENT STAINS

most commonly used supravital stain

A

Sternheimer - Malbin (SM)

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13
Q

SEDIMENT STAINS

composition of Sternheimer - Malbin (SM)

A

(Crystal violet + Safranin O)

Available as KOVA & Sedi stain

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14
Q

SEDIMENT STAINS

(Supravital stain)
Differentiates WBCs from RTE cells

A

Toluidine blue

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15
Q

SEDIMENT STAINS

  • lysing agent
    -Lyses RBCs, enhances nuclei of WBCs
  • Distinguishes RBCs from WBCs, yeast, oil droplets & crystals
A

2% acetic acid

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16
Q

SEDIMENT STAINS

Stains triglycerides and neutral fats orange-red (cannot stain cholesteral)

A

Lipid stains
(Oil Red O and Sudan III)

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17
Q

SEDIMENT STAINS

Identifies urinary eosinophils ; Trichinella spiralis (nematode)

A

Hansel stain

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18
Q

SEDIMENT STAINS

composition of Hansel stain?

A

Hansel stain
(Eosin Y + Methylene blue)

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19
Q

SEDIMENT STAINS

Identifies hemosiderin/iron

A

Prussian blue (Rous test)

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20
Q

SEDIMENT STAINS

Identifies Ferrous (Fe2+)

A

Perl’s Prussian blue

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21
Q

SEDIMENT STAINS

Identifies Ferric iron (Fe3+)

A

Turnbull’s blue

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22
Q

SEDIMENT STAINS

stains DNA

A

Phenathridine (orange)

dine—dna

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23
Q

SEDIMENT STAINS

Stains nuclear membranes. mitochondria &
cell membranes (wbc elements)

A

Carbocyanine (green)

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24
Q

SEDIMENT CONSTITUENTS

  1. NV of RBCs
  2. NV of WBCs
  3. NV of Eosinphil
A
  1. NV of RBCs = 0-2 or 0-3/HPF
  2. NV of WBCs = 0-5 or 0-8/HPF
  3. Normal value = 1%
    Significant = >1% (associated w/ drug-induced interstitial nephritis)
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25
Q

SEDIMENT CONSTITUENTS

  1. Hypertonic urine, RBC will?
  2. Hypotonic urine, RBC will?
  3. Dysmorphic, with projections, fragmented RBC (spur cells/acanthocytes/G1 cells)
A
  1. Hypertonic urine = Crenate/Shrink
  2. Hypotonic urine = Swell/Hemolyze (Ghost cell/shadow cell)
  3. Glomerular membrane damage
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26
Q

SEDIMENT CONSTITUENTS

-Sources of error of RBC?

-Remedy?

A

“MAOY”

  1. Yeasts
  2. Oil droplets
  3. Air bubbles
  4. Monohydrate calcium oxalate crystals
  • Remedy = Add 2% acetic acid. It will lyse the RBCs but not the others
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27
Q

SEDIMENT CONSTITUENTS

  1. term used refer to increased WBCs in urine
  2. increased WBCs indicates?
  3. In hypotonic urine, they ____, and granules undergo _______, producing a sparkling appearance called ______
A
  1. pyuria / leukocyturia
  2. infection/inflammation
  3. swell ; Brownian movement ; (Glitter cells)
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28
Q

SEDIMENT CONSTITUENTS

  1. When these cells are dying, it forms blebs & finger-like projections (myelin forms)
  2. color of Glitter cells?
  3. color of WBC?
A
  1. neutrophils
  2. pale blue
  3. pale pink
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29
Q

SEDIMENT CONSTITUENTS

-nonpathological
-used as point of reference
-Largest cell w/ abundant, irregular cytoplasm & prominent nucleus
-The nucleus is about the size of an RBC

A

Squamous epithelial cell (S.E.C.)

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30
Q

SEDIMENT CONSTITUENTS

-variation of SEC
- PATHOLOGIC
- S.E.C. covered with Gardnerella vaginalis
- Associated with BACTERIAL VAGINOSIS

A

CLUE CELL / SHAGGY CELL

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31
Q

SEDIMENT CONSTITUENTS

  • nonpathological
  • Spherical, polyhedral or caudate with centrally located nucleus
  • Derived from the renal pelvis, calyces, ureter, urinary bladder & upper male urethra
A

Transitional epithelial cell (Urothelial/Bladder cell)

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32
Q

SEDIMENT CONSTITUENTS

-Most clinically significant epithelial cell
- Origin: Nephron
-Rectangular, polyhedral, cuboidal (if from CD) or columnar
- ECCENTRIC NUCLEUS

A

Renal tubular epithelial (R.T.E.) cell

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33
Q

SEDIMENT CONSTITUENTS

> 2 RTE/hpf indicates what?

A

tubular injury

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34
Q

SEDIMENT CONSTITUENTS

  • Lipid containing RTE cell (may also be a
    monocyte/macrophage)
  • highly refractile RTE cell
  • Seen in lipiduria (Ex. NEPHROTIC SYNDROME)
A

Oval Fat Body (Renal tubular fat bodies)

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35
Q

SEDIMENT CONSTITUENTS

Oval Fat Body (Renal tubular fat bodies) are ID by?

A
  • Lipid stains (TAG and neutral fats)
  • Sudan III (Oil Red O)
  • Polarizing microscope (Cholesterol - “MALTESE CROSS” formation)
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36
Q

SEDIMENT CONSTITUENTS

  • RTE cell with non-lipid vacuoles
  • Injured cells in which the endoplasmic reticulum has dilated prior to cell death
    -Seen in acute tubular necrosis
A

Bubble cell

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37
Q

SEDIMENT CONSTITUENTS

  • pathologic
    1. TRUE UTI?
    2. most common cause of UTI
    3. cause of UTI if sexually
A
  1. TRUE UTI = Bacteria + WBCs
  2. Enterobacteriaceae
  3. Staphylococci , Enterococci
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38
Q

SEDIMENT CONSTITUENTS

  • Small, refractile oval structure that may or may not bud
  • Branched, mycelial forms are seen in severe infections
  • not dissolved in 2% acetic acid & not stain in eosin
A

yeast

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39
Q

SEDIMENT CONSTITUENTS

– yeast seen in DM and vaginal moniliasis
– true yeast infection IF?

A

-Candida albicans
- yeast + WBC

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40
Q

SEDIMENT CONSTITUENTS

-Most frequently encountered parasite in urine
 Pear-shaped flagellate with jerky motility
 Agent of Ping-Pong disease
 Reported as rare, few, moderate, or many per HPF
 When not moving, may resemble WBC, T.E.C. or R.T.E. cell

A

Trichomonas vaginalis

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41
Q

SEDIMENT CONSTITUENTS

parasite that is Most common fecal contaminant

A

Enterobius vermicularis egg

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42
Q

SEDIMENT CONSTITUENTS

-Blood fluke with terminal spine
 Causes hematuria
 Associated with bladder cancer

A

Schistosoma haematobium egg

*Other parasites include:
Trichuris
Strongyloides
Giardia, various amoebae

Various insects or “bugs” (lice, fleas, bedbugs, mites, and ticks)

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43
Q

SEDIMENT CONSTITUENTS

Urinary Bladder Cancer Markers (Specific)?

A
  • NMP = Nuclear Matrix Protein
  • BTA = Bladder Tumor Antigen
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44
Q

SEDIMENT CONSTITUENTS

-Oval, slightly tapered head
o Long, flagella-like tail
o After sexual intercourse

A

Spermatozoa

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45
Q

SEDIMENT CONSTITUENTS

-Has low refractive index
-Major constituent: Tamm-Horsfall protein (Uromodulin)

A

Mucus Threads

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46
Q

SEDIMENT CONSTITUENTS

Tamm-Horsfall protein AKA?

A

Uromodulin

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47
Q

MICROSCOPIC QUANTITATIONS

what are those na NO NEED TO QUANTITATE but just note the presence of it?

A

“TYSM” thank you so much

Trichomonas
Yeast
Sperm
Mycelia elements

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48
Q

MICROSCOPIC QUANTITATIONS

in AVERAGE #per LPF?

A

“MEC”

-Mucus threads
-E.C
-Casts/Crystals (ABNORMAL)

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49
Q

MICROSCOPIC QUANTITATIONS

in AVERAGE # per HPF?

A

“RWBRC”

RBC
WBC
Bacteria
RTE cells
Crystals (NORMAL)

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50
Q

MICROSCOPIC QUANTITATIONS

report as RARE, FEW, MODERATE ,MANY ?

A

HPF
- TEC
- Crystals

LPF
-SEC

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51
Q

Casts AKA?

A

molds

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52
Q

-Excretion is termed CYLINDRURIA bc it follows the shape of tubules
-The most difficult & the most important urinary sediment constituent
- Primarily formed in the = DCT and collecting duct

A

CASTS / MOLDS

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53
Q

Major constituent of casts/ molds?

A

Uromodulin/THP (produced by RTE cells)

*Cylindroids have the same significance as Casts (a cast with a tail)

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54
Q

ORDER OF FORMATION OF CASTS

A

“HCCFW”

Hyaline
Cellular
Coarsely Granular
Finely Granular
Waxy (ESRD)

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55
Q

CASTS

  • Prototype cast (beginning of all types of cast)
  • Most frequently encountered & the most
    difficult cast to discover
  • Colorless and translucent
  • Physiologic = Stress, strenuous exercise
  • Pathologic =
    Glomerulonephritis
    Pyelonephritis
    CHF
    CKD
A

HYALINE CAST

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56
Q

CASTS

o Most fragile cast
o Indicates bleeding within the nephron
o Easily identified by its orange-red color
o Significance = Glomerulonephritis, strenuous exercise

A

RBC CAST

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57
Q

CASTS

o Contains hemoglobin from lysed RBCs
 Homogeneous appearance with orange-red color
 Same significance as RBC cast

A

Blood Cast / Hemoglobin / Muddy Brown Cast

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58
Q

CASTS

o Indicates inflammation or infection within the nephron
o Resembles RTE cast. To distinguish, use phase microscopy and supravital
stain.
o Significance = Pyelonephritis, acute interstitial nephritis

A

WBC/LEUKOCYTE/PUS CAST

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59
Q

CASTS

  • Not a true cast (DO NOT report as cast!)
     Clump of leukocytes
     Seen in lower UTI
A

Pseudoleukocyte Cast - naka circle lang ang position

– TRUE WBC CAST, nakahiga ang matrix

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60
Q

CASTS

o Cells visible on the cast matrix are smaller, round and oval cells
o Significance = Advanced tubular destruction, tubular damage

A

EPITHELIAL (RTE) CAST

61
Q

CASTS

o Identified by performing Gram stain
o Significance = Pyelonephritis

A

BACTERIAL CAST

62
Q

CASTS

o Finely granular cast has a sandpaper appearance
o Significance = Glomerulonephritis, pyelonephritis, stress, strenuous exercise

A

GRANULAR CAST (COARSE AND FINE)

63
Q

CASTS

o Fat globules not stained by Sternheimer-Malbin stain (only the cast matrix is
stained)
o Identification:
 TAG & neutral fats = Lipid stains
 Cholesterol = Polarizing microscope (“Maltese cross”)
o Significance = Nephrotic syndrome, Toxic tubular necrosis, Diabetes mellitus,
crush injuries

A

FATTY CAST

64
Q

CASTS

o Final degenerative form of all types of casts
o Brittle, highly refractile, with jagged ends
o Ground glass appearance
o Significance = Stasis of urine flow, chronic renal failure

65
Q

CASTS

o Often referred to as renal failure cast (Strasinger)
o Indicates destruction (widening) of the tubular walls
o Any type of cast can be broad (most common are granular & waxy)
o 2-6x wider than ordinary cast
o Significance = Extreme urine stasis, renal failure

A

BROAD CAST

66
Q

CASTS

NV of Hyaline Cast?

A

Normal value = 0-2/LPF

67
Q

Excretion of Crystals is termed?

A

crystalluria

68
Q

The most recognized but the most INsignificant part of urine sediment

69
Q

Factors that contribute to crystal formation:

A

“PSoT”

pH
Solute concentration
Temp

70
Q

Normal ACID Crystals?

A

“Acid C-CHUA”

Calcium Oxalate
Calcium Sulfate
Hippuric Acid
Uric acid
Amorphous Urates

71
Q

NORMAL ACID Crystals

-The most frequently observed urinary crystal
-↑ Foods rich in oxalic acid (tomato, asparagus) , ascorbic acid and carbonate drinks

72
Q

NORMAL ACID Crystals

a type of Ca Ox ; more common; envelope, bipyramidal, octahedron

A

Dihydrate (Weddellite) - mura ENVELOPE or square na may cross inside

73
Q

NORMAL ACID Crystals

-a type of Ca Ox ; oval/dumbbell
-↑ in Ethylene glycol (anti-freeze agent) or methoxyflurane poisoning (MH

A

Monohydrate (Whewellite) – mura dumbell

74
Q

NORMAL ACID Crystals

  • pink sediment (brick dust) due to uroerythrin
  • Yellow brown granules (microscopic
  • Clumps resemble “pseudocasts”
  • Turns into uric acid after adding acetic acid
  • Turns into ammonium biurate after adding ammonium hydroxide
  • ↑ in Gout, Chemotherapy
  • Soluble in heat and alkali
A

Amorphous Urates — pink na balas

– Amorphous means NO SHAPE

75
Q

NORMAL ACID Crystals

  • Most pleomorphic: Rhombic (diamond), 4-sided flat plate (whetstone), lemon-shaped
  • Product of purine metabolism
  • Hexagonal forms mistaken as cystine crystals
    -↑ in Lesch-Nyhan syndrome, Chemotherapy, Gout
  • Soluble in alkali
A

Uric Acid - mura lemon, diamond, square

76
Q

NORMAL ACID Crystals

“Cigarette-butt” appearance
- Soluble in acetic acid

A

Calcium Sulfate — “mura Sigarilyo”

77
Q

NORMAL ACID Crystals

  • Yellow-brown/colorless elongated prism
  • Soluble in water and ether
A

Hippuric Acid – mura pahaba nga prism

78
Q

NORMAL ACID Crystals

rare forms of Uric Acid Crystals?

A
  • Acid Urates
  • Monosodium / Sodium Urates
79
Q

Normal ALKALINE Crystals?

A

“ATACCM”

~Amorphous Phosphate
~Triple Phosphate (Magnesium Ammonium Phosphate/Struvite)
~Ammonium biurate
~Calcium Phosphate (Apatite)
~Calcium Carbonate
~Magnesium phosphate

80
Q

NORMAL ALKALINE Crystals

  • Most common cause of turbidity in alkaline urine – if stored in ref
  • Fine, or ‘lacy’ white precipitate or beige (macroscopic)
  • Granular in appearance (microscopic)
  • Soluble in dilute acetic acid
A

Amorphous phosphates - white nga BALAS

81
Q

NORMAL ALKALINE Crystals

Yellow-brown thorny apples
- Seen in old specimens

A

Ammonium biurate - mura RAMBUTAN kay daghan thorns

82
Q

NORMAL ALKALINE Crystals

  • Colorless, prism-shaped or coffin-lid; fern-leaf (Harr)
  • Feathery appearance when they disintegrate
A

Triple Phosphate (Magnesium Ammonium Phosphate, Struvite)

– murag KABAONG

83
Q

NORMAL ALKALINE Crystals

  • Colorless, elongated rectangular or rhomboid plates
  • End or corner may be notched
A

Magnesium Phosphate — mura nagamit na mga elongated KAHOY

84
Q

NORMAL ALKALINE Crystals

  • most cons. of renal calculi
    o Colorless, flat plates thin prisms in rosette form
    o Rosettes may resemble sulfonamide crystals
A

Calcium Phosphate (Apatite) – thin prisms naka rosette

85
Q

NORMAL ALKALINE Crystals

-Small, colorless, dumbbell/monohydrate, tetrads or spherical-shaped
- Forms gas (effervescence) after adding acetic acid
- Misidentified as bacteria

A

Calcium Carbonate — small dumbbell

86
Q

ABNORMAL ACID Crystals?

A

“C-CRABS-LT-HAI”

Cystine
Cholesterol
Radiographic dye
Ampicillin
Bilirubin
Sulfonamide
Leucine
Tyrosine

Hemosiderin
Acyclovir
Indinavir Sulfate

87
Q

ABNORMAL ACID Crystals

  • refractile hexagonal plates,
  • Mistaken as hexagonal uric acid crystals
  • ↑ in Cystinuria and Cystinosis
A

Cystine – mura PIATTOS

88
Q

ABNORMAL ACID Crystals

-Rectangular plate with notch in one or more corners (staircase pattern)
- Increased in Nephrotic syndrome (lipiduria)
- Soluble in chloroform

A

Cholesterol – mura dulaan LEGO

89
Q

ABNORMAL ACID Crystals

-Flat, four-sided plates often with a notched corner
-Resembles cholesterol crystals.
- Soluble in 10% NaOH

A

Radiographic dye (Meglumine diatrizoate, Renografin, Hypaque)

– mura dulaan LEGO

90
Q

ABNORMAL ACID Crystals

  • Fine colorless to yellow needles in clumps or rosettes
  • ↑ in Liver disease (more commonly found than leucine)
  • Soluble in alkali or heat
A

Tyrosine — mura SWAKI

91
Q

ABNORMAL ACID Crystals

  • spheres w/concentric circles & radial striations
  • Precipitated with tyrosine after adding alcohol
  • May resemble fat globules
  • ↑ in Liver disease
A

Leucine – mura SOFA-PILLOW

92
Q

ABNORMAL ACID Crystals

-Clumped granules or needles with bright yellow color
-↑ in Liver disease

A

Bilirubin — mura TUYOM

93
Q

ABNORMAL ACID Crystals

  • Fan-shaped needles, sheaves of wheat. rosettes, arrowheads, petals, round-shaped, whetstones
    -resemble calcium phosphate BUT in rosette form
  • seen in massive antibiotics
A

Sulfonamide – mura WALIS TAMBO or Cal Phos in rosette

94
Q

ABNORMAL ACID Crystals

Colorless needles that tend to form bundles following refrigeration
- ↑ in massive doses of penicillin

A

Ampicillin – mura WALIS TINGTING

95
Q

ABNORMAL Crystals

  • Coarse, yellow-brown granules
  • Resembles amorphous urates
  • (+) Rous test (Prussian blue stain)
A

Hemosiderin

96
Q

ABNORMAL Crystals

-May be seen in alkaline urine
- Colorless slender needles
- Strongly birefringent with polarized light

A

Acyclovir (tx for chickenpox)– mura nagkumpol nga DAGOM

97
Q

ABNORMAL Crystals

  • Slender colorless needles or slender rectangular plates
  • Feather-like crystals that aggregate into wing-like bundles
  • Arranged in fan-shaped or starburst forms, bundles, or sheaves
  • Associated with renal blockage & stone formation in HIV-positive individuals
A

Indinavir Sulfate

98
Q

URINARY SEDIMENT ARTIFACTS

o Spheres with dimpled center
o “Maltese cross” formation on polarizing microscope

A

Starch granules

99
Q

URINARY SEDIMENT ARTIFACTS

“Maltese cross” formation on polarizing microscope?

A

“OFFS”
 Oval fat bodies – very BIG circle
 Fatty casts
 Fat droplets — mura bubbles
 Starch granules – spheres with dimples center

100
Q

URINARY SEDIMENT ARTIFACTS

mistaken for RBCs?

A

Oil droplets – mura bubbles
Air bubbles – naay black outer sa circle

101
Q

URINARY SEDIMENT ARTIFACTS

spheres with cell wall & concentric circles

A

Pollen grains

102
Q

URINARY SEDIMENT ARTIFACTS

mistaken for casts

A

Hair and fibers

other: fecal contam

103
Q

CATEGORIES OF AMINOACIDURIA

↑ Amino acid in blood
↑ Amino acid in urine

A

OVERFLOW TYPE

104
Q

CATEGORIES OF AMINOACIDURIA

Normal Amino acid in blood
↑ Amino acid in urine

A

RENAL TYPE

105
Q

CATEGORIES OF AMINOACIDURIA

example of OVER FLOW TYPE?

A

PKU
MSUD
cystinosis

106
Q

CATEGORIES OF AMINOACIDURIA

example of RENAL TYPE?

A

Cystinuria
Fanconi’s syndrome

107
Q

URINE SCREENING FOR METABOLIC DISORDERS

  • Failure to inherit a gene that codes for a particular enzyme.
  • No gene = No enzyme
A

Inborn Error of Metabolism (EM)

108
Q

PHENYLALANINE -TYROSINE DISORDERS?

A

“PTAM”

PKU
TYROSYLURIA/TYROSINEMIA
ALKAPTONURIA
MELANURIA

109
Q

PHENYLALANINE -TYROSINE DISORDERS

  • The most well-known of the aminoacidurias
  • (-) gene that codes for phenylalanine hydroxylase
  • “Mousy” odor of urine, sweat and breath odor (due to phenylacetic acid)
  • May lead to severe mental retardation
A

PHENYLKETONURIA

110
Q

PHENYLALANINE -TYROSINE DISORDERS

PKU
-Screening tests:
-Confirmatory test:

A

-Screening tests: Guthrie bacterial inhibition test “uses B.subtilis”

-Confirmatory test: Ion exchange HPLC

111
Q

PHENYLALANINE -TYROSINE DISORDERS

  • (-) gene that codes for:
    o Type 1: Fumarylacetoacetate hydrolase (FAH)
    o Type 2: Tyrosine aminotransferase
    o Type 3: p-hydroxyphenylpyruvic acid dioxygenase
  • May also be seen in severe liver disease
  • “Rancid butter” urine odor
A

TYROSYLURIA/TYROSINEMIA

112
Q

PHENYLALANINE -TYROSINE DISORDERS

TYROSYLURIA/TYROSINEMIA
- Screening Tests
- Confirmatory Tests

A
  • Screening Tests
    o FeCl3 tube test = (+) transient green
    o Nitroso-naphthol = (+) orange-red
  • Confirmatory Tests
    o Chromatography
    o Quantitative serum assay of tyrosine
113
Q

PHENYLALANINE -TYROSINE DISORDERS

-(-) gene that codes for Homogentisic acid oxidase
-Urine darkens after becoming alkaline from standing at room temperature
-Brown - or black-stained cloth diapers
-Tx: Vit C

A

ALKAPTONURIA

114
Q

PHENYLALANINE -TYROSINE DISORDERS

ALKAPTONURIA - accumulation of Homogentisic acid oxidase in connective tissue – ears, eyes..

A

OCHRONOSIS

115
Q

PHENYLALANINE -TYROSINE DISORDERS

ALKAPTONURIA

-Screening Tests
-Confirmatory Tests

A
  • Screening Tests
    o FeCl3 tube test = (+) transient blue
    o Clinitest = (+) yellow precipitate
    o Alkalinization of fresh urine
  • Confirmatory Tests
    o Paper/thin-layer chromatography
    o Capillary electrophoresis
116
Q

PHENYLALANINE -TYROSINE DISORDERS

-Caused by melanoma (tumor involving melanocytes)
- 5,6-dihydroxyindole
- Urine darkens upon air exposure
- Deficient production of melanin results in albinism

117
Q

PHENYLALANINE -TYROSINE DISORDERS

MELANURIA

Screening Tests?

A

o FeCl3 tube test = (+) Gray/black ppt
o Sodium nitroprusside test = (+) Red
o Ehrlich test = (+) Red

118
Q

BRANCHED-CHAIN AMINO ACID DISORDERS?

A

MAPLE SYRUP URINE DISEASE (MSUD)
ORGANIC ACIDEMIAS

119
Q

BRANCHED-CHAIN AMINO ACID DISORDERS

  • Most common IEM in the Philippines
    -(-) Gene that codes for the enzyme complex known as branched-chain α-keto acid
    dehydrogenase (BCKD)
    -↑ Ketoacids of Leucine, Isoleucine and Valine
    -Caramelized sugar/Maple syrup/Curry” urine odor
A

MAPLE SYRUP URINE DISEASE (MSUD)

120
Q

BRANCHED-CHAIN AMINO ACID DISORDERS

MAPLE SYRUP URINE DISEASE (MSUD)

-Screening Test
-Confirmatory Test

A

Screening Test:
o 2,4-dinitrophenylhydrazine (DNPH) = (+) Yellow turbidity/precipitate

Confirmatory Test
o Gas or thin-layer chromatography
o Nuclear magnetic resonance spectro (NMRS)

121
Q

BRANCHED-CHAIN AMINO ACID DISORDERS

-Isovaleric acidemia , Glutaric acidemia = “sweaty feet” urine odor due to isovalerylglycine

  • Methylmalonic acidemia = detected using p-nitroaniline test = (+) Emerald green
    colo
A

ORGANIC ACIDEMIAS

122
Q

TRYPTOPHAN DISORDER?

A

INDICANURIA
ARGENTAFFINOMA

123
Q

TRYPTOPHAN DISORDER

  • Indigo blue urine color (upon air exposure)
  • Seen in:
    o Hartnup disease (“Blue diaper syndrome”)
    o Intestinal disorders
A

INDICANURIA

124
Q

TRYPTOPHAN DISORDER

screening test for INDICANURIA

A

Obermayer’s test

o FeCl3 + Urine + Chloroform = (+) Violet color

125
Q

TRYPTOPHAN DISORDER

  • Tumor of argentaffin or enterochromaffin cells produce serotonin (carried by platelets) → metabolized into 5-HIAA
  • Patient must not eat bananas, pineapples, tomatoes, avocados, chocolates,
    walnuts, & plums (they ↑ serotonin)
A

ARGENTAFFINOMA

126
Q

TRYPTOPHAN DISORDER

screening test for ARGENTAFFINOMA

A

Screening tests
o FeCl3 tube test = (+) Blue-green
o Nitrosonaphthol with nitrous acid = (+) Violet

126
Q

CYSTINE DISORDERS?

A

CYSTINURIA
CYSTINOSIS
HOMOCYSTINURIA

127
Q

CYSTINE DISORDERS

  • Renal type of aminoaciduria
  • Defective tubular reabsorption of:
    o Cystine (the only one which crystallizes; least soluble)
    o Ornithine
    o Lysine
    o Arginine
A

CYSTINURIA

128
Q

Tests for Cystinuria and Cystinosis?

A

o Brand’s modification of Legal’s nitroprusside
 Reagent = Cyanide nitroprusside
 (+) Red-purple color

o Thin layer or ion-exchange chromatography
o High-voltage electrophoresis

129
Q

CYSTINE DISORDERS

  • Inborn error of metabolism → Overflow type
  • (-) gene that codes for an enzyme responsible for cystine metabolism
  • Types = Nephropathic cystinosis, intermediate cystinosis, and ocular cystinosis
  • Cystine deposits in many areas of the body (BM, cornea, lymph nodes & internal
    organs)
A

CYSTINOSIS

130
Q

CYSTINE DISORDERS

  • Defects in the metabolism of methionine (leads to ↑ homocystine)
  • (-) gene that codes for the enzyme cystathione β-synthase
  • Detected by the Silver-nitroprusside test = (+) Red-purple color
A

HOMOCYSTINURIA

130
Q

Urine color
o red, purple, burgundy-red, purplish red, “portwine”
o Colorless in = lead poisoning

A

PORPHYRIN DISORDERS (PORPHYRIAS)

131
Q

PORPHYRIN DISORDERS (PORPHYRIAS)

Screening test/CDC-recommended test for lead poisoning?

A

Free erythrocyte CDCrecommended test for
lead protoporphyrin
(FEP)

131
Q

PORPHYRIN DISORDERS (PORPHYRIAS)

a disorder in which enzyme: Uroporphyrinogen
cosynthase is deficient ?

-a vampire disease, red/portwine

A

Congenital erythropoietic porphyria

132
Q

MUCOPOLYSACCHARIDE [MPS] DISORDERS
(MUCOPOLYSACCHARIDOSIS)?

A

HURLER SYNDROME
HUNTER SYNDROME
SANFILIPPO SYNDROME

133
Q

GROUP OF DISORDERS that frequently found in urine are dermatan sulfate, keratan sulfate and heparan
sulfate

-Tx: BM transplant, gene replacement therapy

A

MUCOPOLYSACCHARIDE [MPS] DISORDERS
(MUCOPOLYSACCHARIDOSIS)

134
Q

MUCOPOLYSACCHARIDE [MPS] DISORDERS
(MUCOPOLYSACCHARIDOSIS)

o Nasal bridge / no nose bridge
o A.k.a. Gargoylism or MPS Type I
o MPS accumulate in the cornea of the eye
o (+) Skeletal abnormalities & mental retardation

A

HURLER SYNDROME

135
Q

MUCOPOLYSACCHARIDE [MPS] DISORDERS
(MUCOPOLYSACCHARIDOSIS)

o Cheek bone
o AKA MPS Type II
o Sex-linked recessive, rarely seen in females
o (+) Skeletal abnormalities & mental retardation

A

HUNTER SYNDROME

136
Q

MUCOPOLYSACCHARIDE [MPS] DISORDERS
(MUCOPOLYSACCHARIDOSIS)

o AKA MPS Type III
o Mental retardation is the only abnormality

A

SANFILIPPO SYNDROME

137
Q
  • SCREENING TESTS for MUCOPOLYSACCHARIDE [MPS] DISORDERS (MUCOPOLYSACCHARIDOSIS)?
  • CONFIRMATORY?
A

SCREENING TESTS
- Acid albumin test = (+) White turbidity

  • 5% Cetyltrimethylammoniumbromide (CTAB) Test = (+) White turbidity
  • Mucopolysaccharide (MPS) Paper Test = (+) Blue color

CONFIRMATORY TEST: Molecular analysis

137
Q

PURINE DISORDER?

A

LESCH-NYHAN DISEASE

138
Q

PURINE DISORDER

  • (-) gene that codes for the enzyme hypoxanthine guanine phosphoribosyltransferase
  • ↑ Uric acid in the blood and urine
  • “Orange sand” in diapers
A

LESCH-NYHAN DISEASE

139
Q

what disorder is these na:
- neg Glucose strip and (+) Copper reduction test/Clinitest/Benedicts test?

A

CARBOHYDRATE DISORDERS

139
Q

CARBOHYDRATE DISORDERS

o Inability to metabolize galactose to glucose
o Enzymes absent:
 Galactose-1-phosphate uridyl transferase (GALT)
 Galactokinase
 UDP-galactose-4-epimerase
o ↑ Galactitol, galactonate and galactose-1-phosphate
o Associated with infant failure to thrive, liver disorders, CATARACTS and
severe mental retardation

A

Galactosemia/Galactosuria

140
Q

CARBOHYDRATE DISORDERS

Diabetes Mellitus

A

Glucosuria

141
Q

CARBOHYDRATE DISORDERS

seen during pregnancy and lactation

A

Lactosuria

141
Q

CARBOHYDRATE DISORDERS

associated with parenteral feeding

A

Fructosuria

142
Q

CARBOHYDRATE DISORDERS

associated with ingestion of large amounts of fruits

A

Pentosuria

DL-CM (6 decks)

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