MICROSCOPIC, MET. DISORDERS Flashcards by Patricia Baltazar

Q

URINE SEDIMENT PREPARATION

Transfer _____ of urine in a test tube (recommended volume = _____)
Centrifuge tube at _____RCG _____mins.
Decant urine (______ urine remains in the tube)
Transfer _____ sediment to glass slide with 22 x 22 mm coverslip
Examined under ____ HPF & ____ LPF using light microscope

A

10-15 mL ; 12 mL
400 RCF for 5 minutes
0.5 or 1.0 mL
20 uL (0.02 ml)
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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Q

used to clean opticaL surfaces?

A

Lens paper

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Q

used to clean Contaminated lens?

A

Commercial lens paper

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Q

used remove OIL on lens?

A

DRY lens paper

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Q

BASIC COMPONENTS OF THE STANDARD LIGHT MICROSCOPE

it performs initial focusing (for LPO & SO)

A

coarse adjustment knob

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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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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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Q

BASIC COMPONENTS OF THE STANDARD LIGHT MICROSCOPE

Sharpens image (for HPO & OIO)

A

Fine adjustment knob

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Q

BASIC COMPONENTS OF THE STANDARD LIGHT MICROSCOPE

Lenses which form primary magnification (initial
image of specimen)

A

objectives

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Q

BASIC COMPONENTS OF THE STANDARD LIGHT MICROSCOPE

use to rotate objectives

A

revolving nosepiece

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Q

BASIC COMPONENTS OF THE STANDARD LIGHT MICROSCOPE

regulate the intensity of light

A

rheostat

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Q

SEDIMENT STAINS

most commonly used supravital stain

A

Sternheimer - Malbin (SM)

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Q

SEDIMENT STAINS

composition of Sternheimer - Malbin (SM)

A

(Crystal violet + Safranin O)

Available as KOVA & Sedi stain

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Q

SEDIMENT STAINS

(Supravital stain)
Differentiates WBCs from RTE cells

A

Toluidine blue

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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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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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Q

SEDIMENT STAINS

Identifies urinary eosinophils ; Trichinella spiralis (nematode)

A

Hansel stain

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Q

SEDIMENT STAINS

composition of Hansel stain?

A

Hansel stain
(Eosin Y + Methylene blue)

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Q

SEDIMENT STAINS

Identifies hemosiderin/iron

A

Prussian blue (Rous test)

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Q

SEDIMENT STAINS

Identifies Ferrous (Fe2+)

A

Perl’s Prussian blue

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Q

SEDIMENT STAINS

Identifies Ferric iron (Fe3+)

A

Turnbull’s blue

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Q

SEDIMENT STAINS

stains DNA

A

Phenathridine (orange)

dine—dna

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Q

SEDIMENT STAINS

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

A

Carbocyanine (green)

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Q

SEDIMENT CONSTITUENTS

NV of RBCs
NV of WBCs
NV of Eosinphil

A

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

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SEDIMENT CONSTITUENTS 1. Hypertonic urine, RBC will? 2. Hypotonic urine, RBC will? 3. Dysmorphic, with projections, fragmented RBC (spur cells/acanthocytes/G1 cells)

1. Hypertonic urine = Crenate/Shrink 2. Hypotonic urine = Swell/Hemolyze (Ghost cell/shadow cell) 3. Glomerular membrane damage

SEDIMENT CONSTITUENTS -Sources of error of RBC? -Remedy?

"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

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 ______

1. pyuria / leukocyturia 2. infection/inflammation 3. swell ; Brownian movement ; (Glitter cells)

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?

1. neutrophils 2. pale blue 3. pale pink

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

Squamous epithelial cell (S.E.C.)

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

CLUE CELL / SHAGGY CELL

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

Transitional epithelial cell (Urothelial/Bladder cell)

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

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

SEDIMENT CONSTITUENTS >2 RTE/hpf indicates what?

tubular injury

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

Oval Fat Body (Renal tubular fat bodies)

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

- Lipid stains (TAG and neutral fats) - Sudan III (Oil Red O) - Polarizing microscope (Cholesterol - "MALTESE CROSS" formation)

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

Bubble cell

SEDIMENT CONSTITUENTS - pathologic 1. TRUE UTI? 2. most common cause of UTI 3. cause of UTI if sexually

1. TRUE UTI = Bacteria + WBCs 2. Enterobacteriaceae 3. Staphylococci , Enterococci

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

yeast

SEDIMENT CONSTITUENTS -- yeast seen in DM and vaginal moniliasis -- true yeast infection IF?

-Candida albicans - yeast + WBC

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

Trichomonas vaginalis

SEDIMENT CONSTITUENTS parasite that is Most common fecal contaminant

Enterobius vermicularis egg

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

Schistosoma haematobium egg *Other parasites include: Trichuris Strongyloides Giardia, various amoebae Various insects or “bugs" (lice, fleas, bedbugs, mites, and ticks)

SEDIMENT CONSTITUENTS Urinary Bladder Cancer Markers (Specific)?

- NMP = Nuclear Matrix Protein - BTA = Bladder Tumor Antigen

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

Spermatozoa

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

Mucus Threads

SEDIMENT CONSTITUENTS Tamm-Horsfall protein AKA?

Uromodulin

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

"TYSM" thank you so much Trichomonas Yeast Sperm Mycelia elements

MICROSCOPIC QUANTITATIONS in AVERAGE #per LPF?

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

MICROSCOPIC QUANTITATIONS in AVERAGE # per HPF?

"RWBRC" RBC WBC Bacteria RTE cells Crystals (NORMAL)

MICROSCOPIC QUANTITATIONS report as RARE, FEW, MODERATE ,MANY ?

HPF - TEC - Crystals LPF -SEC

Casts AKA?

molds

-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

CASTS / MOLDS

Major constituent of casts/ molds?

Uromodulin/THP (produced by RTE cells) *Cylindroids have the same significance as Casts (a cast with a tail)

ORDER OF FORMATION OF CASTS

"HCCFW" Hyaline Cellular Coarsely Granular Finely Granular Waxy (ESRD)

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

HYALINE CAST

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

RBC CAST

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

Blood Cast / Hemoglobin / Muddy Brown Cast

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

WBC/LEUKOCYTE/PUS CAST

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

Pseudoleukocyte Cast - naka circle lang ang position -- TRUE WBC CAST, nakahiga ang matrix

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

EPITHELIAL (RTE) CAST

CASTS o Identified by performing Gram stain o Significance = Pyelonephritis

BACTERIAL CAST

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

GRANULAR CAST (COARSE AND FINE)

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

FATTY CAST

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

WAXY CAST

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

BROAD CAST

CASTS NV of Hyaline Cast?

Normal value = 0-2/LPF

Excretion of Crystals is termed?

crystalluria

The most recognized but the most INsignificant part of urine sediment

crystals

Factors that contribute to crystal formation:

"PSoT" pH Solute concentration Temp

Normal ACID Crystals?

"Acid C-CHUA" Calcium Oxalate Calcium Sulfate Hippuric Acid Uric acid Amorphous Urates

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

Ca Ox

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

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

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

Monohydrate (Whewellite) -- mura dumbell

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

Amorphous Urates --- pink na balas -- Amorphous means NO SHAPE

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

Uric Acid - mura lemon, diamond, square

NORMAL ACID Crystals “Cigarette-butt” appearance - Soluble in acetic acid

Calcium Sulfate --- "mura Sigarilyo"

NORMAL ACID Crystals - Yellow-brown/colorless elongated prism - Soluble in water and ether

Hippuric Acid -- mura pahaba nga prism

NORMAL ACID Crystals rare forms of Uric Acid Crystals?

- Acid Urates - Monosodium / Sodium Urates

Normal ALKALINE Crystals?

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

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

Amorphous phosphates - white nga BALAS

NORMAL ALKALINE Crystals Yellow-brown thorny apples - Seen in old specimens

Ammonium biurate - mura RAMBUTAN kay daghan thorns

NORMAL ALKALINE Crystals - Colorless, prism-shaped or coffin-lid; fern-leaf (Harr) - Feathery appearance when they disintegrate

Triple Phosphate (Magnesium Ammonium Phosphate, Struvite) -- murag KABAONG

NORMAL ALKALINE Crystals - Colorless, elongated rectangular or rhomboid plates - End or corner may be notched

Magnesium Phosphate --- mura nagamit na mga elongated KAHOY

NORMAL ALKALINE Crystals - most cons. of renal calculi o Colorless, flat plates thin prisms in rosette form o Rosettes may resemble sulfonamide crystals

Calcium Phosphate (Apatite) -- thin prisms naka rosette

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

Calcium Carbonate --- small dumbbell

ABNORMAL ACID Crystals?

"C-CRABS-LT-HAI" Cystine Cholesterol Radiographic dye Ampicillin Bilirubin Sulfonamide Leucine Tyrosine Hemosiderin Acyclovir Indinavir Sulfate

ABNORMAL ACID Crystals - refractile hexagonal plates, - Mistaken as hexagonal uric acid crystals - ↑ in Cystinuria and Cystinosis

Cystine -- mura PIATTOS

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

Cholesterol -- mura dulaan LEGO

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

Radiographic dye (Meglumine diatrizoate, Renografin, Hypaque) -- mura dulaan LEGO

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

Tyrosine --- mura SWAKI

ABNORMAL ACID Crystals - spheres w/concentric circles & radial striations - Precipitated with tyrosine after adding alcohol - May resemble fat globules - ↑ in Liver disease

Leucine -- mura SOFA-PILLOW

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

Bilirubin --- mura TUYOM

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

Sulfonamide -- mura WALIS TAMBO or Cal Phos in rosette

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

Ampicillin -- mura WALIS TINGTING

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

Hemosiderin

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

Acyclovir (tx for chickenpox)-- mura nagkumpol nga DAGOM

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

Indinavir Sulfate

URINARY SEDIMENT ARTIFACTS o Spheres with dimpled center o "Maltese cross" formation on polarizing microscope

Starch granules

URINARY SEDIMENT ARTIFACTS "Maltese cross" formation on polarizing microscope?

"OFFS"  Oval fat bodies -- very BIG circle  Fatty casts  Fat droplets --- mura bubbles  Starch granules -- spheres with dimples center

URINARY SEDIMENT ARTIFACTS mistaken for RBCs?

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

URINARY SEDIMENT ARTIFACTS spheres with cell wall & concentric circles

Pollen grains

URINARY SEDIMENT ARTIFACTS mistaken for casts

Hair and fibers other: fecal contam

CATEGORIES OF AMINOACIDURIA ↑ Amino acid in blood ↑ Amino acid in urine

OVERFLOW TYPE

CATEGORIES OF AMINOACIDURIA Normal Amino acid in blood ↑ Amino acid in urine

RENAL TYPE

CATEGORIES OF AMINOACIDURIA example of OVER FLOW TYPE?

PKU MSUD cystinosis

CATEGORIES OF AMINOACIDURIA example of RENAL TYPE?

Cystinuria Fanconi's syndrome

URINE SCREENING FOR METABOLIC DISORDERS - Failure to inherit a gene that codes for a particular enzyme. - No gene = No enzyme

Inborn Error of Metabolism (EM)

PHENYLALANINE -TYROSINE DISORDERS?

"PTAM" PKU TYROSYLURIA/TYROSINEMIA ALKAPTONURIA MELANURIA

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

PHENYLKETONURIA

PHENYLALANINE -TYROSINE DISORDERS PKU -Screening tests: -Confirmatory test:

-Screening tests: Guthrie bacterial inhibition test "uses B.subtilis" -Confirmatory test: Ion exchange HPLC

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

TYROSYLURIA/TYROSINEMIA

PHENYLALANINE -TYROSINE DISORDERS TYROSYLURIA/TYROSINEMIA - Screening Tests - Confirmatory Tests

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

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

ALKAPTONURIA

PHENYLALANINE -TYROSINE DISORDERS ALKAPTONURIA - accumulation of Homogentisic acid oxidase in connective tissue -- ears, eyes..

OCHRONOSIS

PHENYLALANINE -TYROSINE DISORDERS ALKAPTONURIA -Screening Tests -Confirmatory Tests

- 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

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

MELANURIA

PHENYLALANINE -TYROSINE DISORDERS MELANURIA Screening Tests?

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

BRANCHED-CHAIN AMINO ACID DISORDERS?

MAPLE SYRUP URINE DISEASE (MSUD) ORGANIC ACIDEMIAS

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

MAPLE SYRUP URINE DISEASE (MSUD)

BRANCHED-CHAIN AMINO ACID DISORDERS MAPLE SYRUP URINE DISEASE (MSUD) -Screening Test -Confirmatory Test

Screening Test: o 2,4-dinitrophenylhydrazine (DNPH) = (+) Yellow turbidity/precipitate Confirmatory Test o Gas or thin-layer chromatography o Nuclear magnetic resonance spectro (NMRS)

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

ORGANIC ACIDEMIAS

TRYPTOPHAN DISORDER?

INDICANURIA ARGENTAFFINOMA

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

INDICANURIA

TRYPTOPHAN DISORDER screening test for INDICANURIA

Obermayer's test o FeCl3 + Urine + Chloroform = (+) Violet color

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)

ARGENTAFFINOMA

TRYPTOPHAN DISORDER screening test for ARGENTAFFINOMA

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

CYSTINE DISORDERS?

CYSTINURIA CYSTINOSIS HOMOCYSTINURIA

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

CYSTINURIA

Tests for Cystinuria and Cystinosis?

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

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)

CYSTINOSIS

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

HOMOCYSTINURIA

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

PORPHYRIN DISORDERS (PORPHYRIAS)

PORPHYRIN DISORDERS (PORPHYRIAS) Screening test/CDC-recommended test for lead poisoning?

Free erythrocyte CDCrecommended test for lead protoporphyrin (FEP)

PORPHYRIN DISORDERS (PORPHYRIAS) a disorder in which enzyme: Uroporphyrinogen cosynthase is deficient ? -a vampire disease, red/portwine

Congenital erythropoietic porphyria

MUCOPOLYSACCHARIDE [MPS] DISORDERS (MUCOPOLYSACCHARIDOSIS)?

HURLER SYNDROME HUNTER SYNDROME SANFILIPPO SYNDROME

GROUP OF DISORDERS that frequently found in urine are dermatan sulfate, keratan sulfate and heparan sulfate -Tx: BM transplant, gene replacement therapy

MUCOPOLYSACCHARIDE [MPS] DISORDERS (MUCOPOLYSACCHARIDOSIS)

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

HURLER SYNDROME

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

HUNTER SYNDROME

MUCOPOLYSACCHARIDE [MPS] DISORDERS (MUCOPOLYSACCHARIDOSIS) o AKA MPS Type III o Mental retardation is the only abnormality

SANFILIPPO SYNDROME

- SCREENING TESTS for MUCOPOLYSACCHARIDE [MPS] DISORDERS (MUCOPOLYSACCHARIDOSIS)? - CONFIRMATORY?

SCREENING TESTS - Acid albumin test = (+) White turbidity - 5% Cetyltrimethylammoniumbromide (CTAB) Test = (+) White turbidity - Mucopolysaccharide (MPS) Paper Test = (+) Blue color CONFIRMATORY TEST: Molecular analysis

PURINE DISORDER?

LESCH-NYHAN DISEASE

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

LESCH-NYHAN DISEASE

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

CARBOHYDRATE DISORDERS

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

Galactosemia/Galactosuria

CARBOHYDRATE DISORDERS Diabetes Mellitus

Glucosuria

CARBOHYDRATE DISORDERS seen during pregnancy and lactation

Lactosuria

CARBOHYDRATE DISORDERS associated with parenteral feeding

Fructosuria

CARBOHYDRATE DISORDERS associated with ingestion of large amounts of fruits

Pentosuria