Professional Documents
Culture Documents
Pre-analytical Factors
Analytical Factors
Post-analytical Factors
o Factors are processes that affect the reporting of results and correct interpretation of data.
o Patient misidentification
o Poor handwriting
o Transcription error
o Poor quality of instrument printer
o Failure to send report
o Failure to call critical values
o Inability to identify interfering substances
Renal Disease
Classification of Renal Disease
Tubular Disorders affecting the renal tubules include those in which tubular function is disrupted
as a result of actual damage to the tubules and those in which a metabolic or
hereditary dis- order affects the intricate functions of the tubules.
Hereditary and Metabolic Disorders affecting tubular function may be caused by systemic conditions
Tubular Disorders that affect or override the tubular reabsorptive maximum (Tm) for particular
substances normally reabsorbed by the tubules or by failure to inherit a gene
or genes required for tubular reabsorption.
Interstitial Disorders disorders affecting the interstitium also affect the tubules (tubulointerstitial
disease ) due to close proximity.
Alport Syndrome
Summary of Metabolic and Tubular Disorders
Nephrogenic Low specific gravity ADH testing Inherited defect of Requires supportive
diabetes tubular response to therapy to prevent
Polyuria
insipidus ADH or acquired dehydration
from medications
Overflow disorder
Result from the disruption of a normal metabolic pathway that causes increased plasma
concentrations of the nonmetabolized substances.
Renal Disorder
caused by malfunctions in the tubular reabsorption mechanism
Inborn Error of Metabolism
Disruption of enzyme function failure to inherit the gene to produce a particular enzyme
NOTE:
Mostly encountered metabolites appearance is classified into functional defect
• Lesch-Nyhan disease
Most of these disorders are caused by build up of unmetabolized ingredients of food therefore early detection
of the disorder is important Newborn screening
Blood is collected in infant heel for screening tandem mass spectrophotometry (MS/MS)
• phenylketonuria (PKU)
• tyrosyluria
• alkaptonuria
• melanuria
• maple syrup urine disease
• organic acidemias
• indicanuria
• cystinuria
• cystinosis
NOTE:
• Phenylalanine and tyrosine metabolism
• PKU, Tyrosyluria andAlkaptonuria are the most common disorders in this pathway producing excessive
amounts of melanin
Phenylketonuria (PKU)
Phenylalanine Blood • Increased 2-6 weeks prior to the urinary normal results is lowered
Level excretion of phenylpyruvic acid from 4 mg/dL to 2 mg/dL
• Detected as early as 4 hours after birth
Phenylpyruvic acid • based upon the ferric chloride reaction permanent blue-green
Urine Test performed by tube test. color
Guthrie’s microbial • blood from a heelstick is absorbed into Bacterial growth with
inhibition assay filter paper circles. The blood-impregnated around the paper disks.
disks are placed on culture media with
Bacillus subtilis. If increased
phenylalanine levels are present in the
blood, it will counteracts the action of
beta-2-thienylalanine, an inhibitor of B.
subtilis that is present in the media
• the ferric chloride test is a nonspecific reaction and will react with many other amino acids and
commonly ingested medications
Tyrosyluria/Tyrosinemia
One of the six original inborn errors of metabolism described by Garrod in 1902
Darkened urine after becoming alkaline from standing at room temperature.
occurs from failure to inherit the gene to produce the enzyme homogentisic acid oxidase
brown-stained or black-stained cloth diapers and reddish- stained disposable diapers
NOTE:
enzyme homogentisic acid oxidase. Without this enzyme, the phenylalanine-tyrosine pathway cannot
proceed to completion, and homogentisic acid accumulates in the blood, tissues, and urine.
Test for Alkaptonuria
FeCl3 Test • Screening test for metabolic transient deep blue color in test
disorder tube
urinary homogentisic acid • Screening test observe for darkening of the color
Test
• add alkali to freshly voided (Ascorbic Acid interferes the test)
urine
Interference:
• Large doses of ampicillin
• a positive reagent strip test result for ketones
produce a positive DNPH result
Organic Acidemias
NOTE:
Generalized symptoms of the organic acidemias include early severe illness, often with vomiting
accompanied by metabolic acidosis; hypoglycemia; ketonuria; and increased serum ammonia
TRYTOPHAN DISORDERS
NOTE:
The major concern of the urinalysis laboratory in the metabolism of tryptophan is the increased urinary
excretion of the metabolites indican and 5-hydroxyindoleacetic acid (5-HIAA)
Indicanuria
increased amounts of tryptophan are converted to indole (Hartnup disease)
Excess indole is reabsorbed in the intestine circulated to liver converted to indican excreted in
urine
Colorless when oxidized turns indigo blue
Blue diaper syndrome
FeCl3 Test deep blue/violet color chloroform extraction
NOTE:
Trptophan enter the instestine then converted to indole by intestinal bacteria excreted in the feces
5-Hydroxyindoleacetic Acid
• Requirement:
• 24h sample
• Preservative: HCl or Boric Acid
• Strict diet
• Hold medication (phenothiazines and
acetanilids) for 72h prior to sample
collection
NOTE:
• The test can be performed on a random or first morning specimen; however, false-negative results can
occur based on the specimen concentration and also because 5-HIAA may not be produced at a
constant rate throughout the day.
CYSTINE DISORDERS
Test & Result Cyanide-nitroprusside Test Positive test results (+) cyanide-nitroprusside
(red-purple color) for reducing test plus (+) silver-
substances nitroprusside test
Porphyrin disorder
Characteristic skeletal structure is abnormal and there is severe mental Mental retardation
Abnormality retardation
mucopolysaccharides accumulate
in the cornea of the eye.
Carbohydrate Disorder