Biochemical markers for diagnosis of diseases and follow up Dr. Rana Hasanato Associate professor...
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![Page 1: Biochemical markers for diagnosis of diseases and follow up Dr. Rana Hasanato Associate professor and consultant Head of clinical chemistry department.](https://reader035.fdocuments.net/reader035/viewer/2022062519/5697bfd41a28abf838cac83b/html5/thumbnails/1.jpg)
Biochemical markers for diagnosis of diseases
and follow up
Dr. Rana HasanatoAssociate professor and consultant
Head of clinical chemistry department
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Lecture objectives:Upon completion of this lecture, the students should be able to:•Define biomarkers and its criteria•Recognize different types of biochemical markers •Demonstrate the clinical applications of biomarkers in diagnosis of various diseases
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What is a biomarker?
•A biological molecule found in blood, other body fluids, or tissues that indicates a normal or abnormal process such as a disease or a condition
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Most common body fluids for the measurement of biomarkers are:
•Blood•Urine•Biomarkers are either:
•Plasma-specific•Tissue-specific
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Plasma-specific biomarkers:
•Normally present in plasma•Perform their functions in blood•High level of activity in plasma than in tissue cells
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Tissue-specific biomarkers:
•Present inside the cell•A low concentration can be detected in plasma due to cellular turnover
•If higher concentration is detected in plasma, it indicates cell damage.
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•Cell damage can be due to:1- Tissue inflammation, example:
-ALT* in liver disease (e.g. acute hepatitis)-Amylase in acute pancreatitis
2- Ischemia hypoxia infarction ↑ plasma [Troponin] in myocardial infarction
ALT*: alanine aminotransferase
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diagnosis and prognosis:Diagnosis: Identification of a disease from its signs and symptoms
Prognosis: The future outcome of a disease
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Criteria of a good biomarker assay:
A good biomarker assay should be:• Sensitive: Sensitivity is the Ability of an assay
to detect small quantities of a marker
• Specific: Specificity is the ability of an assay to detect only the marker of interest
• Robust to produce fast results
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Examples of biomarkers:
EnzymesHormonesProteins
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Enzymes as biomarkers:
Examples include:
•Amylase, Lipase•Alanine aminotransferase (ALT)•Aspartate aminotransferase (AST)
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Amylase:
• Elevated serum amylase level is a diagnostic indicator of acute pancreatitis
• Amylase level greater than 10 times the upper limit indicates acute pancreatitis
• The test has low specificity because elevated amylase level is also present in other diseases
• Amylase appears in the serum within 2-12 hours after abdominal pain, and returns to normal in 2-3 days
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Lipase:
•Serum lipase has higher specificity than serum amylase (elevated only in acute pancreatitis)
•It appears in plasma within 4-8 hours and remains for 8-14 days
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Case: A GP was called to see a 21-year-old female student who had been complaining a flu-like illness for two days, with symptoms of fever, vomiting and abdominal tenderness in the right upper quadrant. On examination she was jaundiced, moreover; the liver was enlarged and tender. A blood was taken for liver function tests which showed elevated ALT (alanine aminotransferase) and AST (aspartate aminotransferase) What is the most likely diagnosis?
Acute Hepatitis
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Aspartate aminotransferase (AST) Alanine aminotransferase (ALT):
AST ALT
Produced by: heart, liver, skeletal muscle, kidney, erythrocytes
liver
Elevated in:Liver disease, heart disease,
skeletal muscle disease, hemolysis
Liver disease
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Proteins as biomarkers:•-Fetoprotein
•Prostate Specific Antigen (PSA)
•Cystatin C
•B-type Natriuretic Peptide (BNP)
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a-Fetoprotein:• It is produced by the fetal liver, and falls until term in newborn babies -fetoprotein levels are very low
• It remains low under normal conditions.
• High conc. are observed in:hepatocellular carcinomas (hepatoma)testicular carcinomasGI tract carcinomas
• It is a non specific marker
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Prostate Specific Antigen (PSA):• Produced by prostate gland
• PSA level is used as a tumor marker to aid diagnosis and for monitoring in patients with prostatic cancer.
• High serum levels are also observed in:Benign prostatic hyperplasia (BPH)Prostatic inflammation/infection
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Cystatin C:• A cysteine protease inhibitor mainly produced by all
nucleated cells of the body
• Useful biomarker for measuring glomerular filtration rate (GFR) in assessing kidney function
• Unlike creatinine, its serum conc. is independent of gender, age or muscle mass
• High levels of serum cystatin C indicates early renal disease
• Clinically used as a marker for:detecting early kidney diseasemonitoring kidney transplantation
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B-type natriuretic peptide (BNP)
• A peptide secreted mainly in the cardiac ventricles in response to cardiac expansion and pressure overload
• High serum levels are observed in congestive heart failure
• It can be used to differentiate patients whose symptoms are due to heart failure from those whose symptoms are due to other causes such as pulmonary disease.
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Hormones as biomarkers:
Anti-Mullerian hormone (AMH):
•In females it is produced by ovaries
•Appears to be a best marker for estimating egg cell reserve in the ovaries(ovarian reserve testing)
•only growing follicles produce AMH
•Plasma AMH levels strongly correlate with number of growing follicles•g with infertility
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Anti-Mullerian hormone (AMH)
High levels in women with Polycystic
ovarian syndrome (PCOS)
Low levels in women with ovarian dysfunction
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Take home message:
• Biochemical markers are essential accurate and non-invasive laboratory tools offering the treating physicians fast means for better management.
• They could be proteins, enzymes, or hormones.
• Recent development in medicine provides new biomarkers