immunoglobinopathies

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Presentation transcript:

immunoglobinopathies Dr Sara Amjad immunoglobinopathies

Clinical significance of albumin Prevention from crossing BBB Hypoalbuminemia Malnutrition Nephrotic syndrome Cirrhosis of liver

Colloid osmotic pressure Low albumin, causing edema.

Albuminuria Microalbuminuria Therapeutical use of albumin

Clinical significance of α antitrypsin α antitrypsin deficiency has been implicated in two diseases Emphysema α1 AT deficiency liver disease

Emphysema Abnormal distension of lungs by air 5 percent of emphysema cases are due to deficiency of α1 AT Associated with lung infections Increase in activity of macrophages to release elastase

α1 AT deficiency liver disease Accumulation of a mutant α1 AT which aggregates to form polymers Polymer cause liver damage Accumulation of collagen resulting in fibrosis

α1 Fetoglobulin Presence of α1 Fetoglobulin is usually diagnostically in determining presence of hepatocelluar carcinoma

Clinical significance of Haptoglobin Anemia is associated with decrease plasma concentration of haptoglobin

Transferrin Deficiency PCM Cirrhosis of liver

Clinical significance of Ceruloplasmin: Wilson,s disease Failure to synthesize ceruloplasmin or an impairment in the binding capacity of copper Copper is free in the plasma which easily enters tissue

Manifestations Copper deposition in abnormal amounts in liver and brain Low level of ceruloplasmin in plasma with increase excretion Copper deposition in kidney causes renal damage Intestinal absorption of copper is very high

Multiple myeloma Plasma cell cancer Abnormal Ig production malignancy of a single cone of plasma cell Over production of abnormal immunoglobulin's Decreased immunity Recurrent infections

Electrophoretic pattern of multiple myeloma Sharp distant band M band between beta and gamma globulin Diminished synthesis of gamma globulin

Bence Jones proteins Light chain of immunoglobulin are in excess Renal tubes damage Amyloidosis Deposition of light chains in tissues

Genetic deficiency of plasma proteins Analbuminaemia Complete absence Defect in synthesis Bruton,s agammaglobulinaemia Inherited, X linked Differentiation of beta lymphocytes to plasma cells is defective

Afibrinogenaemia Inherited disorder Defect in fibrinogen formation Uncontrollable hemorrhages

Plasma Proteins