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Pathology (Em's Notes) > Lab 1: Intracellular Accumulations > Flashcards

Lab 1: Intracellular Accumulations Flashcards

1
Q

Which is type I GSD?

A

Von Gierke’s

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2
Q

Findings in Von Gierke’s

A 
Severe fasting hypoglycemia
High glycogen in liver 
High blood lactate 
Hepatomegaly 
Hypercholesteremia
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3
Q

Deficient enzyme in Von Gierke’s

A

Glucose-6-Phosphatase

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4
Q

Which is type II GSD?

A

Pompe’s

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5
Q

Findings in Pompe’s

A

Cardiomegaly
Systemic findings
Early Death

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6
Q

Deficient enzyme in Pompe’s

A

Lysosomal-alpha-1,4-glucosidase

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7
Q

Which is type III GSD?

A

Cori’s

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8
Q

Findings in Cori’s

A

Mild

Normal blood lactate

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9
Q

Deficient enzyme in Cori’s

A

Debranching enzyme

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10
Q

Which is type V GSD?

A

McArdle’s

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11
Q

Findings in McArdle’s

A

High glycogen in muscle
Painful muscle cramps
Myoglobinuria w/extreme exercise

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12
Q

Deficient enzyme in McArdle’s

A

Skeletal muscle glycogen phosphorylase

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13
Q

What are the two common mucopolysaccharidoses?

A

Hurler syndrome

Hunter syndrome

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14
Q

What is the deficient enzyme in Hurler Syndrome?

A

alpha-L-iduronidase

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15
Q

What is the deficient enzyme in Hunter syndrome?

A

Iduronate sulfatase

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16
Q

What is the clinical presentation of hurler syndrome?

A

Developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly

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17
Q

What inheritance patterns do Hunter and Hurler syndromes show?

A

Hunter - XR

Hurler - AR

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18
Q

Which is more severe: Hunter or Hurler Syndrome?

A

Hurler

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19
Q

What are the two major categories of lysosomal storage diseases?

A

Sphingolipidoses

Mucopolysaccharidoses

20
Q

Do GSD or MPS have stronger PAS stains?

A

GSD

21
Q

Which of the GSD disorders has hypoglycemia?

A

Von Gierke’s

22
Q

Which will have systemic impact v. localized impact?

A

MPS - multi-systemic

GSD - localized to liver and muscles

23
Q

In alcohol fatty liver disease: macrovesicular steatosis or microvesicular steatosis?

A

macrovesicular steatosis

24
Q

What are the three ways that alcohol can cause steatosis?

A
  1. shunting away from catabolism into lipid biosynthesis through increased NADH:NAD ratio
  2. impairs assembly and secretion of lipoproteins
  3. causes increased peripheral breakdown of fat (lipolysis) –> increased return to liver.
25
Q

What are Mallory-Denk bodies precipitates of?

A

damaged keratin intermediate filaments, found in cytoplasm of hepatocytes in alcoholic liver disease

26
Q

Three characteristics of clinical cirrhosis

A
  1. portal hypertension
  2. decreased detoxification
  3. decreased protein synthesis
27
Q

Elevated liver function enzymes after drug therapy: micro or macro steatosis

A

microsteatosis

28
Q

Two ways to get microvasicular steatosis

A

toxicity (drugs) or immune response (bugs)

29
Q

Why do you get hepatic injury with drugs?

A

liver detoxifies and excretes many chemical drugs. during conjugation, reactive oxygen species may be produced that can injure the hepatocytes.

30
Q

Most liver disease AST and ALT values

A

AST < ALT

31
Q

Alcoholic hepatitis

A

AST > ALT

32
Q

High values in Wilson’s disease

A 
Ammonia
Prothrombin time 
Partial thromboplastin time
Creatinine
Urea
33
Q

What are the clinical manifestations of elevated ammonia?

A

Decreased mental status

asterixis

34
Q

What gene is defective in Wilson’s disease?

A

AR defect in ATP7B - which directs copper to transporter or to bile, deficiency causes back-up

35
Q

Kayser-Fleisher rings are caused by:

A

Wilson’s disease (copper)

36
Q

Which two diseases are Mallory bodies present?

A

Wilson’s and EtOH

37
Q

DDX for Cirrhosis

A

Alcoholic cirrhosis, hemochromatosis, Wilson’s disease, chronic viral hepatitis and non-alcoholic steatohepatitis.

38
Q

What is Budd Chiari-Syndrome

A

Hepatic vein thrombosis

39
Q

What substance is stained by the Prussian blue stain?

A

Iron

40
Q

Hemochromatosis results from:

A

Too much iron in the body

41
Q

Hemochromatosis is a defect in what enzyme:

A

AR defect in HFE gene on chromosome 6

42
Q

What is the best lab test for hemochromatosis?

A

elevated ferritin levels

43
Q

What is the triad of bronze diabetes?

A

Cirrhosis, diabetes mellitus, bronze skin

44
Q

What blocks the transport of Iron?

A

Hepcidin turns off ferroportin (Hemochromatosis, this is defective)

45
Q

Where is Iron absorbed?

A

Duodenum

Pathology (Em's Notes) (10 decks)

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