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General Pathology > 8. Lysosomal diseases (tesaurismoses) > Flashcards

8. Lysosomal diseases (tesaurismoses) Flashcards

1
Q

What are Storage Diseases?

A

Diseases DUE to Hereditary Factors

CONNECTED with Metabolism Disturbance

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2
Q

What are the Causes of All Storage Diseases?

A

Autosomal Recessive

Sex (-X-) Linked Recessive Genetic Transmission

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3
Q

What are MOST Storage Diseases known as?

A

LYSOSOMAL Storage Diseases

ARISING from Glycogen Storage Diseases

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4
Q

What are Storage Diseases Classified into, According to Type of Metabolism Disturbance?

A

a. Proteinoses
b. Lipidoses
c. Glucogenoses

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5
Q

What are the MOST Frequent Lipidoses?

A
  1. Gaucher’s Disease

2. Niemann-Pick’s Disease

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6
Q

1| What is Gaucher’s Disease?

A

Autosomal Recessive Disorder

DUE to DEFICIENCY of Lysosomal Enzyme = GLUCOCEREBROSIDASE

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7
Q

1| What does Gaucher’s Disease Lead to?

A

Lysosomal Accumulation of Glucocerebroside

IN Phagocytes + Neurons

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8
Q

1| What are the 3 Types of Gaucher’s Disease?

A

a. Type 1 = Classic
b. Type 2 = Infantile
c. Type 3 = Juvenile

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9
Q

1a| What is Type I (Classic) Gaucher’s Disease?

A

Adult Form

The Storage of Glucocerebrosides IN Phagocytes

Involving Spleen / Liver / BM / Lymph Nodes

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10
Q

1b| What is Type II (Infantile) Gaucher’s Disease?

A

Where there’s Progressive Involvement of CNS

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11
Q

1c| What is Type III (Juvenile) Gaucher’s Disease?

A

Features BOTH Type I + Type II

Systemic Involvement (Type I)

Progressive Involvement of CNS (Type II)

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12
Q

1| What are the MICROSOPIC Observations of Gaucher’s Disease?

A

LARGE N.O of Distended + Enlarged MFs = Gaucher Cells

Single Nucleus / Sometimes 2/3

Cells RICH in Phosphatase

Found in Spleen / Liver / BM / Lymph Nodes / Virchow-Robin Space

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13
Q

2| What is Niemann-Pick’s Disease?

A

Autosomal Recessive Disorder

DUE to DEFIENCY of SPINGOMYELINASE + Activator Protein

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14
Q

2| What does Niemann-Pick’s Disease Lead to?

A

Accumulation of Sphingomyelin + Cholesterol

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15
Q

2| When Does Niemann-Pick’s Disease Manifest?

A

In Infancy

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16
Q

2| What are the 3 Clinical Symptoms of Niemann-Pick’s Disease?

A

(i) Hepatosplenomegaly
(ii) Lymphadenopathy
(iii) Mental + Physical Retardation

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17
Q

2| What are the MICROSOPIC Observations of Niemann-Pick’s Disease?

A

SMALLER < than Gaucher Cells

Cytoplasm = Foamy + Vacuolated

Stained (+ve) by FAT STAINS

Located in Spleen / Liver / Lymph Nodes / BM / Lungs / Intestine / Brain

18
Q

What is the MOST COMMON Disease Among GANGLUISIDOSES?

A

Tay-Sack’s Disease

19
Q

What is Tay-Sack’s Disease?

A

Autosomal Recessive DEFECT

LEADS to Hexosaminidase A DEFICIENCY

20
Q

What does Tay-Sack’s Disease Lead to?

A

EXCESSIVE Accumulation of Gangliosides

IN CNS + PNS

LEADS to Progressive Dementia / Hypotonia / Blindness

21
Q

What are the MICROSOPIC Observations of Tay-Sack’s Disease?

A

ENLARGED Ganglion Cells

Nuclei PUSHED to Periphery of Cells

22
Q

What are the MACROSCOPIC Observations of Tay-Sack’s Disease?

A

Brain Atrophy

Hydrocephaly

Hepatosplenomegaly

23
Q

What is Hand-Schuller Christian’s Disease, also known as ?

A

Chronic Disseminated Histioicycosis X

24
Q

What is Hand-Schuller Christian’s Disease?

A

Proliferation of Langerhans Cells

FORMING Granulomas

Affecting Sphenoidal Bone (NEXT to Cella Turcica) / Liver / Lymph Nodes

25
Q

What does Hand-Schuller Christian’s Disease, Lead to?

A

Diabetes Insipidus

Deafness

Hepatosplenomegaly

Xanthelasmas on Eyelids

26
Q

What is Glycogenoses?

A

Glycogen Storage Disease

27
Q

What are the 3 Glycogenoses Diseases?

A
  1. Pompe’s Disease
  2. McArdle’s Disease
  3. Von Gierke’s Disease
28
Q

1| Which is the ONLY Glycogen Storage Disease DUE to Lysosomal Enzyme DEFICIENCY?

A

Pompe’s Disease

29
Q

1| What is Pompe’s Disease?

A

Autosomal Recessive Disorder

DUE to Lysosomal Enzyme DEFICIENCY = ACID MALTASE

RESULTING in Glycogen Accumulation in Heart + Skeletal Muscle

30
Q

1| What are the Clinical Symptoms of Pompe’s Disease?

A

Cardiomegaly

Hypotonia

31
Q

2| What is McArdle’s Disease?

A

DEFICIENCY of MUSCLE PHOSPHORLYASE

RESULTING in Glycogen Accumulation in Muscle

COMMON in 2nd - 4th Decade in Life

32
Q

2| What are the Clinical Symptoms of McArdle’s Disease?

A

Painful Muscle Cramps

AFTER Exercise

33
Q

3| What is Von Gierke’s Disease?

A

Autosomal Recessive Disorder

DUE to GLUCOSE-6-PHOSPHATE DEFICIENCY

RESULTING in Glycogen Accumulation in Liver / Hypoglycaemia

34
Q

3| How does VG’s Disease Cause Hypoglyaemia?

A

REDUCED Formation of Free Glucose

FROM Glycogen

35
Q

3| What are the Clinical Symptoms for VG’s Disease?

A

Hyperlipoproteinemia

Ketosis

DUE to Fat Metabolism FOR Energy!

36
Q

3| What are the Clinical Symptoms of VG’s Disease in Infancy?

A

Stunted Growth

ENORMOUS Hepatomegaly w/ Intracytoplasmic + Intranuclear Glycogen

Enlarged Kidneys w/ Intracytoplasmic Glycogen in Tubular Epithelial Cells

Gout

Skin Xanthomas

Haemorrhagic Diathesis DUE to Platelet Dysfunction

37
Q

What is Mucopolysacchridoses?

A

Disturbance of Glycosaminoglycans

DUE to Hereditary Factors / Storage Disease

DEFICIENCY of SPECIFIC Lysosomal Enzyme

{FOR Muco-PS Degradation}

38
Q

What does Mucopolysacchridoses Lead to?

A

Mucopolysaccharide Accumulation IN

  • Mononuclear Phagocytic Cells
  • Endothelial Cells
  • SM Cells
  • Fibroblasts
39
Q

Where does Mucopolysacchridoses Manifest in?

A

Infancy

Early Childhood

Affecting = CT / Liver / Spleen / BM / Lymph Nodes / Kidneys / Heart / Brain

40
Q

What is the MICROSCOPIC Observation for Mucopolysacchridoses ?

A

Finely Granular

LIGHT Microscopy = PAS (+ve

ELECTRON Microscopy = Swollen Lysosomes

41
Q

What Disease is Associated with Mucopolysacchridoses ?

A

Pfaundler-Hurler Disease

Gargoilism

  • CONGENITAL DEFECT of Enzyme Determining GAG Metabolism
42
Q

What are the Clinical Symptoms of Pfaundler-Hurler Disease / Gargoilism?

A

Irregular Skeleton Growth

MASSIVE Skull

Heart Defects

Inguinal + Umbilical Hernias

Hepato - + Splenomegaly

Keratoleukoma = Retina Opacity

General Pathology (13 decks)

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