8. Lysosomal diseases (tesaurismoses) Flashcards by Shalini Selva

What are Storage Diseases?

Diseases DUE to Hereditary Factors

CONNECTED with Metabolism Disturbance

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What are the Causes of All Storage Diseases?

Autosomal Recessive

Sex (-X-) Linked Recessive Genetic Transmission

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What are MOST Storage Diseases known as?

LYSOSOMAL Storage Diseases

ARISING from Glycogen Storage Diseases

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

a. Proteinoses
b. Lipidoses
c. Glucogenoses

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What are the MOST Frequent Lipidoses?

Gaucher’s Disease

2. Niemann-Pick’s Disease

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1| What is Gaucher’s Disease?

Autosomal Recessive Disorder

DUE to DEFICIENCY of Lysosomal Enzyme = GLUCOCEREBROSIDASE

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1| What does Gaucher’s Disease Lead to?

Lysosomal Accumulation of Glucocerebroside

IN Phagocytes + Neurons

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

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

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

Adult Form

The Storage of Glucocerebrosides IN Phagocytes

Involving Spleen / Liver / BM / Lymph Nodes

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

Where there’s Progressive Involvement of CNS

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

Features BOTH Type I + Type II

Systemic Involvement (Type I)

Progressive Involvement of CNS (Type II)

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

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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2| What is Niemann-Pick’s Disease?

Autosomal Recessive Disorder

DUE to DEFIENCY of SPINGOMYELINASE + Activator Protein

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

Accumulation of Sphingomyelin + Cholesterol

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

In Infancy

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

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

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

SMALLER < than Gaucher Cells

Cytoplasm = Foamy + Vacuolated

Stained (+ve) by FAT STAINS

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

What is the MOST COMMON Disease Among GANGLUISIDOSES?

Tay-Sack’s Disease

What is Tay-Sack’s Disease?

Autosomal Recessive DEFECT

LEADS to Hexosaminidase A DEFICIENCY

What does Tay-Sack’s Disease Lead to?

EXCESSIVE Accumulation of Gangliosides

IN CNS + PNS

LEADS to Progressive Dementia / Hypotonia / Blindness

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

ENLARGED Ganglion Cells

Nuclei PUSHED to Periphery of Cells

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

Brain Atrophy

Hydrocephaly

Hepatosplenomegaly

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

Chronic Disseminated Histioicycosis X

What is Hand-Schuller Christian’s Disease?

Proliferation of Langerhans Cells

FORMING Granulomas

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

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

Diabetes Insipidus Deafness Hepatosplenomegaly Xanthelasmas on Eyelids

What is Glycogenoses?

Glycogen Storage Disease

What are the 3 Glycogenoses Diseases?

1. Pompe's Disease 2. McArdle's Disease 3. Von Gierke's Disease

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

Pompe's Disease

1| What is Pompe's Disease?

Autosomal Recessive Disorder DUE to Lysosomal Enzyme DEFICIENCY = ACID MALTASE RESULTING in Glycogen Accumulation in Heart + Skeletal Muscle

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

Cardiomegaly Hypotonia

2| What is McArdle's Disease?

DEFICIENCY of MUSCLE PHOSPHORLYASE RESULTING in Glycogen Accumulation in Muscle COMMON in 2nd - 4th Decade in Life

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

Painful Muscle Cramps AFTER Exercise

3| What is Von Gierke's Disease?

Autosomal Recessive Disorder DUE to GLUCOSE-6-PHOSPHATE DEFICIENCY RESULTING in Glycogen Accumulation in Liver / Hypoglycaemia

3| How does VG's Disease Cause Hypoglyaemia?

REDUCED Formation of Free Glucose FROM Glycogen

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

Hyperlipoproteinemia Ketosis DUE to Fat Metabolism FOR Energy!

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

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

What is Mucopolysacchridoses?

Disturbance of Glycosaminoglycans DUE to Hereditary Factors / Storage Disease DEFICIENCY of SPECIFIC Lysosomal Enzyme {FOR Muco-PS Degradation}

What does Mucopolysacchridoses Lead to?

Mucopolysaccharide Accumulation IN - Mononuclear Phagocytic Cells - Endothelial Cells - SM Cells - Fibroblasts

Where does Mucopolysacchridoses Manifest in?

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

What is the MICROSCOPIC Observation for Mucopolysacchridoses ?

Finely Granular LIGHT Microscopy = PAS (+ve ELECTRON Microscopy = Swollen Lysosomes

What Disease is Associated with Mucopolysacchridoses ?

Pfaundler-Hurler Disease Gargoilism - CONGENITAL DEFECT of Enzyme Determining GAG Metabolism

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

Irregular Skeleton Growth MASSIVE Skull Heart Defects Inguinal + Umbilical Hernias Hepato - + Splenomegaly Keratoleukoma = Retina Opacity