Gaucher's Disease: Etiology, Types, Clinical Features, Pathogenesis, Diagnosis, and Treatment

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Gaucher's Disease: Etiology, Types, Clinical Features, Pathogenesis, Diagnosis, and Treatment

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Gaucher's Disease: Etiology, Types, Clinical Features, Pathogenesis, Diagnosis, and Treatment
An autosomal recessive disease caused by a deficiency in β-glucocerebrosidase that leads to intracellular accumulation of glucocerebroside in the brain, liver, spleen, and bone marrow. Causes hepatosplenomegaly, neurodegeneration, osteoporosis, and aseptic necrosis of the femur. The most common lysosomal lipid storage disease.
Etiology: An autosomal recessive inherited disease
Epidemiology
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Most common lysosomal lipid storage disease
Type I is the most common form (associated with a normal lifespan)
Pathophysiology: deficiency of β-glucocerebrosidase → accumulation of glucocerebroside in the brain, liver, spleen, bone marrow.
Clinical features
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Vary according to the exact subtype of Gaucher disease
Type I: non-neuronopathic Gaucher disease
Type II: acute neuronopathic Gaucher disease
Type III: chronic neuronopathic Gaucher disease
All types
Hepatosplenomegaly
Bone: bone crises, osteoporosis, avascular necrosis of the femur
Blood abnormalities: anemia, thrombocytopenia
Pulmonary manifestations
Growth delays
Type II
Congenital ichthyosis (collodion baby), acute neurodegeneration
Death before 2 years of age
Type III: has a gradual onset of symptoms, including neurodegeneration
Diagnosis:
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Reduced glucocerebrosidase activity in leukocytes or fibroblasts
Accumulation of glucocerebroside in leukocytes or fibroblasts
Gaucher cell: Lipid-rich macrophages with an enlarged cytoplasm with inclusions that resemble crumpled tissue paper on microscopy.
Treatment: recombinant glucocerebrosidase
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Пікірлер: 20

@dishagarg6229 Жыл бұрын

Very nice vedio, I totally recommend it as it explains gauchers in a brief and effective way

@doctorbhanuprakash Жыл бұрын

Thanks for sharing

@KellyChidinma 2 жыл бұрын

Your video is really informative and easy to follow.Thank you

@doctorbhanuprakash 2 жыл бұрын

Ur most welcome

@ramalingamkc2153 3 жыл бұрын

thanks sir very useful

@doctorbhanuprakash 3 жыл бұрын

Most welcome

@satyammishra8637 3 жыл бұрын

Sir please take some more clinical cases for neet pg.

@doctorbhanuprakash 3 жыл бұрын

Suree

@will-bi4pj 3 жыл бұрын

Remarkable discussion

@doctorbhanuprakash 3 жыл бұрын

Thank you

@yiimingkai-8795 3 жыл бұрын

thank you so much, thus is superb

@doctorbhanuprakash 3 жыл бұрын

Thank u

@medicalbiochemistry_ 3 жыл бұрын

Well explained

@doctorbhanuprakash 3 жыл бұрын

tysm

@user-qd3qw1eu4j 3 жыл бұрын

Have a question from your introduction of glucocerebrosidase/ glucocerebroside/glucosylceramide. are these three components the same?

@Shawn-go5bb Жыл бұрын

glucocerebrosidase is the enzyme that breaks down the fatty chemical called glococerebroside . glucosylceramide is another name for glucocerebroside.

@khastiz8207 3 жыл бұрын

Just saw these vedios on utube they really are informative and gives you what you are looking for in a short time , way better than studying a dry book , thanks for sharing 💚💚💚💚💚💚💚💚💚💚💚💚💚💚

@doctorbhanuprakash 3 жыл бұрын

Glad you like them!