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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[@KellyChidinma]

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

[@doctorbhanuprakash]

Ur most welcome

[@khastiz8207]

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]

Glad you like them!

[@satyammishra8637]

Sir please take some more clinical cases for neet pg.

[@doctorbhanuprakash]

Suree

[@nsas955]

There is no hepatomegaly in Gaucher disease as I remember . Am I right?

[@rashkaibrahim2809]

there is because it affect both the liver and spleen enlarging them

[@dishagarg6229]

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

[@doctorbhanuprakash]

Thanks for sharing

[@ramalingamkc2153]

thanks sir
very useful

[@doctorbhanuprakash]

Most welcome

[@西西的东东]

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

[@Shawn-go5bb]

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

[@medicalbiochemistry_]

Well explained

[@doctorbhanuprakash]

tysm

[@will-bi4pj]

Remarkable discussion

[@doctorbhanuprakash]

Thank you

[@yiimingkai-8795]

thank you so much, thus is superb

[@doctorbhanuprakash]

Thank u