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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