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Fetal Gaucher disease
Disease definition
Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD; see this term).
ORPHA:85212
Classification level: Subtype of disorderSummary
Epidemiology
It is very rare with an incidence of less than 5% of GD cases.
Clinical description
This form is particularly severe. The disease manifests in the fetus with a decrease or absence of fetal movements, fetal and placental anasarca, hepatosplenomegaly, ichthyosis, arthrogryposis, facial dysmorphism and fetal thrombocytopenia. Death usually occurs in utero or shortly after birth (<3 months).
Etiology
Fetal Gaucher disease is a lysosomal storage disease caused by a mutation in the GBA gene (1q21) that encodes for the lysosomal enzyme, glucocerebrosidase. The enzyme deficiency resulting from the mutation leads to accumulation of glucosylceramide (or beta-glucocerebrosidase) deposits in the cells of the reticuloendothelial system of the liver, spleen and bone marrow (Gaucher cells).
Diagnostic methods
Diagnosis is made by demonstrating a deficiency in the enzymatic activity of glucocerebrosidase.
Antenatal diagnosis
Biochemical prenatal diagnosis is recommended for couples who have already had a child diagnosed with Fetal Gaucher disease or GD type 2. It can be carried out by measuring the enzyme activity in chorionic villus samples at 10-12 weeks of pregnancy or in amniocytes in culture towards 16 weeks of pregnancy.
Genetic counseling
The transmission is autosomal recessive.
Management and treatment
There is no treatment for this severe form of the disease.
Detailed information
Article for general public
Professionals
- Clinical practice guidelines
- Français (2022)
- Practical genetics
- English (2013, pdf)
- Clinical genetics review
- English (2018)
Additional information