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Summary
GAUCHER DISEASE TYPE I
230800
OMIM = Online Medalian Inheritance of Men
77259
1q22
  • enzyme replacement therapy
  • splenectomy
  • substrate reduction therapy (SRT)
1:600 (>350 patients)
autosomal recessive
type I is mainly found in Ashkenazic Jews
3 types:
- chronic/adult (I) MIM 230800
- acute/infantile(II) MIM 230900
- juvenile (III) MIM 231000
- cardiovascular (IIIC) MIM 231005
symptoms
anemia
arthritis
bleeding tendencies, hemorrhages
bone fractures
cirrhosis or fibrosis of liver
growth retardation
heart involvement
hepatomegaly (large liver)
hyperpigmentation
neurological deterioration
neutropenia (decreased neutrophils)
onset, adulthood
onset, childhood
pain, bones or joints
pigmentation, skin and sclera
pulmonary hypertension
respiratory insufficiency
skeletal changes
splenomegaly (large spleen)
thrombopenia, thrombocytopenia
laboratory finding
Glucocerebrosidase 100.00decreased activityfibroblasts
Glucocerebrosidase 100.00decreased activityleucocytes
Gaucher cells, bone marrow, spleen bone marrow
bleeding time 3.005.00prolongedblood
DNA
Glucosylceramidase (beta-Glucosidase) decreased activityleucocytes
Literature
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