Gaucher Disease



Gaucher Disease


Grace E. Kim, MD









H&E slide shows clusters of enlarged Kupffer cells image with uniquely striated cytoplasm in the lobule.






PAS-D positive aggregates of Kupffer cells with faintly fibrillary cytoplasm image fill the sinusoids.



TERMINOLOGY


Synonyms



  • Glucocerebrosidase deficiency



ETIOLOGY/PATHOGENESIS


Inborn Error of Metabolism



  • Most common lysosomal glycolipid storage disorder



    • Enzyme deficiency



      • Acid β-glucosidase (glucocerebrosidase)


    • Accumulation of glucocerebroside (also called glucosylceramide) in phagocytic cells


Autosomal Recessive Disorder



  • Mutation in GBA, encoding acid β-glucosidase, on 1q21



    • c.1226A>G (N370S allele) is the most common mutant allele

Jul 8, 2016 | Posted by in PATHOLOGY & LABORATORY MEDICINE | Comments Off on Gaucher Disease
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