Catalog

Cytoplasmic vacuolation consistent with Fabry disease

No MMS code

Link to WHO Definition

Cytoplasmic vacuolation consistent with Fabry disease – http://id.who.int/icd/entity/1425331405

Characteristic birefringent glycosphingolipid deposits are seen in the cytoplasm of endothelial and epithelial cells due to genetically based deficiency of the enzyme alpha-galactosidase A. Similar deposits are also seen elsewhere in the kidney.