Open AccessMorbus gaucher: A report of two cases
Author(s) -
Milomir Djokic
Publication year - 2006
Publication title -
vojnosanitetski pregled
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.123
H-Index - 19
eISSN - 2406-0720
pISSN - 0042-8450
DOI - 10.2298/vsp0612039d
Subject(s) - hepatosplenomegaly , glucocerebroside , glucocerebrosidase , medicine , enzyme replacement therapy , gaucher's disease , disease , bone marrow , histiocyte , pathology , immunology
[corrected] Clinical features of inherited glucocerebrosidase deficiency were first described by Phillippe Charles Ernest Gaucher, French physician (1854-1918). Deficiency of glucocerebrosidase leads to the accumulation of the lipid glucocerebroside within the lysosomes of the monocyte macrophage system. Lipid-laden cells, known as Gaucher cells, lead to hepatosplenomegaly, multiorgan dysfunction and sceletal deterioration.