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ATTEMPT AT ENZYME REPLACEMENT IN GAUCHER DISEASE BY RENAL TRANSPLANTATION
Author(s) -
GROTH C. G.,
COLLSTE H.,
DREBORG S.,
HÅKANSSON G.,
LUNDGREN G.,
SVENNERHOLM L.
Publication year - 1979
Publication title -
acta paediatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1979.tb05043.x
Subject(s) - glucocerebroside , medicine , enzyme replacement therapy , transplantation , cerebroside , gaucher's disease , splenectomy , disease , glucocerebrosidase , juvenile , surgery , spleen , biochemistry , biology , genetics
. In Gaucher disease there is a deficiency of the lysosomal enzyme, cerebroside‐β‐glucosidase, as a result of which cerebroside (glucosylceramide) accumulates in various organs. In northern Sweden 22 patients with a juvenile form of this disease have been identified. In one such patient, a girl of 10 years, we have attempted enzyme replacement by renal transplantation. After this operation the hepatic glucocerebroside content fell significantly. In another child afflicted with Gaucher disease in whom splenectomy was performed for severe splenomegaly and hypersplenism there was a progressive increase in the level of this lipid. These findings suggest that enzyme replacement was achieved by transplantation of a normal organ.