Blood, 1948, Vol. 3, No. 11, pp. 1250-1258.
© 1948 American Society of Hematology, Inc.
STUDIES CONCERNING THE PATHOGENESIS OF GAUCHER’S DISEASE
BERTHA OTTENSTEIN Ph.D.1,
GERHARD SCHMIDT M.D.1, and
S. J. THANNHAUSER M.D.1
1 Research Laboratories of the Boston Dispensary and the Joseph H. Pratt Diagnostic Hospital
and the Department of Medicine, Tufts College Medical School, Boston.
1. The serum of normal individuals and of patients with Gaucher’s disease does
not contain cerebrosides in measurable amounts. Cerebrosides in Gaucher’s disease
are increased only in those organs containing abundant numbers of cells characteristic of the disease.
2. Normal red blood cells contain approximately 0.19 per cent cerebrosides. The
cerebroside in red blood cells is a galactosidocerebroside.
3. Red blood cells in Gaucher’s disease do not differ quantitatively and qualitatively in their cerebroside content from the red blood cells of normal individuals.
4. In four different cases of Gaucher’s disease separate determinations of splenic
galactosido- and glucosidocerebrosides were made. The spleen of two adults
showed mainly glucosidocerebrosides and only traces of galactosidocerebrosides,
while the analysis of the spleen of two other adults showed that galactosido- as
well as glucosidocerebrosides may be accumulated simultaneously in Gaucher cells.
These findings are of importance, since it is demonstrated that the deviation of the
cerebroside metabolism in Gaucher cells not only results in the formation of an
abnormal glucosidocerebroside, but also may lead to the increased formation of
the normal galactosidocerebroside, kerasin. It is demonstrated that the relative
proportions of galactosido- and glucosidocerebrosides in Gaucher cells may differ
considerably in individual cases.
5. The organs of infantile siblings with "generalized infantile Gaucher’s" disease were analyzed. The organs of one infant showed mainly galactosidocerebrosides while in the organs of the other sibling both kinds of cerebrosides, glucosido- as well as galactosidocerebrosides, were present.
6. The findings reported in this paper lend support to the theory that Gaucher’s
disease is the result of a deviation of the intracellular metabolism of reticulum cells
and histiocytes. The cerebrosides are not transported by the serum or by the red
blood cells and secondarily deposited in the cells involved, but are formed and
stored in the reticulum cells and histiocytes were they are found.
