The hereditary mechanism of Gaucher's disease.

  • J GROEN
  • Published 1948 in Blood

Abstract

By J. GROEN, M.D. T HE NUMBER of cases of Gaucher’s disease that have been described up to the present time is about 2.50, but it is probable that many more cases have been observed. Collier’s case7 was probably the first in which more than one member of the family was found to be affected. After him, Bovaird,4 in i oo, described the disease in two sisters. Since then, the familial occurrence of Gaucher’s disease has been noted by several observers. About one-third of the published cases have occurred in members of the same family so that a hereditary factor is undoubtedly present. However, the family trees which have been published are suite few, and the exact mechanism by which the disease is inherited is still unknown. The present author has observed 2.1 cases of Gaucher’s disease. Seventeen were familial and occurred in six different families. Four more cases in these families could not be examined but the available evidence was sufficient to accept them as cases of Gaucher’s disease, which brings the total number of familial cases discussed in this report to i . Four other patients were seen in whom no other members of the family were affected. These were considered to be so-called “sporadic” cases. The clinical features of our patients have been described elsewhere.3’ It is the purpose of this paper to review the scanty data on the heredity of Gaucher’s disease from the literature and to present the family trees of the cases which have been observed by the author. In reviewing the literature excellent summaries have been found in the papers by Brill, Mandlebaum and Libman,5 Hoffmann and Makler,” Rowland,’6’ 17 Reiss and Kato,’4 Dc Lange,’2 Atkinson2 and Thannhauser)8 Atkinson’s admirable review of the cases of Gaucher’s disease described in children appeared in 1938 and has been especially valuable. In considering the familial cases in the literature, one is impressed by the following facts: .There have been 64 familial cases reported which occurred in twenty-five families. The inclusion of the cases described in this report would bring the total up to 89 in thirty-one families. 2.. In twenty-three of the families in the literature, the disease occurred in a “horizontal” spread only. By this is meant that the disease appeared to be present in the members of one generation only, namely in brothers and sisters or in cousins, but not in parents or grandparents or in the offspring of the patients. This peculiarity in the familial incidence of Gaucher’s disease is underlined in a statement by Hoffmann and Makler that “in no series cf children has either of the parents suffered from the disease nor has it been transmitted from any adult to a child.” 3. In only two families was there a “vertical” occurrence described.6’ 15 In these families the disease was found to be present in two generations; namely, inRettig’s case, in a father and his daughter,’5 and in the case described by Bychowski, in a father and three of his children.6 Quite recently Morgansi21 published a third

Cite this paper

@article{GROEN1948TheHM, title={The hereditary mechanism of Gaucher's disease.}, author={J GROEN}, journal={Blood}, year={1948}, volume={3 11}, pages={1238-49} }