[Type I Gaucher's disease--a rare genetic metabolic disease]

Morbus Gaucher is a rare disease. It occurs once in 40,000 to 65,000 persons in the whole world. This is the most frequent lysosome disease in the clinics. This is the first lysosome disease used in perinatal diagnostics and the first one where enzyme therapy was implemented. Case of gaucher disease morbus type I was found in girl of age 14 in Cantonal hospital "Dr. Irfan Ljubijankić" in Bihać. The clinical investigations were carried out at the same hospital, and samples necessary for the further detailed biochemical analysis were taken together with all other relevant data for this disease. In this case, taking into account rules of distribution of certain genes responsible for transfer of characteristics and processes, and following genealogical series, it could be concluded that parents of our patient are heterozygotes (healthy) and carriers of Gaucher gene, and that 1/4 of their children are dominant homozygotes (healthy), 2/4 are heterozygotes (healthy) and carriers of Gaucher gene, and 1/4 of children, together with the patient, are recessive homozygotes, and carriers of Gaucher gene with expression of the type I of this disease. For therapy of Gaucher disease there are in the market two enzyme. Aglucerosis obtained from human placenta and imiglucerasis obtained from cells of ovarian of hamster. The second preparation is cheaper and it is in wide use. There are no differences in the activity, as well as in creation of antibodies--the enzyme entered in use for the first time in 1989, and since 1991 is in wide use. In Bosnia and Herzegovina, therapy is not possible due to the financial restrictions.