CLINICAL AND GENETIC-STUDIES OF 5 FATAL CASES OF JAPANESE GAUCHER-DISEASE TYPE-1

Five fatal cases of Japanese patients with type 1 Gaucher disease were studied. The causes of death included hemorrhage secondary to esophag eal varices (two cases), respiratory distress (one case), hepatic fail ure (one case) and postoperative sepsis (one case). All of the patient s had previous splenectomies, four patients had bone involvement and h epatic cirrhosis. The identified Gaucher genotypes were 1448C/1213G, 1 603T/1603T, 1448C/1390G, ?/? and 1213G/1213G. The prognosis of type 1 Gaucher disease is generally good. We propose that patients with a sim ilar clinical course and genotype to those presented in the present st udy should receive prompt comprehensive treatment. Patients with the 1 213G mutation, pulmonary and liver involvement and a previous splenect omy should be considered as candidates for early vigorous treatment.