Publication: Gaucher's disease;thirty-two years experience at Siriraj Hospital
Issued Date
1999-12-01
Resource Type
ISSN
01251562
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2-s2.0-0346551567
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Mahidol University
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SCOPUS
Bibliographic Citation
Southeast Asian Journal of Tropical Medicine and Public Health. Vol.30, No.SUPPL. 2 (1999), 143-147
Suggested Citation
Voravarn S. Tanphaichitr, Vinai Suvatte, Chularatana Mahasandana, Prasit Sachapong, Gavivann Veerakul, Suthida Kankirawatana, Pornswan Wasant Gaucher's disease;thirty-two years experience at Siriraj Hospital. Southeast Asian Journal of Tropical Medicine and Public Health. Vol.30, No.SUPPL. 2 (1999), 143-147. Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/25499
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Gaucher's disease;thirty-two years experience at Siriraj Hospital
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Abstract
Gaucher's disease, a lysosomal disorder, is not a common disease in Thailand. During the period 1966-1998 we saw 20 patients with Gaucher's disease at the Department of Pediatrics, Siriraj Hospital. The patients came from different regions of the country but mostly from the central part of Thailand. There were 8 males and 12 females from 13 families of Thai, Thai-Chinese, Thai-Laos and Chinese-Chinese in origin. A history of consanguinity was present in 2 families. The age of onset was 2 months-4 years and the age when they were diagnosed was 4 months-15 years. The most common clinical features included splenomegaly, hepatomegaly, growth retardation, pallor, bleeding disorders and neurological abnormalities. The diagnosis was made by the clinical manifestations, hematologic complications and demonstration of Gaucher cells in the bone marrow and/or other tissues. In one family, the diagnosis was confirmed by evaluation of glucocerebrosidase activities in skin fibroblasts. The management of these patients was symptomatic ie packed red cell and platelet transfusion, splenectomy and other supportive measures. Most patients died of bleeding or infection at an early age.