Korean Gaucher Disease Patient Registry / 대한소아혈액종양학회지

ABSTRACT

BACKGROUND: This study is aimed to identify Gaucher disease(GD) patients(pts.) in Korea in order to better understand the incidence, clinical phenotype and its natural history and to establish pt. registry. The registry is to provide collective data, which will lead to early diagnosis, effective treatment and better management of pts. METHODS: (1)Questionnaires designed to identify GD pts. were sent to all members of Korean Pediatric Hemato-Oncology Society in 1997 and other inquiring physicians. (2) All published papers on GD were searched in Korean Medical Journals to Feb. 1988. RESULTS: Review of data obtained from questionnaire survey and literature search yielded a total of 44 pts. in 31 pedigrees. 33 of them were reported as type I(chronic, non- neuronopathic), 6 pts. as type II(acute, neuronopathic) and 5 pts. as type III(subacute, neuronopathic). As for the most common type I pts, all 33 but one were diagnosed in infancy and childhood(7mon~18y.o), 11 of them died during childhood(1yr~18y.o), 10 pts. were not known whether alive or dead and 12 pts. are alive and followed up. All 6 type II pts. were diagnosed during infancy and 4 of them died before age of two. All 5 type III pts. in 2 families developed myoclonic seizures in late teens and two died in early twenties and three of them being followed up by neurologists. CONCLUSION: A total of 44 GD pts. in 31 Korean families are identified, which is consistant with autosomal recessive mode of inheritance pattern in all three clinical phenotypes. As of Feb. 1988, 18 pts. were registered in Korean Gaucher Registry; 12 type I pts, 2 type II pts. and 4 type III pts. In case of type I pts., early onset in younger age and rapid progression of disease resulted in high mortality and morbidity compare to GD pts. among Caucasian esp. the most prevalent Ashkenazi Jewish population. Therefore, early diagnosis and effective treatment with Enzyme Replacement Therapy will be desirable for better management of Korean GD pts.