GAUCHERS-DISEASE IN CHILDREN - PROBLEMS AND NEW TREATMENT APPROACHES

Gaucher's disease in children: problems and new treatment approaches. N. A. Torubarova, A. A. Basistova, I. V. Koshel, I. V. Dubrovina, E. P . Klykova. Research Pediatry Institute, Moscow, Russia. Diagnosis and treatment of Gaucher's diseases are described for 36 children aged 2.5 -15 years. 6-year follow-up data allowed the conclusion that the disea se takes the most severe course in involvement of bones and central ne rvous system. Data on genetic DNA markers for Gaucher's diseases in th e examinees are provided. Most frequent were the following DNA mutatio ns: 1226G, 1448C, 1297T. Main mutant alleles were: N 370S (c-DNA 1226g ), L445P (c-DNA 1448c). The authors discuss feasibility of the disease treatment with ceredase which is a natural analogue of the enzyme glu cocerebrosidase (GCS). It is the deficiency of GCS that causes Gaucher 's disease. Referral Centers are advocated which employ hematologists, geneticists, surgeons, radiologists, endocrinologists, specialists in this disease diagnosis, treatment and rehabilitation. Medicogenetic a dvice helps to detect the disease and predict its course.