OP19. RETROSPECTIVE STUDY REGARDING THE TREATMENT IN A SERIES OF 4311 PATIENTS WITH GENETIC DISORDERS
C. JURCA, M. Bembea, O. Florea, D. Bembea Faculty of Medicine and Pharmacy ORADEA Clinical Children Hospital ORADEA - ROMANIA email: cbenchea@yahoo.com
*Corresponding Author:
page: 43

Abstract

For a long time it has been believed, wrong, that genetic diseases are incurable and can benefit only from as much as a preventing or general supportive treatment. Actually, it is known that many genetic disorders can be corrected through specific treatments and that, virtually, supportive or symptomatic treatments can be applied in all genetic diseases. The more and more precise knowledge of physiopathology, pathogeny and, lately, of the molecular substrate of the genetic diseases have led to remarkable therapeutic progresses. It has been studied retrospectively the treatment made on a number of 4311 children having genetic anomalies registered in the Genetics Department of the Clinical Children Hospital Oradea between1983-2005 and there have been statistically measured the used therapeutic means compared to different types of genetic anomalies. Of the 4311 patients, 1174 (27,2%) benefited from drug treatment, 1005 (23,3%) surgical treatment, 383 (8,9%) orthopedic treatment, 412 (9,6%) special education, 684 (15,9%) physio-kineto-therapy, 146 (3,4%) other treatments and 362 (8,4%) didn't make any kind of treatment. There are minutely analyzed the used therapeutic variants, according to the type of genetic disorders: singular (malformations, disruptions, deformations, displasias) or multiple (syndromes, sequences, associations) and according to the affected system or organs, using the OMS classification. The better knowledge of the therapeutic procedures in the genetic diseases bring important benefits for the current practice of genetics department allowing more effective therapeutic and economic strategies. Keywords: genetic diseases, treatment.




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