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Revista Cubana de Medicina
versión On-line ISSN 1561-302X
Resumen
ROJAS BETANCOURT, Iris et al. Registro genético preventivo automatizado de la enfermedad poliquística renal autosómica dominante. Rev cubana med [online]. 1998, vol.37, n.2, pp. 72-76. ISSN 1561-302X.
It was decided to created an automated genetic registry of the autosomal dominant polycystio kidney disease, taking into account that it is a common phenomenon and that there is a national program for its attention. A methodology developed by the authors was used to enable the study and systematic follow-up of many families and their genetic attention. The clinical, genetic and epidemiological characterization of 111 families was attained during the first three years and the feasibility of the methodology was proved. 2 870 affected patients or at risk received genetic counseling and follow-up. Several investigations were designed to improve their attention and follow-up.
Palabras clave : KIDNEY, POLYCYSITIC, AUTOSOMAL DOMINANT; GENETIC COUNSELING, DISEASES REGISTRIES; FOLLOW-UP STUDIES.