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Progresión de la Poliquistosis renal autosómica dominante: Influencia de polimorfismos de genes de sintasa endotelial del óxido nítrico (ecNOS) y del sistema renina-angiotensinaKeywords: gfr decline, adpkd, at1a1166c, agtm235t, ecnosglu298asp. Abstract: glomerular filtration rate decline (gfrd) is variable in autosomic dominant polycystic kidney disease (adpkd). in 88 adpkd patients, gfrd was assessed by 1/scr and compared with the association to at1a1166c (at1r), agtm235t (angiotensinogen) and ecnosglu298asp (no endothelial synthase) polymorphisms. age at scr values of 2 and 6 mg/dl were assumed as beginning of progressive phase (a2) and end-stage-renal disease (a6), respectively. polymorphisms were studied by pcr-rflp. the group as a whole showed gfrd (ml/min/year) of 6.9±0.5; a2 and a6 of 48.9±1.3 and 55.0±1.4 years and mean arterial pressure of 111.2±1.2 mmhg. when a6 was considered, two populations were defined (£ and > 55 years). in £ 55 (assumed as pkd1 phenotype) (n=42), a2 and a6 of the at11166cc genotype were 36.0±1.2 and 41.4±0.9 years vs aa-ac (42.8±1.0 and 47.5±0.8, p<0.001). a2 and a6 of the ecnos298asp/asp genotype were 34.8±1.5 and 41.1±0.6 years vs. glu/glu-glu/asp (42.4±0.9 and 47.1±0.8, p<0.02). in agt235tt genotype, gfrd was 12.4±2.2 ml/min/year vs mm-mt (7.9±0.7, p<0.03). this difference was also observed when all adpkd patients were considered (tt: 11.02±1.5 vs. mm-mt: 6.44±0.5 ml/min/year, p<0.003). at1 1166cc and ecnos 298asp/asp are associated with earlier a2 and a6 whereas agt 235tt induce twofold increase in gfrd, suggesting that ras and ecnos are involved in adpkd progression.
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