#5983 PULMONARY INVOLVEMENT IN AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE

Abstract Background and Aims Autosomal dominant policystic kidney disease (ADPKD) is the most common genetic disease. It caused by mutations in PKD1 PKD2 genes, which encode for polycystin-1 (PC-1) polycystin-2 (PC-2), two proteins localized primary cilia regulate calcium permeability cellular signaling pathways. The major phenotype of formation multiple cysts kidneys but many cases it also involves other organs like heart, brain lungs. latters are not yet well studied; some papers report a higher prevalence bronchiectasis ADPKD patients compared to general population; morover, one work describes absence PC-1 motile pts controls, who actually do express protein. Based on available literature, we hypothesized that PC-2 could have role cilia. Exaled nasal nitric oxide (nNO) an indirect marker dysfunction, standardized screening ciliary dyskinesia, ciliopathy, very low levels nNO found because entrapment NO abundant stagnant mucus. Method We recruited 27 with 25 randomly selected controls. measurements between groups, stratifying truncated eGFR. After stratification according mutation, analyzed separately each subgroups control group. Results were no different healthy controls (mean ± standard deviation: 850±240 vs 923±290; P = .3). However sub-group analysis, lower mutation (769±164) group (924±290, .05). No association was observed renal functions expressed as eGFR levels. Discussion Overall did differ individuals although exhibiting mutation. Conclusion Even at edge statistical significance (P .05), given it's confirmed wider population, this finding signify carry more aggressive genotype (PKD-1 mutation) may polycystins cilia; aspect line verified knowledge kind ends up total On hand, missense still protein cilia, therefore without any functional impairment.