Mo064assessment of Kidney Survival in Patients Affected by Adpkd

Abstract

Background and Aims Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary nephropathy that causes kidney failure and the need for renal replacement therapy (RRT). It has recently been established that there is a genotype-phenotype relationship for this disease, with differences in the age of access to TRS if the involvement occurs in the PKD1 or PKD2 gene and if the variant is truncating or not. Identifying patients at high risk for rapid progression has become increasingly important given the emergence of potential new treatments such as tolvaptan. Method Studies are carried out in 23 families affected in which a genetic study has previously been the variant identified. For the survival analysis, the Kaplan-Meier test was performed. Data are expressed in terms of mean ± SD, median and %. Results The data described in Table 1 show that there is huge variability of access to RRT according to the type of variant found in the family. We found families in which the age at which kidney failure occurred ranged from 48.03 (28.38-67.68) years to families in which RRT began with 78.04 (65.06-91.03). We observed that those families that present a variant with a stop or frameshift codon suffer a loss of kidney function before those that present a missense variant. In the variants with a stop or frameshift codon, we observed that they ranged from 48.03 (28.38-67.68) for the variant c.7480G> T (p.Glu2494 *) to 73.75 (61.52-85, 98) in variant c.9616C> T p.Gln3203 *. In those missense variants, the age of access to RRT ranges from 62.17 (60.43-63.91) to 77.13 (71.56-82.71) Conclusion Advances in studies of the genes involved in ADPKD are expanding the identification of new variants and the knowledge about their involvement in the progression of the disease. The correlation between genotype and kidney disease will provide a useful clinical prognosis for ADPKD and will allow us to establish current and future treatments.