#5114 THE GENOTYPE DISTRIBUTION IN A SINGLE-CENTRE COHORT OF PATIENTS WITH POLYCYSTIC KIDNEY DISEASE

Abstract Background and Aims Polycystic kidney disease (PKD) is one of the most common causes chronic (CKD) could lead to end-stage (ESKD) both in adulthood childhood. In last few years many genes were discovered be associated with PKD beyond classical PKD1 PKD2, that account for majority patients ADPKD (Autosomal Dominant Kidney Disease), PKHD1 DZIPIL are responsible ARPKD Recessive Disease). The new different type extra-renal involvement variable chance develop CKD or ESKD. Thus, it important clinicians define what mutation involved each patient improve care a context precision medicine. We here describe cohort 65 consecutive followed at our outpatient clinic who underwent genetic analysis. Method conducted retrospective study test clinical reasons. recorded why was performed, which modality result. If analysis positive we analyzed if only more found mutated they belong described as being usually association diseases. Then, collected demographic information (age, sex, renal function/presence absence ESKD) radiological description kidneys order distinguish between typical atypical PKDs. Results Among 28 (43%) males 37 (57%) females, mean age 56±18.6 old; 20% had They reasons: 31 because forms, 6 suspected de novo mutation, 14 familiar screening better prognosis definition when approached transplant. two main ways: sequencing PKD2 according modern standards exome sequencing. first used forms whereas second displayed an presentation cysts distribution diameter (usually not enlarged multiple bilateral cysts) negative despite phenotype. 25% negative, others almost equally distributed gene mutations other (40% 35% respectively) (Figure 1A). Of those 81% 19% positive, reflects literature 1B). positivity: 52% DNAJB11 17% (ALG8, LRP5, PKHD1, COL4A1, IFT140), 32% CAKUT (congenital anomalies urinary tract) syndromic diseases 1C). 18 presented mutations, 2, case three another 4. them, 22% double while showed 1D). Conclusion Our revealed wide variety also equal atypical/other genes. This result small number monocentric design (we have cluster belonging same geographical area), but larger inclusion presenting Unfortunately remained genetically unresolved use