Abstract: PUB197
Preliminary Clinical Characterization of the ORIENTING Cohort for Trio Genetic Analysis
Session Information
Category: Genetic Diseases of the Kidneys
- 1202 Genetic Diseases of the Kidneys: Complex Kidney Traits
Authors
- Di Lecce, Giulia, University of Modena and Reggio Emilia, Dep. CHIMOMO, Modena, Italy
- Magistroni, Riccardo, University of Modena and Reggio Emilia, Dep. CHIMOMO, Modena, Italy
Group or Team Name
- Orienting Study Group.
Background
Chronic Kidney Disease often has a genetic basis, yet many patients lack a molecular diagnosis.The ORIENTING study aims to assemble a well-phenotyped CKD cohort for subsequent trio genomic analysis to enhance diagnostic accuracy and guide personalized management
Methods
From January to May2025, 89patients were recruited across four Italian nephrology centers. Eligibility included a previous non conclusive genetic test other than WGS and availability of both parents. At first visit we recorded age, sex, main clinical presentation,blood pressure,eGFR(CKD-EPI),and Clinical Genetic Scoring System. Continuous variables are reported as median; categorical as n(%)
Results
Median age was 57.2 years; 65% female(Tab1). The most common presentations were glomerulopathy(30%),cystic kidney disease(27%) and CAKUT(7%)(Fig1).CGSS ranged 0–7; 52% scored≥1, indicating moderate to high pretest probability of monogenic disease(Fig2).Data completeness exceeded 90% for all key variables
Conclusion
The ORIENTING recruitment cohort is phenotypically diverse, with over half of patients having elevated CGSS scores.These preliminary data support the selection of high-priority samples for trio genomic sequencing to maximize monogenic diagnosis yield in CKD.Minister of Healt PNRR-MCNT2-2023-12377268
Funding
- Government Support – Non-U.S.