Abstract: TH-PO0635
Beyond Clinical Limits: Genetic Testing as a Key Tool to Correctly Identify the Cause of Microhematuria
Session Information
- Genetic Diseases of the Kidneys: Complex Kidney Traits
November 06, 2025 | Location: Exhibit Hall, Convention Center
Abstract Time: 10:00 AM - 12:00 PM
Category: Genetic Diseases of the Kidneys
- 1202 Genetic Diseases of the Kidneys: Complex Kidney Traits
Authors
- Ciavaglia, Carolina, University of Florence, Department of Biomedical Experimental and Clinical ''Mario Serio'', Florence, Italy
- Latessa, Andrea, Nephrology and Dialysis Unit, Meyer Children's Hospital IRCCS, Florence, Italy
- Innocenti, Samantha, Nephrology and Dialysis Unit, Meyer Children's Hospital IRCCS, Florence, Italy
- Cirillo, Luigi, Nephrology and Dialysis Unit, Meyer Children's Hospital IRCCS, Florence, Italy
- Palazzo, Viviana, Nephrology and Dialysis Unit, Meyer Children's Hospital IRCCS, Florence, Italy
- Landini, Samuela, Nephrology and Dialysis Unit, Meyer Children's Hospital IRCCS, Florence, Italy
- Raglianti, Valentina, Nephrology and Dialysis Unit, Meyer Children's Hospital IRCCS, Florence, Italy
- Mazzinghi, Benedetta, Nephrology and Dialysis Unit, Meyer Children's Hospital IRCCS, Florence, Italy
- Allinovi, Marco, Nephrology, Dialysis and Transplantation Unit, Careggi University Hospital, Florence, Italy
- Romagnani, Paola, Nephrology and Dialysis Unit, Meyer Children's Hospital IRCCS, Florence, Italy
- Becherucci, Francesca, Nephrology and Dialysis Unit, Meyer Children's Hospital IRCCS, Florence, Italy
Background
The aim of this study was to identify clinical and laboratory features that predict a conclusive genetic diagnosis of collagenopathies long- term outcomes in patients with persistent microhematuria.
Methods
In this monocentric, retrospective study, we enrolled patients with persistent microhematuria who underwent genetic analysis with whole exome sequencing (WES) at our Center. Patients were classified in two groups (genetic and non- genetic) according to the results of genetic testing. Between groups differences were evaluated through Student’s t test, Mann-Whitney U test and Chi-square test with Yates correction, as appropriate. Kaplan–Meier estimates were used to generate an overall survival curve for the development of CKD in genetic and non-genetic group. Differences among groups were assessed by log-rank test. Logistic regression models were used to estimate the risk of CKD. Results were reported as crude odds ratios (ORs), with 95% confidence intervals (95% CIs). A P value <0.05 was considered statistically significant.
Results
We enrolled 112 patients. The median level of hematuria at onset was 96 red blood cells per high power field (RBC/HPF; IQR 20-3402 RBC/HPF). The median length of follow-up was 6.5 years (IQR 3-51 years). Kidney biopsy had been performed prior to referral in 35/112 (31%) cases. WES combined with reverse phenotyping led to a conclusive genetic diagnosis in 83/112 (75%) cases. The median length of follow-up was 4 years (IQR 5-2 years) in the genetics and 3 years (IQR 1-10 years) in non-genetics. We observed CKD in 16/64 (25.1%) genetics and in 13/29 (44.9%) of non-genetics (p =0.095). Kaplan Meier kidney-survival analysis showed that non-genetics had a significantly worse kidney survival rate in comparison to genetics (p=0.019). At univariate analysis, birth weight, birth age, proteinuria, hypertension at onset were not found to increase the risk of CKD at last follow- up, whereas the presence of eGFR <90 and <60 ml/min/1.73mq at onset (OR 5,3455 IC 95%: 1,4197 - 20,1273; OR 6,92 IC 95 %: 1,13-42,13 ) were significant predictors for development of CKD at last follow-up (p= 0.03).
Conclusion
The results of this study highlight the need for genetic testing to provide a conclusive diagnosis.