Kidney Week

Abstract: SA-PO570

Integrating Genotype and Phenotype Data Is Required for Kidney Survival Prediction in Autosomal Dominant Polycystic Kidney Disease

Session Information

• Cystic Kidney Diseases: Genetic Causes, Modifiers, and Extrarenal Manifestations
  October 26, 2024 | Location: Exhibit Hall, Convention Center
  Abstract Time: 10:00 AM - 12:00 PM

Category: Genetic Diseases of the Kidneys

• 1201 Genetic Diseases of the Kidneys: Cystic

Authors

• Gkalitsiou, Dimitra, General Hospital of Athens Georgios Gennimatas, Nephrology Department, Athens, Greece

Dimitra Gkalitsiou, DrMed

• Evangelou, Eirini, General Hospital of Athens Georgios Gennimatas, Nephrology Department, Athens, Greece

Eirini Evangelou, MD

• Konsta, Maria, Department of Rheumatology, Sismanoglion General Hospital, Athens, Greece

Maria Konsta, MD, PhD

• Vasiliou, Kiriaki, General Hospital of Athens Georgios Gennimatas, Nephrology Department, Athens, Greece

Kiriaki Vasiliou, MD

• Poula, Aggeliki, General Hospital of Athens Georgios Gennimatas, Nephrology Department, Athens, Greece

Aggeliki Poula

• Markou, Niki, General Hospital of Athens Georgios Gennimatas, Nephrology Department, Athens, Greece

Niki Markou, MD

• Poulli, Tsielestina, General Hospital of Athens Georgios Gennimatas, Nephrology Department, Athens, Greece

Tsielestina Poulli, MD, MSc

• Lazaros, Leandros, Genesis Genoma Lab Genetics Diagnosis, Clinical Genetics & Research, Athens, Greece

Leandros Lazaros, PhD

• Liaveri, Paraskevi, General Hospital of Athens Georgios Gennimatas, Nephrology Department, Athens, Greece

Paraskevi Liaveri

• Tsirpanlis, George I., General Hospital of Athens Georgios Gennimatas, Nephrology Department, Athens, Greece

George I. Tsirpanlis, MD

Background

Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the cause for 5-10% of End Stage Kidney Disease (ESKD) worldwide. Accurate renal prognosis is essential for effective disease management. Investigation of the prognostic value of combining genetic and phenotypic characteristics in a cohort of ADPKD patients is attempted.

Methods

In 66 ADPKD patients (mean age 33 ± 12 years, 32 males), the genetic diagnosis (using targeted Next Generation, tNGS, or Sanger Sequencing or Multiplex ligation-dependent probe amplification, MLPA) and the Mayo Clinic Imaging Category (MCIC) (through Renal Magnetic Resonance Imaging, MRI, for Total Kidney Volume measurement) were assessed. The prediction of ESKD was performed using the Mayo Clinic formula (Irazabal MV et al JASN, 2015). The calculation incorporated variables such as sex, age, e-GFR, and the MCIC. The PROPKD score was derived by considering both phenotypic factors (sex, hypertension and urologic events before the age of 35 years) and genetic data (PKD1-truncating, PKD1- non truncating and PKD2).

Results

Adjusted for age, the e-GFR was on average, 26 and 27 ml/min higher in PKD2 patients compared to ADPKD-PKD1-truncating and ADPKD-PKD1-non-truncating patients, respectively (p = 0.001). The median prediction of ESKD for ADPKD-PKD1-truncating, ADPKD-PKD1-non-truncating and PKD2 patients was 22 (11-31) years, 22 (11-34) years and 31 (21-59) years, respectively (NS). In patients categorized as high risk according to PROPKD (score 7-9) the predicted time to ESKD was 16 (9-30) years, for those at intermediate risk (score 4-6), 25 (13-34) years and for those at low risk (score 0-3), 28 (16-55) years (NS). Finally, the PROPKD score showed an inverse correlation to the years of ESKD prediction, as determined by the Mayo Clinic formula; a higher PROPKD score was associated with a shorter prediction period for ESKD (Spearman r = -0.3, p = 0.04).

Conclusion

Prognosis of renal survival in ADPKD patients requires not only a specific genetic diagnosis but also consideration of the phenotypic data, as incorporated in the PROPKD score, enhancing the accuracy of renal survival prediction.