Abstract

Abstract Background and Aims Recent advances in the treatment of Autosomal Dominant Polycystic Kidney Disease (ADPKD) highlight the interplay between the clinical and the laboratory profile of the disease. This study aims to present the baseline characteristics of patients followed in a large ADPKD cohort from a single center in Greece, and explore possible associations between demographic, clinical and laboratory parameters. Method Patients followed in a specialized outpatient PKD clinic from December 2018 up to December 2019 were recruited in this study. At enrollment, demographics, medical and family history and laboratory data were recorded using a standardized form. Estimated glomerular filtration rate (eGFR) was calculated and Magnetic Resonance Imagining for total kidney volume (TKV) measurement was performed. Results One-hundred three females and 83 males with a mean age±SD of 41.4 ± 13 years (18.8 % < 30 years) were enrolled. Overall, 60.8% of them were classified as Chronic Kidney Disease, (CKD) stage 1 and 2. The ADPKD was diagnosed at a mean age±SD of 26.5±12.5 years. Thirty four percent out of 186 patients were diagnosed before the age of 20 and 9% of them before the age of 10. A positive family history was present in 89% of patients. In this subgroup, the median age of the affected parent that reached end stage renal disease (ESRD) was 55 (range 28-87) years. Hypertension was diagnosed in 89% at a mean± SD age of 37.2 ± 10.5 years. Hepatic cysts were present in 79.3% of patients, urinary tract infections, nephrolithiasis, macroscopic hematuria and pain in 44.3%, 42.5%, 24.8% and 54.4% respectively. A history of intracranial bleeding in family was positive in 21.5%. In multivariable analysis, lower eGFR was associated with younger age at the time of APKD diagnosis (p < 0.002), younger age at hypertension diagnosis (p < 0.08) and greater values of TKV (p < 0.001), height adjusted TKV (p < 0.001) and Body Mass Index (BMI) (p = 0.02). Conclusion In this study, patients with ADPKD were diagnosed at a young age and hypertension developed early on the course of the disease. Both these factors together with higher values of BMI and TKV were independently associated with low eGFR.

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