Clinical and laboratory profile of patients with autosomal dominant polycystic kidney disease (adpkd)

Abstract BACKGROUND AND AIMS Recent advances in the treatment of autosomal dominant polycystic kidney disease (ADPKD) highlight the interplay between the clinical and 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 and explore possible associations between demographic, clinical and laboratory parameters. METHOD This study enrolled patients who were being followed in a specialized outpatient ADPKD clinic from December 2018 to December 2021. 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 imaging for total kidney volume (TKV) measurement was performed. RESULTS Three hundred (162 women and 138 men) ADPKD patients at a mean age ± SD of 40.87 ± 12.9 years were enrolled in the study. Overall, 67.3% of them were classified as chronic kidney disease, stage 1 and stage 2. The ADPKD was diagnosed at a mean age ± SD of 27.2 ± 11.65 years. Twenty-six % of 300 patients were diagnosed before the age of 20. A positive family history was present in 89.75% of patients. In this subgroup, the median age of the affected parent who reached end-stage renal disease was 55 (range 28–87) years. Hypertension was diagnosed in 88% of the patients at a mean ± SD age of 35.89 ± 11 years. Hepatic cysts were present in 78% of them, urinary tract infections, nephrolithiasis, macroscopic hematuria and pain in 44.87%, 43%, 24.71% and 54.23%, respectively. In 31% of the cases, there was a family history of intracranial bleeding. In multivariable analysis, lower eGFR was associated with older age (P < 0.001), younger age at the time of ADPKD diagnosis (P < 0.012) and greater values of the height-adjusted TKV (P < 0.001) and body mass index (BMI, P = 0.11). CONCLUSION In this study, patients with ADPKD were diagnosed at a young age and hypertension developed in the majority of them early in the course of the disease. Renal function was influenced by age, height-adjusted cyst renal volume, early diagnosis of ADPKD and BMI.