Clinical profile, imaging characteristics, and laboratory parameters in autosomal dominant polycystic kidney disease: a single-center observational study

Background Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disorder, accounting for 5–10% of end-stage kidney disease cases worldwide. It is a monogenic, multisystem disorder characterized by progressive bilateral renal cysts and frequent extrarenal involvement. The aim of this study is to evaluate the demographic and familial profiles, clinical presentations, imaging characteristics, and biochemical abnormalities of patients with ADPKD. Patients and methods This ambispective observational cohort study was conducted at a tertiary care center in North India from August 2022 to 2024. Fifty adult patients diagnosed with ADPKD based on Ravine ultrasonographic criteria and with an estimated glomerular filtration rate (eGFR) greater than 15 ml/min/1.73 m 2 were enrolled. eGFR was calculated using the CKD-EPI 2021 creatinine-based equation. Demographic, clinical, imaging, and laboratory data were collected and analyzed using SPSS version 25.0. Results The mean age was 48.0 ± 12.0 years, and 54% were females. A positive family history was present in 76%, including 44% of index cases. Common presenting symptoms included flank pain (64%) and abdominal fullness (24%). Renal dysfunction, hypertension, and proteinuria were observed in 60, 52, and 48% of participants, respectively. Hepatic cysts were the most frequent extrarenal manifestation (28%). The mean total kidney volume by ultrasound was 314.4 ± 138.2 ml. Older age, hypertension, and proteinuria were significantly associated with lower eGFR ( P <0.05). Conclusion This study provides one of the few detailed Indian datasets describing the clinical, biochemical, and imaging spectrum of ADPKD. Older age, hypertension, and proteinuria emerged as key predictors of renal function decline. In resource-limited settings, these simple clinical parameters can guide risk stratification and management. Larger multicenter studies incorporating genetic testing and MRI-based volumetry are needed for further validation.