Clinical and Radiological Characteristics of Patients with Autosomal Dominant Polycystic Kidney Disease: A Single- center Observational Study

Abstract

Background: Autosomal dominant polycystic kidney disease (ADPKD) has a heterogeneous clinical course, and clinical, biochemical, and imaging characteristics are important for assessing disease burden and progression risk. Aims: This study aimed to describe these characteristics in patients attending a tertiary nephrology service in South India. Methodology: This retrospective and prospective single-centre observational study identified 52 adults with ADPKD over a 2-year period; 9 were lost to follow-up, leaving 43 patients for analysis. Demographic characteristics, family history, clinical manifestations, CKD stage, laboratory findings, kidney dimensions, total kidney volume (TKV), height-adjusted TKV (htTKV), Mayo Imaging Classification (MIC), genetic testing where available, and tolvaptan use were recorded. Patients were followed for up to 24 months, and available 12-month changes in htTKV and serum creatinine were described. Results: The mean age was 51.39 ± 12.64 years and 23 (53.5%) patients were women. A positive family history was present in 33 (76%). Twenty patients (47%) had CKD-5D. Mean serum creatinine was 3.97 ± 1.79 mg/dL, mean TKV was 2,534.91 ± 1,736.63 mL, and mean htTKV was 1,678.05 ± 1,134.00 mL/m. Most patients were classified as MIC 1C–1D (73%). Among 15 patients in CKD stages 2–4, 7 received tolvaptan and 8 did not. In the available stage-specific comparisons, htTKV increased less over 12 months in the tolvaptan groups than in the non-tolvaptan groups; reported P values were 0.03 for CKD stage 2 and 0.01 for CKD stage 4. Serum creatinine differences were not statistically significant in the reported comparisons. Conclusion: This tertiary-care cohort demonstrates substantial disease burden and late-stage presentation among Indian patients with ADPKD. Family history was common, and imaging showed a high burden of enlarged kidneys. TKV/htTKV and MIC may assist risk assessment. The tolvaptan comparisons are exploratory because of the small, non-randomised subgroups. Larger prospective multicentre studies are required.