Introduction:
Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disease accounting for 5–10% of patients with end-stage renal disease. It is a multisystemic monogenic disorder characterized by renal cysts and frequently in other organs such as the liver pancreas and spleen. The aims and objectives of our study is to evaluate various clinical presentations, epidemiology, imaging, and laboratory abnormalities in ADPKD.
Methods:
Ours is an Observational ambi-spective cohort study with a sample size of 50 conducted from August 2022 to August 2024. Study participants meeting the Ravine criteria with an eGFR >15 ml/min/ 1.73m2 have been included. After obtaining written informed consent, we evaluated the study subjects for a detailed history, and demographic characteristics (age, gender, educational status, family history, drug history). We recorded their renal manifestations (flank pain, hematuria, UTI) and evaluated them for various renal and extrarenal manifestations and relevant biochemical investigations. Statistical analysis was done using recent (SPSS) software, version 25.0. For statistical significance, a p-value of less than 0.05 was considered statistically significant.
Results:
The mean (SD) of the age in our study was 48.00 (11.98). 30.0% of the participants had an Age of 51–60 Years. 46.0% of the study participants were male, whereas 54.0% were female. 38 (76%) patients had a positive family history, whereas 12 (24%) had no family history. Of the 38 (76%) patients, 22 (44%) were index cases, whereas 16 (32%) were the affected relatives.32 (64%) of the patients had their presenting complaint as flank pain followed by abdominal fullness in 12 (24%), fever in 3 (6%), and hematuria in 2 (4%) and altered sensorium in 1 (2%) of the patients. Renal dysfunction was present in 30 (60%) of the patients, hypertension in 26 (52%), and proteinuria in 24 (48%). the patients. 15 (30%) of them had UTIs and 9 (18%) had urological complications. Hepatic cysts were the most common extrarenal manifestation in 14 (28%), followed by diverticular disease in 2 (4%), and cysts in other sites like the pancreas in 2 (4%), cardiac valvular abnormalities in 1 (2%) and intracranial aneurysms in 1 (2%) of the patients. The mean right kidney volume was found to be 152.06±64.45 and to the left kidney, it was 162.36±80.07. Total kidney volume was found to be 314.44±138.16.All the patients were found to be under Mayo imaging class 1A. Age, systemic hypertension, and proteinuria are found to be the factors that are found to be significant in our study for the rapid decline in eGFR with a p-value < 0.05.
Conclusions:
Ours is one of a few Indian studies that evaluated a wide variety of epidemiological, clinical, and biochemical parameters in patients with ADPKD. Family history is strongly positive in our study when compared to other Indian studies.Limitations include our study being a single-center study and a lack of Genetic analysis.
I have no potential conflict of interest to disclose.
I did not use generative AI and AI-assisted technologies in the writing process.