Autosomal dominant polycystic kidney disease: Study of clinical characteristics in an Indian population.

Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary form of kidney disease. Clinical data on this multisystem disorder are scarce from developing countries. We conducted a prospective observational study of the clinical profile of ADPKD patients at a single center over a period of six years. A total of 208 patients were studied. Majority were male (60.6%) and the mean age was 45.8 ± 14.5 years. About 61.5% had early stage (Stages 1-3) of chronic kidney disease (CKD) and 38.5% had advanced CKD (Stages 4 and 5). Clinical features observed included pain abdomen (46.2%), nocturia (65.9%), hematuria (21.6%), nephrolithiasis (38.9%), urinary tract infection (UTI) (38.9%), hypertension (69.5%), and raised serum creatinine (54.3%). The prevalence of nocturia, hypertension, and renal dysfunction showed a significant increase with age (P = 0.001). Extrarenal manifestations were polycystic liver disease in 77 patients (37%), cysts in pancreas in two (1%), and stroke in three (1.5%) (hemorrhage in 2 and infarct in 1). There was significantly higher prevalence of hypertension (P = 0.027) and nephrolithiasis (P = 0.044) in males compared to females. Ninety-two patients (44.2%) had a positive family history for ADPKD. Fifteen (7.2%) had kidney failure at the diagnosis of ADPKD, were hospitalized, and underwent emergency dialysis. A total of 20 patients (9.6%) developed end-stage kidney disease during the study period. The age at diagnosis was higher, and there was a high prevalence of hypertension, nocturia, abdominal pain, nephrolithiasis, UTI, and renal dysfunction in Indian ADPKD patients.