Clinical manifestations, imaging findings and laboratory abnormalities in 51 patients with autosomal dominant polycystic kidney disease: Experience at Tirupati, South India

Background: Autosomal dominant polycystic kidney disease (ADPKD) is an important cause of renal failure. Sparse recent data are available on clinical presentation ADPKD from India. Methods: We retrospectively studied the clinical presentation, imaging findings and laboratory abnormalities in 51 patients diagnosed to have ADPKD at our tertiary care teaching hospital at Tirupati, South India. Results: Their mean age at presentation was 49.1± 13.2 years; there were 32 (63%) males. Salient renal clinical manifestations at initial presentation included abdominal pain (47%); fever (35%), shortness of breath (33%); palpable mass per abdomen (25%); burning micturition (20%); haematuria (10%); and renal/ureteric caliculi (12%). Other manifestations were headache (21%); altered sensorium (12%); intracerebral bleed (8%) and chest pain (8%). Family history of ADPKD was present in 13 (26%) patients. On imaging studies kidneys were normal sized in 39%, enlarged in 59% and small sized in one patient; co-existent liver cysts were found in 12 patients. Hypertension (n = 20, 40%); chronic kidney disease (CKD) (n = 36, 71%) were evident at initial presentation. Other associated co-morbid conditions were type 2 diabetes mellitus (n = 6); Marfan's syndrome with mitral valve prolapsed and renal cell carcinoma (one patient each). Conclusions: In Tirupati, South India, ADPKD most commonly presented in fourth or fifth decade of life. Males were affected more frequently than females. Presence of CKD, hypertension at the time of inital diagnosis suggests that ADPKD is diagnosed late in the course of the disease. A high index of suspicion, specific diagnostic work-up including abdominal ultrasonography is required to diagnose ADPKD.