Beyond Hematuria: An Unexpected Diagnosis of Autosomal Dominant Polycystic Kidney Disease in a Young Adult Without a Family History
Year: 2026
Type: article
Study design: Case Report
Abstract: Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common inherited renal disorders, yet its diagnosis may be delayed when initial symptoms overlap with more prevalent conditions such as urinary tract infection or nephrolithiasis. Premature diagnostic closure on these common etiologies can delay recognition of underlying renal disease, particularly in young adults without a known family history. We present the case of a 28-year-old man with no personal or family history of renal disease who was evaluated for gross hematuria. Renal imaging revealed extensive bilateral renal cysts. These findings, along with previously unrecognized hypertension and mild renal impairment, are consistent with ADPKD. This case emphasizes the importance of considering structural renal disease beyond common urinary etiologies in young adults presenting with unexplained hematuria and new-onset hypertension, even in the absence of a family history. Early recognition may prevent diagnostic delay, facilitate timely nephrology referral, and enable initiation of renoprotective therapy.
Source: Cureus
Institutions: Ross University School of Medicine, Dignity Health
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W7214663940