Does polycystic kidney disease present with hematuria?

Does Polycystic Kidney Disease Present with Hematuria?

Yes, hematuria is a common and clinically significant manifestation of autosomal dominant polycystic kidney disease (ADPKD), occurring in 5–15% of children and up to 63–64% of adults with the condition. 1, 2

Epidemiology and Frequency

• Macroscopic (gross) hematuria occurs in approximately 5–15% of pediatric ADPKD patients, demonstrating that bleeding can present early in the disease course. 3, 1
• In adult populations, the prevalence is substantially higher, with 42–64% of patients experiencing at least one episode of gross hematuria during their lifetime. 4, 5
• The mean age at first episode of gross hematuria is approximately 30 years, with only 10% of patients reporting their initial episode before age 16. 5
• Among those who experience hematuria, 23% will have more than six occurrences throughout their disease course. 5

Pathophysiology and Associated Factors

• Cyst hemorrhage is the most frequent cause of hematuria in ADPKD, though other etiologies include cyst infection, urinary tract infection, nephrolithiasis, and rarely underlying malignancy. 6
• Patients with hypertension are more likely to develop gross hematuria (48% versus 30% in normotensive patients), and those with hematuria tend to have larger kidney volumes (820 cm³ versus 588 cm³). 5
• In adults, macroscopic hematuria is directly associated with enlarged total kidney volume, suggesting that greater cyst burden contributes to bleeding risk. 1
• Precipitating factors are identifiable in 62% of cases, most commonly urinary tract infections (42% overall, particularly in females at 61%) and strenuous physical activity or sports (20% of males). 5

Prognostic Significance

The timing of hematuria onset carries critical prognostic implications. Gross hematuria occurring before age 30–35 years is associated with significantly worse long-term renal survival in adults with ADPKD. 3, 1, 2

• Patients with recurrent episodes of gross hematuria are at higher risk for more severe renal disease, with those experiencing more than five episodes having higher serum creatinine levels (190 μmol/L versus 120 μmol/L in those without hematuria). 4, 5
• Early-onset gross hematuria should trigger more aggressive blood pressure control and closer monitoring for disease progression, as it signals a higher likelihood of accelerated renal decline. 1
• The cumulative burden of hematuria episodes may have an unfavorable impact on long-term renal function, even though individual episodes are typically self-limited. 5

Clinical Presentation and Duration

• Most episodes of gross hematuria persist for 2–7 days in 56% of affected patients. 5
• Microscopic hematuria may persist even after visible bleeding resolves, typically within one week. 7
• The KDIGO 2025 guideline identifies hematuria as one of several complications of ADPKD, alongside abdominal pain, cyst hemorrhage, nephrolithiasis, and cyst infections. 3

Diagnostic Evaluation

• Renal ultrasonography is the first-line imaging modality to exclude urinary stones, obstructive lesions, or other structural abnormalities in patients presenting with macroscopic hematuria. 3, 1
• When upper urinary tract infection is suspected in conjunction with hematuria, obtain urine and blood cultures and perform renal ultrasound to assess for cyst-related complications. 1, 2
• Document whether hematuria is microscopic or macroscopic, as this distinction has prognostic importance, particularly when gross hematuria occurs before age 30–35. 2

Management Considerations

• In adults experiencing severe cyst hemorrhage, the antifibrinolytic agent tranexamic acid may provide benefit, though its efficacy has not been formally evaluated in pediatric populations. 3, 1
• Standard urinary tract infection treatment protocols are appropriate for ADPKD patients with hematuria; there is no evidence that these patients require altered or prolonged antimicrobial regimens for uncomplicated UTI. 3, 2
• Chronic NSAID use should be avoided due to potential renal adverse effects, particularly in patients with recurrent hematuria. 3

Key Clinical Pitfalls

• Do not dismiss early-onset gross hematuria as benign; it requires risk stratification and intensified monitoring given its association with worse renal outcomes. 1
• Hematuria may be the first manifestation of ADPKD in previously undiagnosed patients, making it an important diagnostic clue. 6
• While most episodes are self-limited, the cumulative effect of recurrent hematuria appears to correlate with progressive renal dysfunction, necessitating longitudinal follow-up. 4, 5