Symptoms of Polycystic Kidney Disease
Most patients with ADPKD remain asymptomatic for decades, but when symptoms occur, they include pain (back/abdominal), hematuria, urinary tract infections, hypertension, and symptoms of kidney enlargement—with significant sex differences in presentation. 1
Common Symptomatic Presentations
Pain
- Back and abdominal pain occur in 10-20% of children and approximately 50% of adults with ADPKD, with 20% experiencing pain "often, usually, or always" 2, 3
- Pain correlates with kidney size in patients with very large kidneys (>1,000 mL/m height-adjusted total kidney volume), but not in early disease with preserved kidney function 3
- Pain becomes more severe and impacts daily life as kidney function declines, particularly when eGFR falls to 20-44 mL/min/1.73m² 3
Hematuria
- Macroscopic hematuria occurs in 5-15% of children and is a common presenting symptom in adults 2
- Hematuria correlates with kidney size measured by radiography 4
Urinary Tract Infections
- UTIs are more common in ADPKD, affecting 15-25% of children and showing marked sex differences in adults 2
- In adult females with ADPKD, urinary tract infections are the most frequent clinical manifestation at 69%, compared to only 19% in males 4
- Cyst infections require prolonged antibiotic therapy with lipid-soluble agents for adequate penetration 2
Hypertension
- Hypertension is present in 61% of females and 42% of males with ADPKD 4
- Hypertension correlates with kidney size and is a treatable manifestation requiring monitoring, preferably by ambulatory blood pressure monitoring 1, 2
Age-Related Symptom Patterns
Asymptomatic Period
- In patients younger than 30 years, 66% of males but only 11% of females remain asymptomatic 4
- Overall, 36% of males and only 7% of females with ADPKD are asymptomatic, normotensive, and without previous problems at diagnosis 4
- Substantial disease burden with massively enlarged kidneys or decreased GFR usually does not occur until adulthood 1
Progressive Symptoms
- Symptoms relating to abdominal fullness affect approximately 20% of patients and are significantly related to lower kidney function in women 3
- Approximately 3% of children have very-early-onset or unusually rapid progressive disease 1
Additional Symptomatic Manifestations in Children
Few children suffer from symptomatic disease manifestations, but when present they include: 1
- Pain
- Enuresis (bedwetting)
- Hematuria
- Urinary tract infections
- Cyst infections
Kidney Failure Progression
- End-stage renal failure is present in 5% of patients younger than 40 years, 33% of patients aged 40-49 years, and 47% of patients aged 50 years or older 4
- The timing varies by genetic mutation: PKD1 truncating variants lead to kidney failure in the 50s, while PKD2 mutations result in kidney failure in the 70s 1, 5
Important Clinical Pitfall
Physical examination is unreliable for estimating kidney size in most patients, particularly in early stages of disease 4. Imaging with ultrasonography or MRI is required for accurate assessment 1, 5.