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GeneticICD-10: Q61.3Affects approximately 1 in 400-1,000 people; about 600,000 people in the U.S.

Polycystic Kidney Disease

Polycystic kidney disease (PKD) is an inherited disorder in which clusters of fluid-filled cysts develop within the kidneys, gradually enlarging them and impairing their function over time. Autosomal dominant PKD (ADPKD) is the most common form, typically manifesting in adulthood, while autosomal recessive PKD (ARPKD) is rarer and presents in infancy or childhood. PKD is one of the most common genetic diseases and is the fourth leading cause of kidney failure worldwide.

Symptoms

High blood pressure (often the earliest sign)
Back or side pain related to enlarged kidneys or cyst rupture
Blood in the urine (hematuria)
Frequent kidney infections or urinary tract infections
Abdominal fullness or distension due to enlarged kidneys
Kidney stones
Headaches (may be associated with brain aneurysms in some patients)

Causes

  • Mutations in the PKD1 gene (approximately 85% of ADPKD cases) or PKD2 gene
  • Mutations in the PKHD1 gene cause autosomal recessive PKD
  • Inherited in an autosomal dominant pattern (one affected parent passes the gene)
  • Spontaneous (de novo) mutations in approximately 10% of cases with no family history

Risk Factors

  • Family history of polycystic kidney disease (50% chance if one parent is affected)
  • Male sex (associated with earlier onset of kidney failure in ADPKD)
  • Hypertension accelerating kidney function decline
  • History of urinary tract infections or kidney stones
  • African American descent (may have faster disease progression)

Diagnosis

  • Renal ultrasound showing multiple cysts in both kidneys (primary diagnostic tool)
  • CT scan or MRI for more detailed kidney imaging and cyst measurement
  • Genetic testing for PKD1 and PKD2 mutations, especially in ambiguous cases or for family planning
  • Blood tests for kidney function (serum creatinine, BUN, GFR)
  • Urinalysis checking for blood and protein

Treatment

  • Tolvaptan (Jynarque) to slow cyst growth and kidney function decline in ADPKD
  • Blood pressure control with ACE inhibitors or ARBs as first-line therapy
  • Pain management for cyst-related pain (avoiding nephrotoxic NSAIDs when possible)
  • Antibiotics for cyst infections or urinary tract infections
  • Dialysis when kidney function declines to end-stage renal disease
  • Kidney transplantation as the definitive treatment for kidney failure

Prevention

  • No prevention for the genetic disease itself, but progression can be slowed
  • Maintain strict blood pressure control (target <130/80 mmHg)
  • Stay well-hydrated to potentially slow cyst growth
  • Avoid smoking and limit caffeine intake
  • Genetic counseling for family planning if you have a family history of PKD

When to See a Doctor

  • You have a family history of PKD and want screening
  • You develop blood in your urine, persistent flank pain, or frequent kidney infections
  • Your blood pressure is consistently elevated

Frequently Asked Questions

Related Conditions

High Blood Pressure

Cardiovascular

Type 2 Diabetes

Endocrine

Anemia

Metabolic

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Medical Disclaimer: This content is for educational and informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment. Always consult a qualified healthcare provider.

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