Understanding Autosomal Dominant Polycystic Kidney Disease (ADPKD)

A Comprehensive Guide for Patients Living with Inherited Kidney Disease

Internal Medicine

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Last updated: Mar 24, 2025

What is ADPKD?

Autosomal Dominant Polycystic Kidney Disease is a genetic disorder characterized by the growth of numerous cysts in the kidneys. These fluid-filled sacs can significantly enlarge the kidneys and impair their function over time.

Key Features

  • Inherited condition: Passed from parent to child with a 50% chance of inheritance
  • Progressive disease: Symptoms typically develop between ages 30-40
  • Bilateral involvement: Affects both kidneys

Common Symptoms

  • High blood pressure
  • Back or side pain
  • Blood in urine
  • Kidney stones
  • Urinary tract infections
  • Enlarged abdomen

Diagnosis

Primary Diagnostic Tools

  1. Imaging tests
    • Ultrasound
    • CT scan
    • MRI
  2. Genetic testing
  3. Family history evaluation

Treatment Options

Conservative Management

  • Blood pressure control
  • Healthy lifestyle modifications
  • Pain management
  • Regular monitoring

Medications

  • Tolvaptan (to slow cyst growth)
  • Antihypertensive medications
  • Pain relievers as needed

Advanced Treatment

  • Dialysis (when necessary)
  • Kidney transplantation

Living with ADPKD

Lifestyle Recommendations

  • Maintain healthy blood pressure
  • Stay well-hydrated
  • Limit salt intake
  • Exercise regularly
  • Avoid smoking

Complications

  • Chronic kidney disease
  • Heart valve abnormalities
  • Liver cysts
  • Brain aneurysms
  • Chronic pain

Monitoring and Follow-up

  • Regular blood pressure checks
  • Kidney function tests
  • Periodic imaging
  • Annual medical review

Support and Resources

  • PKD Foundation
  • Genetic counseling
  • Support groups
  • Mental health services

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