Autosomal dominant polycystic kidney disease

About

Heading

Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a genetic disorder in which numerous fluid-filled cysts develop in the kidneys, causing them to enlarge and lose function over time. The cysts gradually replace normal kidney tissue, leading to reduced kidney function and, in severe cases, chronic kidney disease or kidney failure.

ADPKD is inherited in an autosomal dominant pattern, meaning a child has a 50% chance of inheriting the disease if one parent is affected. While it primarily affects the kidneys, cysts can also occur in the liver, pancreas, and other organs. The disease often progresses slowly, with symptoms typically appearing in adulthood.

Is it common?

ADPKD is one of the most common inherited kidney disorders, affecting approximately 1 in 400 to 1,000 individuals worldwide. It accounts for 5–10% of end-stage kidney disease cases requiring dialysis or transplantation. Early detection is important to monitor kidney growth, manage complications, and preserve function.

Can it be cured?

There is no cure for ADPKD. Treatment focuses on slowing cyst growth, managing complications, and preserving kidney function. In advanced cases, dialysis or kidney transplantation may be required. Research into medications that slow disease progression, such as tolvaptan, has shown promising results in slowing kidney growth and decline.

Causes

What causes ADPKD?

ADPKD is caused by mutations in the PKD1 or PKD2 genes, which are responsible for producing proteins essential for normal kidney tubule development. Mutations lead to abnormal cyst formation and growth.

Other contributing factors include:

  • Family history (primary risk factor)
  • Hypertension (high blood pressure can accelerate kidney damage)
  • Lifestyle and cardiovascular risk factors may influence progression

With Insurance

Nephrology

Your copay
Depending on insurance

Without Insurance

*Price Effective 12/1/2025
$169
Initial Visit
$109
Follow Up

Heading 1

Heading 2

Heading 3

Heading 4

Heading 5
Heading 6

Lorem ipsum dolor sit amet, consectetur adipiscing elit, sed do eiusmod tempor incididunt ut labore et dolore magna aliqua. Ut enim ad minim veniam, quis nostrud exercitation ullamco laboris nisi ut aliquip ex ea commodo consequat. Duis aute irure dolor in reprehenderit in voluptate velit esse cillum dolore eu fugiat nulla pariatur.

Block quote

Ordered list

  1. Item 1
  2. Item 2
  3. Item 3

Unordered list

  • Item A
  • Item B
  • Item C

Text link

Bold text

Emphasis

Superscript

Subscript

Symptoms

ADPKD symptoms may not appear until adulthood and can include:

  • High blood pressure (hypertension)
  • Abdominal or flank pain due to kidney enlargement or cyst rupture
  • Hematuria (blood in the urine)
  • Urinary tract infections or kidney stones
  • Kidney enlargement (palpable in some cases)
  • Fatigue and general malaise
  • In advanced disease: chronic kidney disease or kidney failure
  • Occasionally: Some people also develop liver cysts, heart valve abnormalities, or brain aneurysms

Diagnosis

ADPKD is diagnosed through a combination of family history, imaging, and genetic testing:

Imaging

  • Ultrasound — detects kidney cysts; commonly used for screening
  • CT or MRI — more sensitive for cyst detection and monitoring progression

Laboratory Tests

  • Blood tests: serum creatinine, BUN, eGFR to assess kidney function
  • Urine tests: detect proteinuria or hematuria

Genetic Testing

  • Can confirm diagnosis in atypical cases or for family planning purposes

Treatment

Treatment focuses on managing symptoms, slowing progression, and preventing complications:

Lifestyle & Supportive Care

  • Control of blood pressure (often with ACE inhibitors or ARBs)
  • Adequate hydration may help lower vasopressin levels and may slow cyst growth in some patients
  • Healthy diet and regular exercise
  • Avoidance of nephrotoxic medications

Medications

  • Tolvaptan — slows kidney growth and functional decline in selected patients
  • Pain management for cyst-related discomfort
  • Antibiotics for urinary tract infections

Procedures

  • Drainage of large or infected cysts when necessary
  • Dialysis for advanced kidney failure
  • Kidney transplantation in end-stage disease

Regular monitoring of kidney size, function, and complications is essential for long-term management.

References

  • Kidney Disease: Improving Global Outcomes (KDIGO) 2021 Clinical Practice Guideline for ADPKD
  • National Kidney Foundation – Autosomal Dominant Polycystic Kidney Disease Overview
  • Mayo Clinic – ADPKD Symptoms, Diagnosis, and Treatment
  • American Society of Nephrology (ASN) – ADPKD Resources
  • UpToDate – “Autosomal Dominant Polycystic Kidney Disease: Clinical Features and Management”
  • StatPearls – ADPKD Review
  • NIDDK – Polycystic Kidney Disease Overview
  • European Renal Association (ERA-EDTA) – ADPKD Guidelines

Medically reviewed by:

Dr. Javeed Siddiqui, MD, MPH

Dr. Siddiqui is the Chief Medical Officer at TeleMed2U responsible for clinical and technical program development as well as maintaining a thriving telemedicine practice in infectious diseases which includes specialized care of Hepatitis and HIV.

Meet our doctors

TM2U Curve inverted

Affordable – with or without insurance

With Insurance

Nephrology

Your copay
Depending on insurance

Without Insurance

*Price Effective 12/1/2025
$169
Initial Visit
$109
Follow Up

Heading 1

Heading 2

Heading 3

Heading 4

Heading 5
Heading 6

Lorem ipsum dolor sit amet, consectetur adipiscing elit, sed do eiusmod tempor incididunt ut labore et dolore magna aliqua. Ut enim ad minim veniam, quis nostrud exercitation ullamco laboris nisi ut aliquip ex ea commodo consequat. Duis aute irure dolor in reprehenderit in voluptate velit esse cillum dolore eu fugiat nulla pariatur.

Block quote

Ordered list

  1. Item 1
  2. Item 2
  3. Item 3

Unordered list

  • Item A
  • Item B
  • Item C

Text link

Bold text

Emphasis

Superscript

Subscript