Overview
Autosomal dominant polycystic kidney disease (ADPKD), also known as adult polycystic kidney disease, is the most common hereditary kidney disorder and one of the most frequent life-threatening genetic diseases. It is caused by pathogenic variants in the PKD1 gene (approximately 78% of cases) or the PKD2 gene (approximately 15% of cases), with a smaller proportion linked to other genes such as GANAB and DNAJB11. The disease is characterized by the progressive development and enlargement of fluid-filled cysts in both kidneys, leading to massive kidney enlargement and gradual loss of kidney function over decades. ADPKD is a systemic disorder that affects multiple organ systems beyond the kidneys. Hepatic (liver) cysts are the most common extrarenal manifestation, occurring in the majority of patients. Other important features include intracranial aneurysms (occurring in approximately 5-10% of patients), cardiac valve abnormalities (particularly mitral valve prolapse), pancreatic cysts, seminal vesicle cysts, and abdominal wall hernias. Patients commonly experience hypertension (high blood pressure), which often develops before any decline in kidney function, as well as flank or abdominal pain, hematuria (blood in the urine), urinary tract infections, and kidney stones. Approximately 50% of affected individuals progress to end-stage kidney disease (ESKD) requiring dialysis or kidney transplantation, typically by the fifth or sixth decade of life, though PKD2-related disease tends to have a milder course with later onset of ESKD. Management of ADPKD has historically focused on controlling blood pressure, managing pain, treating urinary tract infections, and providing renal replacement therapy when needed. A significant advance in treatment came with the approval of tolvaptan, a vasopressin V2 receptor antagonist, which has been shown to slow the rate of kidney growth and decline in kidney function in adults at risk of rapidly progressive disease. Patients require regular monitoring of kidney function, liver cysts, and screening for intracranial aneurysms in those with a family history of aneurysm or subarachnoid hemorrhage. Genetic counseling is recommended for affected families.
Also known as:
Clinical phenotype terms— hover any for plain English:
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Variable
Can begin at different ages, from infancy through adulthood
FDA & Trial Timeline
10 eventsLoma Linda University — NA
Jemincare — PHASE1
Jemincare — PHASE1
Richard Fatica — NA
Kenneth Hallows — PHASE2
Vertex Pharmaceuticals Incorporated — PHASE2
AstraZeneca — PHASE1
Jemincare — PHASE1
King's College London
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
1 availableJynarque
JYNARQUE is indicated to slow kidney function decline in adults at risk of rapidly progressing autosomal dominant polycystic kidney disease (ADPKD)
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Autosomal dominant polycystic kidney disease.
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1 articlesCaregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Common questions about Autosomal dominant polycystic kidney disease
What is Autosomal dominant polycystic kidney disease?
Autosomal dominant polycystic kidney disease (ADPKD), also known as adult polycystic kidney disease, is the most common hereditary kidney disorder and one of the most frequent life-threatening genetic diseases. It is caused by pathogenic variants in the PKD1 gene (approximately 78% of cases) or the PKD2 gene (approximately 15% of cases), with a smaller proportion linked to other genes such as GANAB and DNAJB11. The disease is characterized by the progressive development and enlargement of fluid-filled cysts in both kidneys, leading to massive kidney enlargement and gradual loss of kidney funct
How is Autosomal dominant polycystic kidney disease inherited?
Autosomal dominant polycystic kidney disease follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
Are there clinical trials for Autosomal dominant polycystic kidney disease?
Yes — 20 recruiting clinical trials are currently listed for Autosomal dominant polycystic kidney disease on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Autosomal dominant polycystic kidney disease?
25 specialists and care centers treating Autosomal dominant polycystic kidney disease are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.
What treatment and support options exist for Autosomal dominant polycystic kidney disease?
2 patient support programs are currently tracked on UniteRare for Autosomal dominant polycystic kidney disease. See the treatments and support programs sections for copay assistance, eligibility, and contact details.