Penn Medicine's Polycystic Kidney Disease (PKD) Clinic provides complete care, diagnosis and treatment for autosomal dominant polycystic kidney disease (ADPKD). ADPKD is a complex genetic condition affecting multiple body systems, with renal (kidney) manifestations including hypertension, renal pain, kidney stones, varying degrees of renal insufficiency and end stage renal disease requiring dialysis or kidney transplantation.
ADPKD is the most common of all the hereditary cystic kidney diseases. It affects approximately 600,000 people in the U.S. alone and occurs in approximately one in every 400 to 1,000 live births. ADPKD is characterized by progressive cyst development and bilaterally enlarged kidneys with multiple cysts. There are two genetic mutations, PKD1 and PKD2. Individuals with PKD1, the more progressive form, have an abnormality on chromosome 16, which is responsible for approximately 85 percent of ADPKD cases. Approximately 50 percent of individuals with ADPKD develop end stage renal disease by the age of 60.
The diagnosis of ADPKD is established primarily by imaging studies of the kidneys. Ultrasound is the preferred imaging modality, but can miss small or scattered cysts. MRI or contrast-enhanced (using an x-ray dye) CT scan can better detect a small number of cysts. Genetic testing may be done to confirm an ADPKD diagnosis.
Typical findings in a patient with ADPKD are:
- Large kidneys
- Extensive cysts scattered throughout both kidneys
- Cysts in other organs, such as the pancreas, liver, and spleen
- Extrarenal abnormalities such as intracranial aneurysms
ADPKD Treatment and Management
Typical treatment for ADPKD includes management of symptoms. Penn nephrologists treat ADPKD patients in collaboration with multiple specialists throughout Penn Medicine.
Symptoms for ADPKD include:
- Hypertension - Treatment may include medications such as angiotensin (ACE) inhibitors or angiotensin II (ARB) receptor blockers as well as diet modification.
- Kidney pain - Conservative treatment of pain includes non-opioid agents, tricyclic antidepressants and narcotic analgesics. More aggressive treatments include cyst decompression with cyst aspiration and sclerosis, laparoscopic or surgical cyst fenestration.
- Cyst infections - Treatment involves the use of antibiotics.
- Kidney stones
- Cerebral aneurysms
- Cardiac disease/Aortic root dilation
Patients with ADPKD should avoid long-term exposure to nephrotoxic agents or medications in order to manage their condition including:
- Caffeine - which may promote renal cyst growth
- Estrogen - which may be contraindicated in those with associated severe polycystic liver disease
Our Approach to Care
We collaborate with experienced physicians from multiple specialties including:
Our services include:
- One-on-one consultative services and expert diagnosis.
- Individualized treatment plans tailored to the unique needs of every patient.
- The latest advancements in treatment and management of symptoms for ADPKD.
- Participation in clinical trials- patients are provided the opportunity to participate in upcoming PKD clinical trials and are given information on the most recent drug trials and available therapies for ADPKD.
- Genetic counseling- ADPKD is inherited in an autosomal dominant manner. About 95 percent of individuals with ADPKD have an affected parent and about 5 percent have a de novo mutation. Each child of an affected individual has a 50% chance of inheriting the mutation. Prenatal testing for at-risk pregnancies are possible if the family-specific mutation is known, or if linkage has been established in the family.