Polycystic kidney disease

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Polycystic kidney disease

Polycystic kidney disease is a genetic (inherited) condition. Fluid-filled sacs called cysts grow in the kidneys, causing the kidneys to enlarge and sometimes lose function over time.

The most common type of polycystic kidney disease (PKD) is autosomal dominant polycystic kidney disease (ADPKD). Common symptoms of ADPKD include pain in the sides or back, high blood pressure, and blood in the urine.

As it gets worse, ADPKD may lead to kidney stones, kidney failure, and cysts in other organs. In a small number of patients, it can lead to an aneurysm (bulging blood vessel) in the brain.

ADPKD can be diagnosed through imaging scans of the kidneys, a review of the patient’s family medical history, and genetic testing. Symptoms usually appear between the ages of 30 and 50, though they may begin earlier or later. In most cases, it isn’t diagnosed until symptoms appear.

There is no cure for ADPKD. Treatment focuses on slowing the progression of the disease through certain types of therapy and supportive care, including medications and lifestyle changes. In advanced stages, dialysis or a kidney transplant may be needed.

Why choose UAB Medicine

From early diagnosis to advanced disease management, our board-certified nephrologists have extensive expertise in treating PKD. They are committed to helping patients through every step of their care journey, including those who’ve been diagnosed and treated in the past but now need a higher level of care.

The Polycystic Kidney Disease Clinic at The Kirklin Clinic at UAB Hospital is designated as a Center of Excellence by the Polycystic Kidney Disease Foundation. This reflects the comprehensive, multi-specialty care we provide to patients and families affected by PKD.

UAB Medicine has been nationally recognized for excellence in kidney care and transplantation. As an academic medical center and a leader in kidney disease research, we offer access to advanced diagnostic tests, clinical trials, and promising new therapies that may not be widely available at other hospitals.

To make an appointment with the UAB Polycystic Kidney Disease Clinic, please call 205-934-9509. Learn about clinical research trials that may benefit you.

Clinical trial at UAB

A phase 2a, open label, single-arm study to evaluate the efficacy, safety and pharmacokinetics of VX-407 in subjects with autosomal dominant PKD who have a subset of PKD1 gene variants

Principal Investigator: Michal Mrug, M.D.

The purpose of the study is to evaluate the effect of VX-407 on height-adjusted total kidney volume (htTKV), safety, tolerability, and the pharmacokinetics (PK) of VX-407. For more information about this study, please email pkdresearch@uabmc.edu.