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Condition

Autosomal Dominant Polycystic Kidney Disease

Symptoms, Doctors, Treatments, Research & More

Condition 101

What is the definition of Autosomal Dominant Polycystic Kidney Disease?

Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder characterized by the growth of numerous cysts in the kidneys. Symptoms vary in severity and age of onset, but usually develop between the ages of 30 and 40. ADPKD is a progressive disease and symptoms tend to get worse over time. The most common symptoms are kidney cysts, pain in the back and the sides and headaches. Other symptoms include liver and pancreatic cysts, urinary tract infections, abnormal heart valves, high blood pressure, kidney stones, and brain aneurysms. ADPKD is most often caused by changes in the PKD1 and PKD2 genes, and less often by changes in the GANAB and DNAJB11 genes. It is inherited in a dominant pattern. Treatment for ADPKD involves managing the symptoms and slowing disease progression. The most serious complication of ADPKD is kidney disease and kidney failure. ADPKD is the most common inherited disorder of the kidneys.

What are the alternative names for Autosomal Dominant Polycystic Kidney Disease?

  • ADPKD
  • Polycystic kidney disease, adult type

What are the causes for Autosomal Dominant Polycystic Kidney Disease?

Autosomal dominant polycystic kidney disease (ADPKD) is caused by genetic changes in the PKD1, PKD2, GANAB and DNAJB11 genes. Genetic changes in PKD1 and PKD2 account for most cases of this condition.   

What are the symptoms for Autosomal Dominant Polycystic Kidney Disease?

The symptoms and severity of autosomal dominant polycystic kidney disease (ADPKD) vary from person to person. The most common symptoms are formation of kidney cysts, pain in the back and the sides and headaches. These symptoms may get worse over time. Eventually the formation of multiple kidney cysts leads to kidney damage and kidney failure.

People with ADPKD may also experience the following complications:
  • High blood pressure
  • Urinary tract infections—specifically in the kidney cysts
  • Blood in the urine (hematuria)
  • Liver and pancreatic cysts
  • Abnormal heart valves
  • Kidney stones
  • Brain aneurysm
Some people with ADPKD have few or no symptoms and may be diagnosed by accident or chance. 

What are the current treatments for Autosomal Dominant Polycystic Kidney Disease?

Treatment for autosomal dominant polycystic kidney disease (ADPKD) is aimed at treating both kidney and non-kidney symptoms. When kidney function starts to decline, treatment is aimed at slowing down the progression to kidney failure. This involves controlling high blood pressure, and making changes in the diet. When individuals with ADPKD develop renal failure, they may need to have dialysis or a kidney transplant.

Specialists involved in the care of someone with ADPKD may include:
  • Radiologist
  • Nephrologist - a doctor who specializes in the care of kidneys
  • Dietician/nutritionist
  • Genetics specialist

What is the outlook (prognosis) for Autosomal Dominant Polycystic Kidney Disease?

The symptoms and severity of autosomal dominant polycystic kidney disease (ADPKD) vary from person to person, therefore it is difficult to predict the long-term outlook. In general, ADPKD is a slowly progressive condition, which means the symptoms tend to get worse over time. About half of people with ADPKD will develop kidney failure in adulthood, requiring kidney dialysis and/or kidney transplant.

Is Autosomal Dominant Polycystic Kidney Disease an inherited disorder?

Autosomal dominant polycystic kidney disease (ADPKD) is inherited as an autosomal dominant trait in families. While many people with ADPKD have a family member with the same condition, ADPKD can also occur in an individual without a family history of ADPKD. This happens as the result of a new genetic change in one of the genes that causes ADPKD.

 

 

Latest Research

Latest Advance
Study
  • Condition: COVID-19 in Kidney Transplant Recipient
  • Journal: BMJ case reports
  • Treatment Used: Immunosuppressive Therapy with Tacrolimus and Low-Dose Prednisolone
  • Number of Patients: 1
  • Published —
This case report describes a 62-year-old female kidney transplant recipient with a mild COVID-19 treated with immunosuppressive therapy with tacrolimus and low-dose prednisolone.
Latest Advance
Study
  • Condition: Patients with Autosomal Dominant Polycystic Kidney Disease on V2 Receptor Antagonists (ADPKD)
  • Journal: International urology and nephrology
  • Treatment Used: Dietary Intervention
  • Number of Patients: 30
  • Published —
This study identified the contribution of sodium and urea excretion rate to daily urine output, and to evaluate the effectiveness of dietary counseling on sodium and urea excretion rates in patients with autosomal dominant polycystic kidney disease (ADPKD).

Clinical Trials

Clinical Trial
Drug
  • Status: Not yet recruiting
  • Study Type: Drug
  • Participants: 20
  • Start Date: December 1, 2020
PENGUIN: PErfusioN, OxyGen ConsUmptIon and ENergetics in ADPKD