Polycystic kidney disease - Diagnosis and treatment

Polycystic kidney disease is a hereditary condition characterized by the presence of many cysts present in both kidneys, it is considered to be the 4th most common cause for end-stage kidney disease worldwide and therefore early treatment of polycystic kidney disease is very important.

  • How is polycystic kidney disease diagnosed?

Diagnosis is usually done by imaging examination (kidney ultrasound) and reveals the presence of multiple cysts in both kidneys. The kidneys are usually swollen. Cysts can also be present in the liver, pancreas, and spleen.

  • What does the treatment entail?
  • Autosomal dominant polycystic kidney disease (ADPKD) leads to renal insufficiency due to the ongoing cyst widening in most patients, usually in the sixth decade of their life. Treatment focuses on slowing the progression of renal failure and treating of its various complications.
  • High blood pressure- Treating high blood pressure can have a double benefit in people with PKD because it can help prevent cardiovascular disease and reduce the chance of suffering from kidney failure.
  • Restriction of protein in diet- There are contradictory findings in several studies as far as the benefits of a low-protein diet in people with ADPKD are concerned. Given the limited resources and results, a restriction of protein intake below 0.8 g / kg body weight per day is not recommended.
  • End-stage kidney disease- ADPKD patients progressing to end-stage renal disease (ESRD) require either hemodialysis or renal transplantation. The long-term outcome after kidney transplantation is usually excellent.
  • In recent years, due to a better understanding of how kidney cysts are created, drugs are being tested to a greater extent. A special reference should be made to genetic diagnosis prior to implantation in parents who experience IVF. This is a technique that allows the control of embryos for mutations that cause ADPKD (since they have been identified by parents suffering from the disease).
  • How should children of ADPKD parents be tested?
  • A parent with ADPKD has a 50% chance of passing the disease on to each of their children. Usually, no systematic examination is recommended during childhood unless the child shows signs or symptoms of the disease. Children may not yet have cysts that are detected by ultrasound. Children with ADPKD family history should be regularly monitored by a nephrologist and monitor their blood pressure as well, perform urinalysis, tested for blood in urine or for nephrolithiasis. The following are the ultrasound criteria used to diagnose ADPKD when it is not diagnosed that the affected parent suffers from PKD1 or PKD2:
  • ● In patients aged 15 to 39 years, at least three cysts (in one or two kidneys)
  • ● In patients 40 to 59 years of age, at least two cysts should be observed in each kidney.
  • ● In patients, over 60 years of age, four or more cysts should be observed in each kidney.

In someone over 40, a negative ultrasound usually means that the person does not suffer from ADPKD.

Mesogeios Dialysis Centers Group Scientific Team

  • Bibliography 
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  • Committee on Bioethics, Committee on Genetics, and American College of Medical Genetics and Genomics Social, Ethical, Legal Issues Committee. Ethical and policy issues in genetic testing and screening of children. Available online. 2013. Accessed 2-16-2017.
  • National Society of Genetic Counselors. Position statement on genetic testing of minors for adult-onset disorders. Available online. 2012. Accessed 2-16-2017.
  • Belz MM, Fick-Brosnahan GM, Hughes RL, Rubinstein D, Chapman AB, Johnson AM, McFann KK, Kaehny WD, Gabow PA. Recurrence of intracranial aneurysms in autosomal-dominant polycystic kidney disease. Kidney Int. 2003;63:1824–30.
  • Ecder T, Schrier RW. Hypertension in autosomal-dominant polycystic kidney disease: early occurrence and unique aspects. J Am Soc Nephrol. 2001;12:194–200

Fick GM, Johnson AM, Strain JD, Kimberling WJ, Kumar S, Manco-Johnson ML, Duley IT, Gabow PA. Characteristics of very early onset autosomal dominant polycystic kidney disease. J Am Soc Nephrol. 1993;3:1863–7