3

Symptoms and Diagnosis of Polycystic Kidney Disease

Exon Publications, Brisbane, Australia

ABSTRACT

Polycystic kidney disease (PKD) is a genetic condition that leads to the development of numerous cysts in the kidneys, causing various symptoms and complications. This chapter examines the common symptoms of PKD and the diagnostic methods used to identify the disease. First, it provides an overview of how symptoms like pain, high blood pressure, and kidney function decline manifest and progress, and then discusses diagnostic tools like imaging and genetic tests.

Keywords: Chronic kidney disease symptoms in PKD; Diagnostic imaging techniques for PKD; Early detection strategies for Polycystic Kidney Disease; Genetic screening for Polycystic Kidney Disease; High blood pressure management in PKD; Kidney cyst growth in Polycystic Kidney Disease; Monitoring kidney function in PKD patients; PKD family history and screening; Polycystic Kidney Disease diagnosis methods; Symptoms progression in Polycystic Kidney Disease

Correspondence: Exon Publications, Brisbane, Australia. books@exonpublications.com

Cite as: Symptoms and Diagnosis of Polycystic Kidney Disease. In: Polycystic Kidney Disease: Public Education. Brisbane (AU): Exon Publications; 2024. Online first 2024 May 28. ISBN: 978-0-6458663-8-4.

Doi: https://doi.org/10.36255/symptoms-diagnosis-polycystic-kidney-disease

Copyright: Exon Publications.

Note to the Reader: This article is part of our public education series, based on our medical book Polycystic Kidney Disease.

License: This article is published under Attribution-NonCommercial-NoDerivatives license (BY-NC-ND 4.0) https://creativecommons.org/licenses/by-nc-nd/4.0/

INTRODUCTION

Polycystic kidney disease (PKD) is a hereditary disorder that affects the kidneys and other organs, leading to significant health challenges. Early identification and management of PKD can prevent severe complications and improve patient outcomes. This chapter focuses on two critical areas: the common symptoms and their progression, and the diagnostic methods for detecting PKD. By understanding how PKD symptoms evolve, the tools available for diagnosis, and the importance of early intervention, individuals and families can better navigate the complexities of this condition (112).

COMMON SYMPTOMS

PKD is a genetic disorder that causes multiple cysts to form in the kidneys. These cysts are fluid-filled sacs that can grow and multiply over time, leading to various symptoms. Understanding these symptoms and how they progress is crucial for managing the disease effectively.

Pain

One of the most common symptoms of PKD is pain. This pain often occurs in the back or sides and can be caused by the growing cysts pressing against the surrounding kidney tissue and other organs. The pain can be mild or severe, and it may come and go or be constant. In some cases, the pain is caused by a cyst bursting or bleeding, which can be particularly painful and may require medical attention.

High blood pressure

High blood pressure, or hypertension, is another common symptom of PKD. The kidneys play a vital role in regulating blood pressure by balancing fluid and salt levels in the body. As the cysts grow and damage the kidney tissue, the kidneys' ability to regulate blood pressure is impaired. High blood pressure is often one of the first signs of PKD and can lead to further kidney damage if not managed properly.

Blood in the urine and urinary tract infections

Blood in the urine, or hematuria, is also a frequent symptom. This can occur when cysts burst and bleed into the urinary tract. Hematuria can be alarming, but it is important to seek medical advice to determine the cause and appropriate treatment. Recurrent urinary tract infections (UTIs) are another issue for people with PKD. The cysts can create an environment where bacteria can grow, leading to infections that can cause pain, fever, and discomfort.

Kidney stones

Kidney stones are more common in people with PKD. These stones form when minerals in the urine crystallize and can cause severe pain, particularly if they obstruct the urinary tract. Passing a kidney stone can be extremely painful and may require medical treatment.

Kidney function

As PKD progresses, kidney function declines. This can lead to chronic kidney disease (CKD), where the kidneys gradually lose their ability to filter waste and excess fluids from the blood. Symptoms of CKD include fatigue, swelling in the legs and feet (edema), nausea, and difficulty concentrating. These symptoms occur because waste products build up in the blood, and the body retains excess fluid.

Eventually, PKD can lead to end-stage renal disease (ESRD), where the kidneys can no longer function effectively on their own. At this stage, patients require dialysis or a kidney transplant to survive. Dialysis is a treatment that uses a machine to filter waste and excess fluids from the blood, essentially taking over the function of the kidneys. A kidney transplant involves surgically placing a healthy kidney from a donor into the patient’s body, which can restore normal kidney function.

Other health issues

Beyond the kidneys, PKD can cause other health issues. Many people with PKD develop cysts in the liver. While liver cysts usually do not cause liver failure, they can become quite large and uncomfortable. Additionally, PKD can lead to problems with blood vessels, including an increased risk of aneurysms, particularly in the brain. An aneurysm is a weakened area in the wall of a blood vessel that can burst, causing serious complications.

Heart issues are also more common in people with PKD. These can include problems with the heart valves, such as mitral valve prolapse, where the valve between the heart’s left atrium and left ventricle does not close properly. This can cause blood to flow backward and may lead to symptoms like palpitations, chest pain, and shortness of breath.

DIAGNOSTIC METHODS

Diagnosing PKD is crucial for managing the disease and preventing complications. There are several methods doctors use to diagnose PKD, each aiming to identify the presence of cysts, assess kidney function, and detect any related complications. Understanding these diagnostic methods can help patients know what to expect and the purpose behind each test.

Imaging tests

One of the primary methods for diagnosing PKD is imaging tests. These tests allow doctors to visualize the kidneys and look for cysts. Ultrasound is the most commonly used imaging test for PKD. It uses sound waves to create pictures of the kidneys, showing the size and number of cysts. Ultrasound is a non-invasive and painless procedure that can provide clear images of the kidneys, helping doctors to diagnose PKD even before symptoms appear.

In some cases, more detailed imaging tests may be needed. A CT scan, or computed tomography scan, provides a more detailed view of the kidneys than an ultrasound. It uses X-rays to take cross-sectional images of the body, allowing doctors to see the size, shape, and number of cysts in greater detail. A CT scan can also help detect complications such as kidney stones or tumors that might not be visible on an ultrasound.

MRI, or magnetic resonance imaging, is another advanced imaging technique used to diagnose PKD. MRI uses strong magnets and radio waves to create detailed images of the kidneys and other organs. It is particularly useful for assessing the size and growth of cysts over time. MRI is non-invasive and does not use radiation, making it a safe option for repeated imaging to monitor the progression of the disease.

Blood and urine tests

In addition to imaging tests, doctors often use blood and urine tests to diagnose PKD and assess kidney function. Blood tests can measure levels of creatinine and blood urea nitrogen, which are waste products filtered by the kidneys. Elevated levels of these substances can indicate impaired kidney function. Blood tests can also check for anemia, which is common in people with chronic kidney disease.

Urine tests are also important in diagnosing PKD. They can detect blood or protein in the urine, which can be signs of kidney damage. A 24-hour urine collection test may be used to measure how much urine the kidneys produce and to check for other abnormalities in kidney function.

Genetic testing

Genetic testing is another diagnostic tool for PKD. Since PKD is a genetic disorder, identifying mutations in the PKD1, PKD2, or PKHD1 genes can confirm the diagnosis. Genetic testing involves analyzing a blood or saliva sample to look for these mutations. This type of testing is particularly useful for individuals with a family history of PKD who want to know if they have inherited the disease. Genetic testing can also help determine the specific type of PKD and predict the severity of the disease.

Prenatal testing

Prenatal testing can diagnose PKD before a baby is born. If there is a family history of PKD, expectant mothers may choose to undergo prenatal testing to see if their baby has inherited the disease. Tests such as amniocentesis or chorionic villus sampling (CVS) can analyze the baby's DNA for PKD mutations. These tests carry some risks, so the decision to undergo prenatal testing should be made with careful consideration and guidance from a genetic counselor.

Kidney biopsy

Although rare, a kidney biopsy may be performed to diagnose PKD, especially if there is uncertainty about the diagnosis. During a biopsy, a small sample of kidney tissue is removed and examined under a microscope. This can help identify the presence of cysts and any other abnormalities in the kidney tissue.

CONCLUSION

PKD significantly impacts the kidneys and other parts of the body, but early detection and proper management can mitigate its effects. Recognizing common symptoms such as pain, high blood pressure, and kidney function decline is vital for timely intervention. Diagnostic methods like ultrasounds, CT scans, MRIs, and genetic tests play a crucial role in confirming the presence of PKD and assessing its severity.

NOTICE TO THE USER

This article is part of our public education series. It was written by professional medical writers for the public using simple terms based on our medical book Polycystic Kidney Disease and articles indexed in PubMed, and further peer-reviewed for factual accuracy by independent experts. It is intended solely for informational purposes and is not to be considered medical advice. The views and opinions expressed in this article are believed to be accurate at the time of publication, but the publisher, editors, or authors cannot be held responsible or liable for any errors, omissions, or consequences arising from the use of the information contained in this article. The publisher makes no warranties, implicit or explicit, regarding the contents of this article or its use.

COPYRIGHT

The copyright of this article belongs to Exon Publications (Publisher). The electronic version is published under Creative Commons Attribution-NonCommercial-NoDerivs 4.0 (BY-NC-ND 4.0) https://creativecommons.org/licenses/by-nc-nd/4.0/. What does this mean? BY: Credit must be given to the Publisher as the original source. NC: Only noncommercial uses of the work are permitted. ND: No derivatives or adaptations of the work are permitted. For commercial purposes, please contact the Publisher.

REFERENCES

  1. Li X, Editor. Polycystic Kidney Disease. Brisbane (AU): Exon Publications, 2015. https://doi.org/10.15586/codon.pkd.2015
  2. Torres VE, Harris PC, Pirson Y. Autosomal dominant polycystic kidney disease. Lancet. 2007;369(9569):1287-1301. https://doi.org/10.1016/S0140-6736(07)60601-1
  3. Chapman AB, Devuyst O, Eckardt KU, Gansevoort RT, Harris T, Horie S, et al. Autosomal-dominant polycystic kidney disease (ADPKD): executive summary from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference. Kidney Int. 2015;88(1):17-27.https://doi.org/10.1038/ki.2015.59
  4. Pei Y, Watnick T. Diagnosis and screening of autosomal dominant polycystic kidney disease. Adv Chronic Kidney Dis. 2010;17(2):140-152. https://doi.org/10.1053/j.ackd.2009.12.001
  5. Harris PC, Torres VE. Genetic mechanisms and signaling pathways in autosomal dominant polycystic kidney disease. J Clin Invest. 2014;124(6):2315-2324. https://doi.org/10.1172/JCI72272
  6. . Igarashi P, Somlo S. Genetics and pathogenesis of polycystic kidney disease. J Am Soc Nephrol. 2002;13(9):2384-2398. https://doi.org/10.1097/01.ASN.0000028643.17901.42
  7. Wilson PD. Polycystic kidney disease. N Engl J Med. 2004;350(2):151-164. https://doi.org/10.1056/NEJMra022161
  8. Gabow PA. Autosomal dominant polycystic kidney disease. N Engl J Med. 1993;329(5):332-342. https://doi.org/10.1056/NEJM199307293290508
  9. Grantham JJ. Clinical practice. Autosomal dominant polycystic kidney disease. N Engl J Med. 2008;359(14):1477-1485. https://doi.org/10.1056/NEJMcp0804458
  10. Cornec-Le Gall E, Alam A, Perrone RD. Autosomal dominant polycystic kidney disease. Lancet. 2019;393(10174):919-935. https://doi.org/10.1016/S0140-6736(18)32782-X
  11. Polycystic Kidney Disease: An Overview. In: Polycystic Kidney Disease: Public Education. Brisbane (AU): Exon Publications. Online first 2024 May 26. https://doi.org/10.36255/polycystic-kidney-disease-overview
  12. Genetics, Cyst Formation, and Inheritance Patterns of Polycystic Kidney Disease. In: Polycystic Kidney Disease: Public Education. Brisbane (AU): Exon Publications. Online first 2024 May 26. https://doi.org/10.36255/polycystic-kidney-disease-genetics-cyst-formation-inheritance