Polycystic Kidney Disease (PKD): Understanding the Genetic Disorder

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Polycystic Kidney Disease (PKD): Understanding the Genetic Disorder

  • July 15, 2023


Polycystic Kidney Disease (PKD) is a hereditary disorder characterized by the development of multiple fluid-filled cysts in the kidneys. The cysts can enlarge over time causing progressive kidney damage and consequent kidney failure.

This article aims at providing a comprehensive understanding of the types, causes, symptoms, diagnosis, and management of PKD. So, let’s take a look at the below:



PKD can be categorized into two primary types:

  • Autosomal Dominant PKD (ADPKD)- It is the most common form of PKD that occurs in adulthood.
  • Autosomal Recessive PKD (ARPKD)- It is the form of PKD that manifests in infancy or childhood.



The causes of both the types of PKD are mentioned below:

  • Autosomal Dominant PKD (ADPKD)- It is caused by the mutations in the PKD1 or PKD2 genes.
  • Autosomal Recessive PKD (ARPKD)- It is caused by the mutations in the PKHD1 gene.



The symptoms of PKD vary from:

  • Abdominal or flank pain
  • High blood pressure
  • Hematuria (blood in the urine)
  • Frequent urinary tract infections
  • Kidney stones
  • Enlarged abdomen due to multiple cysts
  • Decreased kidney function leading to chronic kidney disease (CKD)



The diagnosis process of PKD involves the following steps:

  • Medical History Analysis- The medical history of the patient is assessed. The family history for patterns of inheritance of PKD is also assessed.
  • Physical examination- The physical examination is done to assess signs of PKD.
  • Tests- Various imaging tests like ultrasound, CT scan or MRI are conducted to visualize the kidney cysts.
  • Genetic testing- Genetic testing is done to identify specific gene mutations associated with PKD.


5.Management & Treatment of PKD:

The treatment of PKD involves:

  • Blood pressure is controlled through medication and modifications in lifestyle.
  • Pain management involves prescribing appropriate medications.
  • Diet adjustments are made which include a well-balanced diet.
  • Weight maintenance is achieved through diet and regular exercise.
  • Kidney function and blood pressure are regularly monitored using imaging studies.
  • Prompt treatment is given for complications of infections or kidney stones.
  • Dialysis or kidney transplantation is done for advanced PKD cases which are leading to end-stage renal disease (ESRD).


Patients with Polycystic Kidney Disease (PKD) need proper understanding of the disease’s causes, symptoms and diagnosis for better navigation through the challenges associated with this disease. An early detection, right management and genetic counseling can help individuals with PKD live a fulfilling life while managing their kidney and overall health.

Aastha Hospital is the leading kidney specialist in Ludhiana which has years of experience in handling PKD cases. If you are experiencing any signs of PKD, visit Aastha Hospital and start your treatment timely.