Polycystic Kidney Disease (PKD): Symptoms, Diagnosis & Treatment

Polycystic Kidney Disease (PKD): Symptoms, Diagnosis & Treatment

Polycystic Kidney Disease (PKD) is a hereditary condition marked by the growth of numerous fluid-filled cysts in the kidneys, potentially leading to kidney failure if untreated.

Types of PKD

1. Autosomal Dominant PKD (ADPKD)

  • Most common form, affecting 1 in 400–1,000 live births.
  • Mutations in PKD1 (85%) or PKD2 (15%).
  • Symptoms usually start between ages 30–50.

2. Autosomal Recessive PKD (ARPKD)

  • Rare, affecting 1 in 20,000 children.
  • Caused by PKHD1 gene mutation.
  • Typically presents at birth or infancy.

Symptoms of PKD

ADPKD Symptoms

  • Flank pain
  • High blood pressure
  • Blood in urine
  • Recurrent UTIs
  • Kidney stones
  • Progressive kidney failure

ARPKD Symptoms

  • Enlarged kidneys
  • Respiratory issues at birth
  • Low amniotic fluid
  • Liver problems

Diagnosis of PKD

  • Ultrasound: First-line imaging to detect cysts
  • MRI/CT Scan: Assess kidney volume and complications
  • Genetic Testing: Detect mutations in PKD1, PKD2, PKHD1
  • Lab Tests: Creatinine, BUN, proteinuria analysis

PKD Treatment Options

Supportive Management

  • Blood pressure control with ACE inhibitors or ARBs
  • Pain management with NSAIDs or opioids
  • Low-sodium diet and high fluid intake

Tolvaptan Therapy

  • Approved for ADPKD
  • Slows cyst growth and preserves kidney function

End-Stage Kidney Disease (ESRD)

PKD Complications

  • Kidney failure
  • Intracranial aneurysms
  • Liver and pancreatic cysts
  • Diverticulosis

Prognosis

ADPKD: ESRD typically by age 50s–70s depending on gene type.

ARPKD: High infant mortality; survivors need ongoing management.

Early Detection Saves Kidneys

With timely diagnosis and proactive treatment, the progression of PKD can be slowed. If you have a family history of kidney disease or show symptoms, seek nephrology care early.

Contact Our Nephrology Expert

Email: dirnephro@gmail.com

For Appointments Contact: Coordinator at +91 9599471244

Polycystic Kidney Disease (PKD): Symptoms, Causes & Treatment | Dr. Debabrata Mukherjee

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