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)
- Dialysis or Kidney Transplant for advanced PKD
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: Sanchita at +91 9599471244
Prof (Dr) D Mukherjee is an alumnus of the prestigious Armed Forces Medical College, Pune where he did his MBBS & MD (Medicine). Subsequently he went on to do his DM (Nephrology) from PGIMER Chandigarh, which is the foremost training institution for nephrology in India.