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Polycystic Kidney Disease (PKD)

Introduction

Polycystic Kidney Disease (PKD) is a genetic disorder characterized by the development of numerous fluid-filled cysts in the kidneys. Over time, these cysts enlarge, leading to kidney dysfunction, high blood pressure, and eventually, end-stage renal disease (ESRD). PKD is primarily classified into two types: Autosomal Dominant PKD (ADPKD) and Autosomal Recessive PKD (ARPKD).

Types of PKD

1. Autosomal Dominant Polycystic Kidney Disease (ADPKD)

  • Most common type, affecting 1 in 400–1,000 live births.
  • Caused by mutations in the PKD1 (85%) or PKD2 (15%) genes.
  • PKD1 mutations lead to a more severe form with early onset of ESRD.
  • Symptoms typically appear between the ages of 30 and 50.

2. Autosomal Recessive Polycystic Kidney Disease (ARPKD)

  • Rare, occurring in 1 in 20,000 births.
  • Caused by mutations in the PKHD1 gene, affecting fibrocystin protein.
  • Severe form with symptoms presenting at birth or in early childhood.
  • Symptoms of PKD

ADPKD Symptoms:

  • Flank or back pain
  • High blood pressure (hypertension)
  • Hematuria (blood in urine)
  • Recurrent urinary tract infections (UTIs)
  • Kidney stones
  • Chronic kidney disease (CKD)

Extra-renal manifestations: Hepatic cysts, intracranial aneurysms, mitral valve prolapse

ARPKD Symptoms:

  • Enlarged kidneys in infants
  • Pulmonary hypoplasia (underdeveloped lungs)
  • Oligohydramnios (low amniotic fluid)
  • High blood pressure
  • Liver fibrosis leading to portal hypertension
  • Growth impairment in children
  • Diagnosis of PKD

Imaging Studies:

Ultrasound (USG): First-line diagnostic tool for detecting cysts.

MRI/CT Scan: Used to assess total kidney volume and cyst burden.

Genetic Testing:

  • Confirms PKD1, PKD2, or PKHD1 mutations.
  • Recommended for individuals with a family history of PKD or ambiguous imaging results.

Blood and Urine Tests:

  • Evaluates kidney function (serum creatinine, BUN levels).
  • Identifies proteinuria or hematuria.
  • Treatment and Management of PKD

1. Supportive Care:

  • Hypertension Control: ACE inhibitors/ARBs (target BP <130/80 mmHg)
  • Pain Management: NSAIDs (short-term), opioids if necessary
  • Lifestyle Modifications: High fluid intake, low-sodium diet, avoiding nephrotoxins

2. Disease-Specific Therapy:

  • Tolvaptan: A V2 receptor antagonist that slows cyst growth and kidney function decline in ADPKD patients.

3. Management of ESRD:

  • Dialysis (Hemodialysis or Peritoneal Dialysis): Used when kidney function declines significantly.
  • Kidney Transplant: Definitive treatment for ESRD patients.
  • Complications of PKD

ADPKD Complications:

  • ESRD requiring dialysis or transplantation
  • Recurrent kidney infections and UTIs
  • Kidney stones
  • Increased risk of intracranial aneurysms (especially in those with a family history of stroke)
  • Hepatic cysts and diverticulosis

ARPKD Complications:

  • High neonatal mortality due to respiratory failure
  • Chronic liver disease and portal hypertension
  • Growth retardation
  • Increased risk of kidney and liver failure in survivors
  • Prognosis of PKD

ADPKD: ESRD typically develops by the 50s in PKD1 mutation carriers and in the 70s for PKD2 mutation carriers.

ARPKD: High neonatal mortality rate, but long-term survival is possible with proper management of kidney and liver complications.

Conclusion

Polycystic Kidney Disease is a serious genetic disorder with progressive complications. Early diagnosis and management can slow disease progression and improve quality of life. Regular monitoring, lifestyle changes, and advanced medical treatments offer hope for patients affected by PKD.

Stay Informed and Take Action!

If you or a loved one has a family history of PKD, consult a nephrologist for screening and early intervention.

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