Polycystic Kidney Disease (PKD)

• Types:

  • Autosomal Dominant PKD (ADPKD): Most common form, typically diagnosed in adulthood and caused by a mutation in either the PKD1 or PKD2 gene.
  • Autosomal Recessive PKD (ARPKD): Rare and usually diagnosed in infancy or childhood, caused by mutations in the PKHD1 gene.

• Symptoms:

  • Abdominal Pain: Dull, aching pain in the back or sides.
  • Hypertension: High blood pressure due to kidney function impairment.
  • Hematuria: Blood in the urine, often due to cyst rupture or infection.
  • Kidney Stones: Increased risk due to cysts interfering with urine flow.
  • Urinary Tract Infections (UTIs): Recurrent infections due to cysts providing a breeding ground for bacteria.

• Diagnosis:

  • Imaging Tests: Ultrasound, CT scan, or MRI to visualize kidney cysts.
  • Genetic Testing: To identify mutations in PKD genes for definitive diagnosis.
  • Urinalysis and Blood Tests: Assess kidney function and detect abnormalities.

• Treatment and Management:

  • Symptomatic Relief: Pain management with analgesics and hypertension control with medications.
  • Complication Management: Treatment for UTIs, kidney stones, and other associated complications.
  • Dietary Modifications: Low-sodium diet to manage hypertension and reduce fluid retention.

• Complications:

  • Kidney Failure: Progressive loss of kidney function leading to end-stage renal disease (ESRD).
  • Liver Cysts: Occur in some cases of ADPKD, potentially leading to liver enlargement or complications.
  • Brain Aneurysms: Increased risk, particularly in ADPKD patients, requiring monitoring and sometimes intervention.

• Prognosis:

  • ADPKD: Variable progression, with some individuals experiencing rapid decline while others maintain kidney function for decades.
  • ARPKD: More severe and often leads to kidney failure in childhood or early adulthood.

PKD management focuses on monitoring kidney function, managing complications, and providing supportive care to slow disease progression and improve quality of life. Early diagnosis through genetic testing allows for proactive management and intervention.