Autosomal Recessive Polycystic Kidney Disease (ARPKD)

A Comprehensive Guide for Patients and Families

Pediatrics

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Last updated: Mar 24, 2025

What is ARPKD?

Autosomal Recessive Polycystic Kidney Disease (ARPKD) is a rare genetic disorder that causes cysts to develop in the kidneys and liver. The condition primarily affects infants and children.

Key Features

  • Inherited genetic condition
  • Affects approximately 1 in 20,000 children
  • Causes fluid-filled cysts in kidneys and liver
  • Can be diagnosed before birth or in early childhood

Symptoms and Signs

Kidney Symptoms

  • Enlarged kidneys
  • High blood pressure
  • Urinary tract infections
  • Decreased urination
  • Poor kidney function

Liver Symptoms

  • Enlarged liver
  • Portal hypertension
  • Bile duct problems

Diagnosis

  • Prenatal ultrasound
  • Genetic testing
  • Family history evaluation
  • Imaging studies (MRI, CT)

Treatment Options

Managing Kidney Disease

  • Blood pressure medications
  • Dialysis when needed
  • Kidney transplantation
  • Regular monitoring

Managing Liver Complications

  • Medication for portal hypertension
  • Liver transplantation if necessary

Living with ARPKD

Daily Management

  • Regular medical check-ups
  • Dietary modifications
  • Medication compliance
  • Monitoring blood pressure

Long-term Outlook

  • Varies among individuals
  • Early diagnosis improves outcomes
  • Regular medical care essential

Support and Resources

  • Genetic counseling
  • Support groups
  • PKD Foundation
  • Medical specialist team

When to Seek Medical Attention

  • Unexplained fever
  • Severe abdominal pain
  • Changes in urination
  • Worsening blood pressure

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