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Use of Ultra-high Field MRI in Small Rodent Models of Polycystic Kidney Disease for In Vivo Phenotyping and Drug Monitoring
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The spectrum of polycystic kidney disease in children

Katherine MacRae Dell1

  • 1Division of Pediatric Nephrology, Department of Pediatrics, Rainbow Babies and Children's Hospital and Case Western Reserve University, Cleveland, OH 44106, USA. Katherine.Dell@case.edu

Advances in Chronic Kidney Disease
|September 8, 2011
PubMed

Insights

Autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD) can affect both children and adults, sharing cilia dysfunction. While ADPKD is systemic, ARPKD primarily impacts kidneys and liver, with liver complications increasing in adult survivors.

Area of Science:

  • Nephrology
  • Genetics
  • Pediatric Medicine

Background:

  • Autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD) are inherited kidney disorders.
  • Both ADPKD and ARPKD, previously thought to be age-specific, can manifest in children and adults.
  • Cilia dysfunction is a shared pathophysiological feature in ADPKD and ARPKD.

Purpose of the Study:

  • To delineate the distinct clinical features and genetic underpinnings of ADPKD and ARPKD.
  • To clarify the age of presentation and common symptoms for both ADPKD and ARPKD.
  • To highlight the systemic nature of ADPKD versus the organ-specific involvement in ARPKD.

Main Methods:

  • Review of clinical and genetic data for ADPKD and ARPKD patients.
  • Analysis of disease presentation across different age groups.
  • Comparison of pathophysiological mechanisms, including cilia function.

Main Results:

  • ADPKD presents systemically with kidney and abdominal cysts, and cardiac/vascular abnormalities, with pediatric cases often asymptomatic or presenting with hypertension/hematuria.
  • ARPKD is characterized by polycystic kidneys and congenital hepatic fibrosis, with infantile presentations common but later childhood/adult onset linked to liver complications.
  • Routine screening for renal cysts in asymptomatic children with a family history of ADPKD is generally not advised.

Conclusions:

  • ADPKD and ARPKD exhibit varied presentations across the lifespan, challenging traditional age-based classifications.
  • Understanding the distinct genetic and clinical profiles of ADPKD and ARPKD is crucial for accurate diagnosis and management.
  • Increasing survival in ARPKD patients necessitates greater awareness of potential adult-onset liver complications.

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