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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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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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Boy with autosomal recessive polycystic kidney and autosomal dominant polycystic liver disease

Andrea Zingg-Schenk1, Jürg Caduff, Silvia Azzarello-Burri

  • 1Children's Hospital Lucerne, 6000, Lucerne, Switzerland.

Pediatric Nephrology (Berlin, Germany)
|March 15, 2012
PubMed

Insights

Autosomal recessive polycystic kidney disease (ARPKD) and autosomal dominant polycystic liver disease (PCLD) can co-occur. This case highlights a child with both conditions who experienced a benign clinical outcome, emphasizing the need for long-term monitoring.

Area of Science:

  • Genetics and rare diseases
  • Pediatric nephrology and hepatology
  • Molecular diagnostics

Background:

  • Autosomal recessive polycystic kidney disease (ARPKD) exhibits significant phenotypic variability.
  • Autosomal dominant polycystic liver disease (PCLD) typically does not manifest in childhood.

Observation:

  • A pediatric case presented with co-occurring ARPKD and PCLD.
  • The patient exhibited symptoms of pyelonephritis and urosepsis at 16 days old.
  • Genetic analysis identified compound heterozygous mutations in PKHD1 (ARPKD) and a missense mutation in PRKCSH (PCLD).

Findings:

  • The patient demonstrated enlarged kidneys and hyperechogenic renal medulla and liver parenchyma.
  • Genetic testing confirmed compound heterozygous mutations in PKHD1 and a PRKCSH mutation.
  • At 13 years of age, the patient maintained normal renal and liver function without portal hypertension.

Implications:

  • Co-occurrence of ARPKD and PCLD can present with a benign clinical course in childhood.
  • The phenotypic variability of ARPKD is further illustrated in this case.
  • Long-term follow-up is crucial for patients with co-existing ARPKD and PCLD.
Abstract

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