Related Experiment Video

Updated: Jun 28, 2026

Use of Ultra-high Field MRI in Small Rodent Models of Polycystic Kidney Disease for In Vivo Phenotyping and Drug Monitoring
07:35

Use of Ultra-high Field MRI in Small Rodent Models of Polycystic Kidney Disease for In Vivo Phenotyping and Drug Monitoring

Published on: June 23, 2015

Polycystic kidney and hepatic disease with mental retardation and hand anomalies in three siblings

Tomás Seeman1, Marcela Malíková, Kveta Bláhová

  • 1Department of Pediatrics, Second Medical School, University Hospital Motol, Charles University Prague, V Uvalu 84, 15006, Prague, Czech Republic. tomas.seeman@lfmotol.cuni.cz

Pediatric Nephrology (Berlin, Germany)
|November 18, 2008
PubMed

Insights

This study describes a rare genetic syndrome in a family with congenital polycystic kidneys, hepatic fibrosis, and developmental delays. The findings highlight the etiological heterogeneity of such conditions.

Area of Science:

  • Genetics
  • Pediatrics
  • Nephrology

Background:

  • Congenital polycystic kidney disease (CPKD) with hepatic fibrosis presents a diagnostic challenge.
  • Autosomal recessive inheritance is suspected in syndromic forms of CPKD.

Observation:

  • A family presented with three children exhibiting CPKD, hepatic fibrosis, mental retardation, hand anomalies, and dysmorphic features.
  • All affected children developed chronic renal failure.

Findings:

  • Haplotype analysis excluded linkage to the known autosomal recessive polycystic kidney disease locus.
  • The inheritance pattern and clinical features suggest a distinct autosomal recessive syndrome.
  • This syndrome shares similarities with a previously reported entity by Labrune et al.

Implications:

  • This report contributes to understanding the etiological heterogeneity of polycystic kidney and liver disease.
  • The syndrome should be considered in the differential diagnosis of early-onset polycystic kidneys.
  • Mental retardation and hand anomalies are key diagnostic indicators for this specific syndrome.

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