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Updated: Jun 10, 2025

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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Intrafamilial Disease Heterogeneity in Primary Hyperoxaluria Type 1

Lisa J Deesker1, Hazal A Karacoban1, Elisabeth L Metry1

  • 1Department of Pediatric Nephrology, Emma Children's Hospital, University of Amsterdam, Amsterdam, the Netherlands.

Kidney International Reports
|October 21, 2024
PubMed
Summary

Primary hyperoxaluria type 1 (PH1) shows significant intrafamilial variation. Siblings of PH1 patients often have better kidney survival and clinical outcomes than index cases, highlighting the importance of early family screening.

Keywords:
PH1discordancefamiliesintrafamilial heterogeneitykidney failureprimary hyperoxaluria

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