Primary hyperoxaluria: No longer stuck between a rock and a hard place?

Research output: PhD ThesisPhd-Thesis - Research and graduation internal


The primary hyperoxalurias (PHs) are a group of inherited disorders of glyoxylate metabolism characterized by the overproduction of a metabolic waste product, oxalate, causing nephrocalcinosis, recurrent stone formation and ultimately kidney failure. Although PH is rare, the burden of the disease for individual patients and their families is enormous. The disease course is highly unpredictable, causing a lot of uncertainty throughout life. Until very recently, therapeutic options were limited and liver transplantation was the only curative treatment available. Novel therapeutic modalities based on RNA interference (RNAi) have emerged and could potentially change treatment options and improve overall prognosis of patients with PH in a dramatic way. The studies described in this thesis focus on the pathophysiology, clinical characteristics, disease course and optimal therapeutic strategies for patients with PH.
Original languageEnglish
QualificationDoctor of Philosophy
Awarding Institution
  • University of Amsterdam
  • Groothoff, Jaap, Supervisor
  • Wanders, Ronaldus, Supervisor
  • Oosterveld, Michiel, Co-supervisor
Award date3 Jun 2022
Print ISBNs9789463616966
Publication statusPublished - 2022

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