On 3 June, Sander Garrelfs will receive his PhD at the University of Amsterdam for his research into primary hyperoxaluria (PH). The studies described in his thesis focus on the underlying pathophysiology, clinical features, disease course and optimal treatment for patients with PH.
PH is a group of genetic disorders in which the enzyme AGT does not function properly in the liver and glyoxylate is converted to oxalic acid. The overproduction of oxalic acid leads to kidney stones, nephrocalcinosis and ultimately renal failure and systemic oxalosis. PH is rare, but the disease burden is high for individual patients and their families. Because the course of the disease is unpredictable, it leads to a lot of uncertainty throughout life.
Until recently, liver transplantation was the only curative treatment for PH, but it was recently discovered that RNA interference (RNAi) therapy can be used. With the help of RNAi, the production of specific proteins in the liver is inhibited, which reduces the production of oxalic acid. This new therapy represents a significant expansion of treatment options and may greatly improve the prognosis of PH patients.
Garrelfs wrote his dissertation, titled ‘Primary Hyperoxaluria: no longer stuck between a rock and a hard place‘ under the supervision of his promotors Prof. Dr. JW Groothoff and Prof. Dr. RJA Wanders and co-promoter Dr. MJS Oosterveld.
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