Primary hyperoxaluria (PH) is a group of autosomal recessive disorders of glyoxylate metabolism that cause overproduction of endogenous oxalate, potentially leading to kidney stones. If hepatic oxalate production exceeds renal removal, systemic oxalate storage in various tissues can lead to life-threatening multiorgan disease.
The prevalence of PH is slightly less than 1000 persons in the United States, and the disease's rarity, combined with its heterogeneous presentation, presents a diagnostic challenge. The first effective pharmacologic treatments for PH — RNA interference (RNAi) therapies — have recently become available and have begun to have an impact on the management of PH.
Can you separate fact from fiction when it comes to PH? Test your knowledge with this quiz.
Medscape © 2023 WebMD, LLC
Any views expressed above are the author's own and do not necessarily reflect the views of WebMD or Medscape.
Cite this: Brad Schwartz. Fact or Fiction: Primary Hyperoxaluria - Medscape - Aug 25, 2023.