Dr. Mathieu Lemaire presents his talk, "Rocking the Boat - Unveiling the stone cold truth of Primary Hyperoxaluria," as part of BC Renal and UBC’s province-wide rounds.
0:05:00 - Introduction
Dr. Lemaire¬¬ begins by talking a bit about his work and the newly formed Canadian NephroGenegentics Consortium (CaNGen), before discussing a hyperoxaluria case example.
0:08:40 - Biology of oxalate
He then provides an overview of the pathology of primary hyperoxalurias (PH). Whereas oxalate is useful in bacteria and plants, it can be harmful in humans. 90 percent of oxalate is excreted through the kidneys, he notes.
0:12:55 - Genetics
Dr. Lemaire talks about genetics behind the condition (e.g., PH1, PH2, and PH3), and why genetic testing is important, noting that the expected biochemical abnormalities for PH subtypes are different.
0:18:35 - Recommended diagnostics
He highlights recommended diagnostic work-ups for suspected PH for adults and children. Dr. Lemaire emphasizes that PH is underdiagnosed, and many patients are diagnosed at late stages. He encourages systematic biopsies.
0:27:40 - Existing treatment
He then discusses existing treatments for each PH subtype. Nonsurgical options include hyperhydration, alkali citrate supplements, dietary restrictions (*may help), vitamin B6, and frequent, intense hemodialysis. He highlights RNA interfering therapies for PH, called Lumasiran and Nedosiran, which he describes as “gamechangers” for PH1 patients with end-stage renal disease and transplants. As well highlights some new surgeries and additional case examples.
0:52:14 - Summary and Q&A
Dr. Lemaire highlight key points from his talk before taking questions from the audience.
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11 окт 2024
