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Primary hyperoxaluria type 1: time for prime time?

Authors
  • Bacchetta, Justine1, 2, 3
  • Wood, Kyle D4
  • 1 Service de Néphrologie, Rhumatologie et Dermatologie Pédiatriques, Centre de Référence des Maladies Rénales Rares Néphrogones, Filières Maladies Rares ORKID et ERK-Net, CHU de Lyon, Bron , (France)
  • 2 INSERM 1033, Research Unit, Université Claude Bernard Lyon 1, Lyon , (France)
  • 3 Faculté de Médecine Lyon Est, Université Claude Bernard Lyon 1, Lyon , (France)
  • 4 Department of Urology, University of Alabama at Birmingham, Birmingham, AL , (United States)
Type
Published Article
Journal
Clinical Kidney Journal
Publisher
Oxford University Press
Publication Date
May 17, 2022
Volume
15
Issue
Suppl 1
Identifiers
DOI: 10.1093/ckj/sfab233
PMID: 35592621
PMCID: PMC9113466
Source
PubMed Central
Keywords
Disciplines
  • AcademicSubjects/MED00340
License
Unknown

Abstract

Oxalate crystals in the kidney were first described in 1925. Since then, many major milestones have been reached in the understanding of genetic primary hyperoxaluria(s). Primary hyperoxaluria type 1 (PH1) is an autosomal recessive disease due to a mutation in the AGXT gene, which encodes the hepatic peroxisomal enzyme alanine-glyoxylate aminotransferase (AGT), inducing excess oxalate production and further kidney stones, nephrocalcinosis and chronic kidney disease (CKD). Symptoms and age at diagnosis of PH1 vary dramatically, from the most severe infantile forms leading to end-stage kidney disease (ESKD) during the first months of life to the less severe adult forms with moderate CKD and recurrent kidney stones. In 2020, the Food and Drug Administration (FDA) and European Medicines Agency (EMA) approved a therapy based on RNA interference (RNAi) that profoundly reduces endogenous oxalate synthesis and dramatically changes the treatment algorithm for patients with PH1. The aim of this supplement of Clinical Kidney Journal includes contemporary reviews of the pathophysiology and genetics, (conventional) medical therapeutic management, urological therapeutic management and novel therapies (including not only RNAi, but also other therapeutic perspectives). The specific opinions of both adult and paediatric nephrologists will be compared and the ethical issues, as well as challenges faced by physicians and patients in developing countries, will also be discussed. Despite all the accomplishments, there are still looming questions that require further investigation and discovery.

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