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Article Dans Une Revue Nature Reviews Nephrology Année : 2023

Clinical practice recommendations for primary hyperoxaluria: an expert consensus statement from ERKNet and OxalEurope

Jaap Groothoff
Ella Metry
  • Fonction : Auteur
Lisa Deesker
  • Fonction : Auteur
Sander Garrelfs
  • Fonction : Auteur
Cecile Acquaviva
  • Fonction : Auteur
Reham Almardini
  • Fonction : Auteur
Bodo Beck
Rimante Cerkauskiene
Pietro Manuel Ferraro
Luitzen Groen
  • Fonction : Auteur
Asheeta Gupta
  • Fonction : Auteur
Bertrand Knebelmann
  • Fonction : Auteur
Giorgia Mandrile
Shabbir Moochhala
  • Fonction : Auteur
Agnieszka Prytula
  • Fonction : Auteur
Jovana Putnik
  • Fonction : Auteur
Gill Rumsby
Neveen Soliman
  • Fonction : Auteur
Bhaskar Somani
Justine Bacchetta

Résumé

Primary hyperoxaluria (PH) is an inherited disorder that results from the overproduction of endogenous oxalate, leading to recurrent kidney stones, nephrocalcinosis and eventually kidney failure; the subsequent storage of oxalate can cause life-threatening systemic disease. Diagnosis of PH is often delayed or missed owing to its rarity, variable clinical expression and other diagnostic challenges. Management of patients with PH and kidney failure is also extremely challenging. However, in the past few years, several new developments, including new outcome data from patients with infantile oxalosis, from transplanted patients with type 1 PH (PH1) and from patients with the rarer PH types 2 and 3, have emerged. In addition, two promising therapies based on RNA interference have been introduced. These developments warrant an update of existing guidelines on PH, based on new evidence and on a broad consensus. In response to this need, a consensus development core group, comprising (paediatric) nephrologists, (paediatric) urologists, biochemists and geneticists from OxalEurope and the European Rare Kidney Disease Reference Network (ERKNet), formulated and graded statements relating to the management of PH on the basis of existing evidence. Consensus was reached following review of the recommendations by representatives of OxalEurope, ESPN, ERKNet and ERA, resulting in 48 practical statements relating to the diagnosis and management of PH, including consideration of conventional therapy (conservative therapy, dialysis and transplantation), new therapies and recommendations for patient follow-up.

Dates et versions

hal-04095825 , version 1 (12-05-2023)

Identifiants

Citer

Jaap Groothoff, Ella Metry, Lisa Deesker, Sander Garrelfs, Cecile Acquaviva, et al.. Clinical practice recommendations for primary hyperoxaluria: an expert consensus statement from ERKNet and OxalEurope. Nature Reviews Nephrology, 2023, 19 (3), pp.194-211. ⟨10.1038/s41581-022-00661-1⟩. ⟨hal-04095825⟩

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