학술논문
Clinical practice recommendations for primary hyperoxaluria: an expert consensus statement from ERKNet and OxalEurope
Document Type
Review Paper
Author
Groothoff, Jaap W.; Metry, Ella; Deesker, Lisa; Garrelfs, Sander; Acquaviva, Cecile; Almardini, Reham; Beck, Bodo B.; Boyer, Olivia; Cerkauskiene, Rimante; Ferraro, Pietro Manuel; Groen, Luitzen A.; Gupta, Asheeta; Knebelmann, Bertrand; Mandrile, Giorgia; Moochhala, Shabbir S.; Prytula, Agnieszka; Putnik, Jovana; Rumsby, Gill; Soliman, Neveen A.; Somani, Bhaskar; Bacchetta, Justine
Source
Nature Reviews Nephrology. 19(3):194-211
Subject
Language
English
ISSN
1759-5061
1759-507X
1759-507X
Abstract
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.
Primary hyperoxaluria is an inherited disorder that results from the overproduction of endogenous oxalate, leading to recurrent kidney stones, nephrocalcinosis, kidney failure and life-threatening systemic disease. This Consensus Statement from ERKNet and OxalEurope provides recommendations for the management of primary hyperoxaluria, including consideration of conventional therapies, new therapies and recommendations for patient follow-up.
Primary hyperoxaluria is an inherited disorder that results from the overproduction of endogenous oxalate, leading to recurrent kidney stones, nephrocalcinosis, kidney failure and life-threatening systemic disease. This Consensus Statement from ERKNet and OxalEurope provides recommendations for the management of primary hyperoxaluria, including consideration of conventional therapies, new therapies and recommendations for patient follow-up.