A report from the European Hyperoxaluria Consortium (OxalEurope) Registry on a large cohort of patients with primary hyperoxaluria type 3

Martín-Higueras, Cristina; Garrelfs, Sander F.; Groothoff, Jaap W.; Jacob, Dorrit E.; Moochhala, Shabbir H.; Bacchetta, Justine; Acquaviva, Cécile; Zaniew, Marcin; Sikora, Przemysław; Beck, Bodo B.; Höppe, Bernd

doi:10.1016/j.kint.2021.03.031

Cited by 36 publications

(33 citation statements)

References 47 publications

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“…7,9 More than one-third of patients with PH2 progress to kidney failure by age 40 years. 14 More than half of PH3 cases (50% to 89%) present with renal stones before age 5 years, 15,16 14% to 29% develop chronic renal disease, [16][17][18] and 3% to 4% develop kidney failure by age 40 years. 8,16 Novel therapeutic strategies focus on ribonucleic acid interference (RNAi) to decrease the levels of enzymes involved in the glyoxylate metabolic pathway and so reduce oxalate production.…”

Section: Word Count = 3587mentioning

confidence: 99%

Safety, pharmacodynamics, and exposure-response modeling results from a first-in-human phase 1 study of nedosiran (PHYOX1) in primary hyperoxaluria

Höppe

Koch²,

Cochat

et al. 2022

Kidney International

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This is a PDF file of an article that has undergone enhancements after acceptance, such as the addition of a cover page and metadata, and formatting for readability, but it is not yet the definitive version of record. This version will undergo additional copyediting, typesetting and review before it is published in its final form, but we are providing this version to give early visibility of the article. Please note that, during the production process, errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain.

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Section: Word Count = 3587mentioning

confidence: 99%

Safety, pharmacodynamics, and exposure-response modeling results from a first-in-human phase 1 study of nedosiran (PHYOX1) in primary hyperoxaluria

Höppe

Koch²,

Cochat

et al. 2022

Kidney International

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“…Also slightly increased ECM expression in additional cell-types such as proximal tubule epithelium, endothelium and macrophages were observed ( 17 ). The epithelial-to-mesenchymal transition (EMT) of proximal tubular epithelium into myofibroblast has been controversial discussed for more than 20 years.…”

Section: Initiation Of Kidney Fibrosismentioning

confidence: 99%

“…Studies using genetic fate-tracing experiments demonstrated a major contribution ( 18 ), no contribution ( 19 ) or a minor contribution ( 20 ) of EMT. Although a minor matrix production in proximal tubule epithelium could be detected, the proof of a contribution of proximal tubule epithelial cells to the pool of myofibroblasts failed in an inducible genetic fate tracing experiment using bigenic SLC34a1-GFPCreER;tdTomato mice in the murine kidney fibrosis model of UUO ( 14 ) as well as in the scRNA-seq study ( 17 ). However, injured proximal tubule epithelial cells are still considered important drivers of kidney injury and fibrosis, as e.g., also recently demonstrated by scRNA-seq studies in mouse models of acute kidney injury ( 21 , 22 ).…”

Section: Initiation Of Kidney Fibrosismentioning

confidence: 99%

“…It causes sometimes severe recurrent urolithiasis and nephrocalcinosis in about 10% of patients. So far it was regarded to have a less problematic course, but according to new registry data it is known, that also adult patients remain active stone formers and that about 21% of patients develop > stage 2 CKD ( 17 ). Also, patients with end stage renal failure are now observed ( 34 ).…”

Section: Immunological Mechanisms In Kidney Fibrosismentioning

confidence: 99%

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New Aspects of Kidney Fibrosis–From Mechanisms of Injury to Modulation of Disease

et al. 2022

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Organ fibrogenesis is characterized by a common pathophysiological final pathway independent of the underlying progressive disease of the respective organ. This makes it particularly suitable as a therapeutic target. The Transregional Collaborative Research Center “Organ Fibrosis: From Mechanisms of Injury to Modulation of Disease” (referred to as SFB/TRR57) was hosted from 2009 to 2021 by the Medical Faculties of RWTH Aachen University and the University of Bonn. This consortium had the ultimate goal of discovering new common but also different fibrosis pathways in the liver and kidneys. It finally successfully identified new mechanisms and established novel therapeutic approaches to interfere with hepatic and renal fibrosis. This review covers the consortium's key kidney-related findings, where three overarching questions were addressed: (i) What are new relevant mechanisms and signaling pathways triggering renal fibrosis? (ii) What are new immunological mechanisms, cells and molecules that contribute to renal fibrosis?, and finally (iii) How can renal fibrosis be modulated?

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“…The most frequently described mutation is c.700 + 5G > T, which accounts for ~50% of all mutant alleles 25 . PH3 is less severe than PH1 and PH2, and tends to present with early symptomatic nephrolithiasis in the first months to years of life 8 , 25 , 26 .…”

Section: Introductionmentioning

confidence: 99%

Perspectives in primary hyperoxaluria — historical, current and future clinical interventions

Shee

Stoller

2021

Nat Rev Urol

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Primary hyperoxalurias are a devastating family of diseases leading to multisystem oxalate deposition, nephrolithiasis, nephrocalcinosis and end-stage renal disease. Traditional treatment paradigms are limited to conservative management, dialysis and combined transplantation of the kidney and liver, of which the liver is the primary source of oxalate production. However, transplantation is associated with many potential complications, including operative risks, graft rejection, post-transplant organ failure, as well as lifelong immunosuppressive medications and their adverse effects. New therapeutics being developed for primary hyperoxalurias take advantage of biochemical knowledge about oxalate synthesis and metabolism, and seek to specifically target these pathways with the goal of decreasing the accumulation and deposition of oxalate in the body.

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A report from the European Hyperoxaluria Consortium (OxalEurope) Registry on a large cohort of patients with primary hyperoxaluria type 3

Cited by 36 publications

References 47 publications

Safety, pharmacodynamics, and exposure-response modeling results from a first-in-human phase 1 study of nedosiran (PHYOX1) in primary hyperoxaluria

Safety, pharmacodynamics, and exposure-response modeling results from a first-in-human phase 1 study of nedosiran (PHYOX1) in primary hyperoxaluria

New Aspects of Kidney Fibrosis–From Mechanisms of Injury to Modulation of Disease

Perspectives in primary hyperoxaluria — historical, current and future clinical interventions

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