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

JW Groothoff, E Metry, L Deesker, S Garrelfs… - Nature Reviews …, 2023 - nature.com
Primary hyperoxaluria (PH) is an inherited disorder that results from the overproduction of
endogenous oxalate, leading to recurrent kidney stones, nephrocalcinosis and eventually …

Oxalate homeostasis

T Ermer, L Nazzal, MC Tio, S Waikar… - Nature Reviews …, 2023 - nature.com
Oxalate homeostasis is maintained through a delicate balance between endogenous
sources, exogenous supply and excretion from the body. Novel studies have shed light on …

Lumasiran, an RNAi therapeutic for primary hyperoxaluria type 1

SF Garrelfs, Y Frishberg, SA Hulton… - New England journal …, 2021 - Mass Medical Soc
Background Primary hyperoxaluria type 1 (PH1) is a rare genetic disease caused by hepatic
overproduction of oxalate that leads to kidney stones, nephrocalcinosis, kidney failure, and …

Phenotype-genotype correlations and estimated carrier frequencies of primary hyperoxaluria

K Hopp, AG Cogal, EJ Bergstralh… - Journal of the …, 2015 - journals.lww.com
Primary hyperoxaluria (PH) is a rare autosomal recessive disease characterized by oxalate
accumulation in the kidneys and other organs. Three loci have been identified: AGXT (PH1) …

Medical management of renal stones

MSC Morgan, MS Pearle - Bmj, 2016 - bmj.com
The prevalence of kidney stones is increasing in industrialized nations, resulting in a
corresponding rise in economic burden. Nephrolithiasis is now recognized as both a chronic …

Targeting the liver with nucleic acid therapeutics for the treatment of systemic diseases of liver origin

A Gogate, J Belcourt, M Shah, AZ Wang… - Pharmacological …, 2024 - Elsevier
Systemic diseases of liver origin (SDLO) are complex diseases in multiple organ systems,
such as cardiovascular, musculoskeletal, endocrine, renal, respiratory, and sensory organ …

Genetic assessment in primary hyperoxaluria: why it matters

G Mandrile, B Beck, C Acquaviva, G Rumsby… - Pediatric …, 2023 - Springer
Accurate diagnosis of primary hyperoxaluria (PH) has important therapeutic consequences.
Since biochemical assessment can be unreliable, genetic testing is a crucial diagnostic tool …

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

K Shee, ML Stoller - Nature Reviews Urology, 2022 - nature.com
Primary hyperoxalurias are a devastating family of diseases leading to multisystem oxalate
deposition, nephrolithiasis, nephrocalcinosis and end-stage renal disease. Traditional …

Enteric hyperoxaluria: an important cause of end-stage kidney disease

L Nazzal, S Puri, DS Goldfarb - Nephrology Dialysis …, 2016 - academic.oup.com
Hyperoxaluria is a frequent complication of inflammatory bowel diseases, ileal resection and
Roux-en-Y gastric bypass and is well-known to cause nephrolithiasis and nephrocalcinosis …

A randomised Phase II/III study to evaluate the efficacy and safety of orally administered Oxalobacter formigenes to treat primary hyperoxaluria

D Milliner, B Hoppe, J Groothoff - Urolithiasis, 2018 - Springer
Primary hyperoxaluria (PH) patients overproduce oxalate because of rare genetic errors in
glyoxylate metabolism. Recurrent urolithiasis and/or progressive nephrocalcinosis are PH …