Primary Hyperoxaluria (Oxaluria, Primary)

A genetic disorder characterized by excretion of large amounts of OXALATES in urine; NEPHROLITHIASIS; NEPHROCALCINOSIS; early onset of RENAL FAILURE; and often a generalized deposit of CALCIUM OXALATE. There are subtypes classified by the enzyme defects in glyoxylate metabolism.

Also Known As:

Oxaluria, Primary; Hyperoxaluria, Primary; Primary Oxalosis; Primary Oxaluria; Hyperoxalurias, Primary; Oxaloses, Primary; Oxalosis, Primary; Oxalurias, Primary; Primary Hyperoxalurias; Primary Oxaloses; Primary Oxalurias

Networked: 700 relevant articles (27 outcomes, 32 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Kidney Calculi (Kidney Stone)
2.	Chronic Kidney Failure (Chronic Renal Failure)
3.	Hyperoxaluria (Oxaluria)
4.	Rare Diseases (Rare Disease)
5.	Thrombophilia

Experts

1.	Milliner, Dawn S: 31 articles (01/2022 - 03/2005)
2.	Hoppe, Bernd: 27 articles (07/2022 - 09/2003)
3.	Cellini, Barbara: 25 articles (01/2022 - 11/2007)
4.	Lieske, John C: 22 articles (01/2022 - 05/2005)
5.	Salido, Eduardo: 21 articles (07/2022 - 03/2005)
6.	Cochat, Pierre: 16 articles (01/2022 - 08/2006)
7.	Oppici, Elisa: 16 articles (04/2021 - 02/2010)
8.	Knight, John: 15 articles (07/2021 - 03/2005)
9.	Holmes, Ross P: 14 articles (01/2020 - 11/2004)
10.	Fargue, Sonia: 13 articles (01/2021 - 08/2006)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Primary Hyperoxaluria:

1.	OxalatesIBA 10/01/2006 - "formigenes is safe, leads to a significant reduction of either urinary or plasma oxalate, and is a potential new treatment option for primary hyperoxaluria." 01/01/2014 - "Patients with primary hyperoxaluria (PH) overproduce oxalate which is eliminated via the kidneys. " 01/01/1979 - "In a family from which two children suffered from primary hyperoxaluria the renal clearance of (14C) oxalate was studied. " 09/01/1971 - "The renal clearance of oxalate in normal subjects and patients with primary hyperoxaluria." 01/01/2023 - "This study describes patient characteristics and examines graft function of kidney transplant recipients (without primary hyperoxaluria) with elevated plasma oxalate (POx) and enteric risk factors prior to transplant at our institution. "
2.	Calcium OxalateIBA 04/01/2022 - "Oxalobacter formigenes treatment confers protective effects in a rat model of primary hyperoxaluria by preventing renal calcium oxalate deposition." 01/01/1982 - "Calcium oxalate deposition in growing bone: anatomical and radiological study in a case of primary oxalosis." 01/01/2022 - "To assess the incidence of primary hyperoxaluria and to develop the diagnostic value of bone marrow infiltration by calcium oxalate in uremic stone former patients. " 01/01/2022 - "Posttransplant recurrence of calcium oxalate crystals in patients with primary hyperoxaluria: Incidence, risk factors, and effect on renal allograft function." 11/01/2020 - "Primary oxalosis is a rare hereditary disorder of metabolism resulting in accumulation of calcium oxalate in almost all tissues of the body. "
3.	glyoxylic acid (glyoxylate)IBA 01/01/2023 - "The primary hyperoxalurias are rare disorders of glyoxylate metabolism. " 12/01/2022 - "Primary hyperoxalurias (PH) are a group of rare heterogeneous disorders characterized by deficiencies in glyoxylate metabolism. " 01/01/2022 - "Primary hyperoxaluria (PH) is a rare heterogeneous, autosomal recessive disorder of glyoxylate metabolism. " 01/01/2022 - "Primary hyperoxalurias (PHs) are rare autosomal recessive diseases of the glyoxylate metabolism; PH1 is caused by mutations in the AGXT gene, PH2 in GRHPR and PH3 in HOGA1. " 11/27/2021 - "Primary hyperoxaluria (PH) is a rare inherited autosomal recessive disease caused by disturbed glyoxylate metabolism. "
4.	Vitamin B 6IBA 07/01/2022 - "In type 1 primary hyperoxaluria, vitamin B6, though, is helpful in patients with specific missense or mistargeting mutations. " 03/01/2014 - "Vitamin B6 in primary hyperoxaluria I: first prospective trial after 40 years of practice." 02/01/1989 - "Vitamin B6 resistant primary hyperoxaluria type I. Report of 5 cases." 01/01/1987 - "Primary hyperoxaluria: effect of treatment with vitamin B6 and shock waves." 01/01/2018 - "Correlation between the molecular effects of mutations at the dimer interface of alanine-glyoxylate aminotransferase leading to primary hyperoxaluria type I and the cellular response to vitamin B6."
5.	Pyridoxine (Pyridoxin)FDA LinkGeneric 06/01/2020 - "Pyridoxine Responsiveness in a Type 1 Primary Hyperoxaluria Patient With a Rare (Atypical) AGXT Gene Mutation." 05/01/2005 - "Pyridoxine effect in type I primary hyperoxaluria is associated with the most common mutant allele." 09/20/1986 - "Pyridoxine in primary hyperoxaluria type I." 08/17/1985 - "Successful treatment of infantile type I primary hyperoxaluria complicated by pyridoxine toxicity." 04/11/1985 - "Our results also suggest that smaller doses of pyridoxine than those heretofore employed should be tried in patients with primary hyperoxaluria."
6.	glycollate oxidaseIBA 01/01/2019 - "Re: CRISPR/Cas9-Mediated Glycolate Oxidase Disruption is an Efficacious and Safe Treatment for Primary Hyperoxaluria Type I." 12/21/2018 - "CRISPR/Cas9-mediated glycolate oxidase disruption is an efficacious and safe treatment for primary hyperoxaluria type I." 04/01/2016 - "Glycolate Oxidase Is a Safe and Efficient Target for Substrate Reduction Therapy in a Mouse Model of Primary Hyperoxaluria Type I." 01/01/2016 - "Re: Glycolate Oxidase is a Safe and Efficient Target for Substrate Reduction Therapy in a Mouse Model of Primary Hyperoxaluria Type I." 07/08/2021 - "Dual Glycolate Oxidase/Lactate Dehydrogenase A Inhibitors for Primary Hyperoxaluria."
7.	Citric Acid (Citrate)FDA LinkGeneric 01/01/1995 - "Efficacy of oral citrate administration in primary hyperoxaluria." 04/01/1993 - "Management of primary hyperoxaluria: efficacy of oral citrate administration." 01/01/1995 - "Urinary citrate is a potent inhibitor of calcium oxalate (CaOx) crystallization, but oral citrate has rarely been used in patients with primary hyperoxaluria (PH). " 06/12/2012 - "Treatment options for primary hyperoxaluria include alkaline citrate, orthophosphate, or magnesium. " 01/01/2001 - "The severity of disease expression is greater in type I primary hyperoxaluria than in type II. The difference may be due to greater oxalate excretion and lower concentrations of urine citrate and magnesium in patients with PHI compared with PHII."
8.	Therapeutic UsesIBA 11/01/2005 - "These results, coupled with favorable toxicity profiles of PM in humans, show promise for the therapeutic use of PM in primary hyperoxaluria and other kidney stone diseases." 01/01/2005 - "These results, coupled with favorable toxicity profiles of pyridoxamine in humans, show promise for therapeutic use of pyridoxamine in primary hyperoxaluria and other kidney stone diseases." 05/01/1986 - "[Therapeutic effect of pyridoxine and succinimide in the treatment of a patient with primary hyperoxaluria]."
9.	Oxalic Acid (Disodium Oxalate)IBA 07/01/1963 - "THE RENAL CLEARANCE OF OXALIC ACID IN NORMAL SUBJECTS AND IN PATIENTS WITH PRIMARY HYPEROXALURIA." 09/15/2008 - "A solid phase extraction (SPE)-LC-MSMS method for the routine determination of oxalic acid (OX) in plasma, a diagnostic marker of primary hyperoxaluria (PH), was developed and validated. " 04/01/1996 - "The present review recalls the normal metabolism of oxalic acid, details its deviations and their clinical consequences, and describes the methods of diagnosis and treatment to be presently recommended in primary hyperoxaluria." 05/01/1981 - "Primary hyperoxaluria is a rare metabolic disease characterized by exaggerated production of oxalic acid. " 11/01/1989 - "The rare genetic disorder, primary hyperoxaluria, is characterized by the continuous excessive synthesis and urinary excretion of oxalic acid, leading to stone formation and renal insufficiency. "
10.	Adenine phosphoribosyltransferase deficiencyIBA 01/01/2015 - "Primary hyperoxaluria and APRT deficiency are rare inborn errors of human metabolism. " 01/01/2015 - "Increasing transplant physicians knowledge of APRT deficiency and primary hyperoxaluria should enable them to implement adequate diagnostic and therapeutic interventions, thereby achieving good outcomes after kidney transplantation. " 01/01/2015 - "Recurrence of crystalline nephropathy after kidney transplantation in APRT deficiency and primary hyperoxaluria." 11/01/2005 - "In particular, several patients with primary hyperoxaluria or 2,8-dihydroxyadeninuria were diagnosed while already on dialysis or after unsuccessful kidney transplantation, due to wrong initial diagnosis. " 01/01/2015 - "Patients with APRT deficiency or primary hyperoxaluria may develop ESRD as a result of crystalline nephropathy. "

Therapies and Procedures

1.	Therapeutics 02/01/2023 - "Primary Hyperoxaluria: A Need for New Perspectives in an Era of New Therapies." 01/01/2020 - "Recent years have brought exciting new insights in the field of primary hyperoxaluria (PH), both on a basic research level as well as through the progress of novel therapeutics in clinical development. " 12/01/2018 - "Searches were conducted using the following medical headings: (primary) hyperoxaluria, PH, therapy, treatment and research. " 01/01/2017 - "Molecular therapy of primary hyperoxaluria." 03/15/2012 - "These model systems should be valuable tools for exploring various aspects of Hyp metabolism and will be useful in determining whether blocking Hyp catabolism is an effective therapy in the treatment of primary hyperoxaluria."
2.	Liver Transplantation 01/01/2014 - "Auxiliary liver transplant is an effective and safe treatment of primary hyperoxaluria." 01/01/2014 - "Auxiliary liver transplant is an ineffective treatment of primary hyperoxaluria." 01/01/2011 - "Pre-emptive liver transplantation for primary hyperoxaluria (PH-I) arrests long-term renal function deterioration." 08/15/2005 - "Liver transplantation (LTX) corrects the enzymatic defect responsible for type 1 primary hyperoxaluria (PH1). " 07/15/2003 - "Monitoring method for pre- and post-liver transplantation in patients with primary hyperoxaluria type I."
3.	Kidney Transplantation 01/01/2008 - "The most original contributions of the department are related to the performance of combined liver-kidney transplantation in primary hyperoxaluria, to the determination of the natural history of several congenital anomalies of the kidney and urinary tract, to the assessment of the role of genetic mutations on tubular and glomerular diseases, to the usefulness of radioisotopic tracers in the measurement of renal function in infants, and to the study of experimental tolerance of allografts. " 01/01/2006 - "The most original contributions of the department are related to the performance of combined liver-kidney transplantation in primary hyperoxaluria, to the determination of the natural history of several congenital anomalies of the kidney and urinary tract, to the assessment of the role of genetical mutations on tubular and glomerular diseases, to the usefulness of radioisotopic tracers in the measurement of renal function in infants, and to the study of experimental tolerization of" 03/01/1999 - "The purpose of this study was to analyze orthopedics problems caused by type I primary hyperoxaluria before and after liver and kidney transplantation. " 11/27/2021 - "Primary hyperoxaluria diagnosed after kidney transplantation: a case report and literature review." 06/01/2021 - "Combined liver-kidney transplantation is a therapeutic option for children affected by type 1 primary hyperoxaluria. "
4.	Renal Dialysis (Hemodialysis) 01/01/2021 - "Natural History of Clinical, Laboratory, and Echocardiographic Parameters of a Primary Hyperoxaluria Cohort on Long Term Hemodialysis." 01/01/1996 - "[Twenty one years of hemodialysis in a patient with primary hyperoxaluria]." 04/01/1995 - "We report here an adult case who was introduced into hemodialysis and subsequently regarded to have primary hyperoxaluria (PH). " 10/01/1988 - "A 16-year-old girl with primary oxalosis type I presented with progressive claudication soon after being treated with chronic intermittent hemodialysis. " 10/01/1981 - "A 27-year-old man with primary oxalosis and extensive visceral involvement was maintained on long-term chronic hemodialysis. "
5.	Organ Transplantation 10/01/2006 - "Such approaches give hope for a future therapeutic cure for primary hyperoxaluria that includes correction of the underlying genetic defect without exposure to the life-long dangers associated with organ transplantation." 09/01/2012 - "Significant advances in the pathophysiology of primary hyperoxalurias have led to better diagnosis and treatment of these patients, but current treatment relies mainly on organ transplantation. " 06/30/1979 - "[Intact function of a transplanted kidney 3 years after organ transplantation with primary oxalosis]." 01/01/2015 - "Primary hyperoxaluria is a severe disease for which the best current therapy is dialysis or organ transplantation. "