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:

Networked: 378 relevant articles (10 outcomes, 16 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Hyperoxaluria
2.	Kidney Calculi (Kidney Stone)
3.	Thrombophilia
4.	Primary Hyperoxaluria (Oxaluria, Primary)
5.	Chronic Kidney Failure (Chronic Renal Failure)

Experts

1.	Cellini, Barbara: 11 articles (10/2015 - 11/2007)
2.	Salido, Eduardo: 11 articles (01/2015 - 03/2005)
3.	Milliner, Dawn S: 10 articles (10/2013 - 03/2005)
4.	Cochat, Pierre: 9 articles (01/2016 - 08/2006)
5.	Hoppe, Bernd: 9 articles (03/2014 - 04/2009)
6.	Oppici, Elisa: 8 articles (10/2015 - 02/2010)
7.	Montioli, Riccardo: 8 articles (10/2015 - 11/2007)
8.	Holmes, Ross P: 7 articles (12/2015 - 03/2005)
9.	Frishberg, Yaacov: 7 articles (10/2015 - 11/2002)
10.	Fargue, Sonia: 7 articles (10/2015 - 08/2006)

Drugs and Biologics

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

1.	Pyridoxine (Pyridoxin)FDA LinkGeneric 08/01/2012 - "In addition, pyridoxine treatment can be used to normalize or reduce oxalate excretion in about 30% of patients with primary hyperoxaluria type I. Time on dialysis should be short to avoid overt systemic oxalosis. " 05/01/2005 - "Pyridoxine effect in type I primary hyperoxaluria is associated with the most common mutant allele." 03/01/2005 - "Implications of genotype and enzyme phenotype in pyridoxine response of patients with type I primary hyperoxaluria." 09/20/1986 - "Pyridoxine in primary hyperoxaluria type I." 08/17/1985 - "Successful treatment of infantile type I primary hyperoxaluria complicated by pyridoxine toxicity."
2.	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." 01/01/2001 - "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." 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). " 08/01/2012 - "Treatment options for primary hyperoxaluria include alkaline citrate, orthophosphate, or magnesium. "
3.	Calcium OxalateIBA 01/01/2016 - "Deposition of calcium oxalate crystals in the kidney and bone is a hallmark of primary hyperoxaluria (PH). " 09/01/2015 - "Inherited mutations on the AGXT gene encoding AGT lead to Primary Hyperoxaluria Type I (PH1), a rare disorder characterized by the deposition of calcium oxalate crystals primarily in the urinary tract. " 04/01/2015 - "Primary hyperoxaluria is a rare hereditary metabolic disorder resulting in accumulation of calcium oxalate in visceral organs, including the heart. " 01/01/2015 - "In patients with primary hyperoxaluria, levels of urinary and plasma oxalate; and the presence of nearly pure calcium oxalate monohydrate in stones, which often also have an unusually pale colour and unorganized structure, increase diagnostic suspicion. " 11/01/2011 - "Ultimately, biopsy revealed birefringent calcium oxalate crystals, which raised suspicion of primary hyperoxaluria. "
4.	Oxalic Acid (Acid, Oxalic)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." 07/01/2010 - "Patients with primary hyperoxaluria may need repeated kidney transplants due to damage from oxalic acid (oxalate) deposits. " 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. "
5.	PyridoxamineIBA 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." 11/01/2005 - "Pyridoxamine lowers oxalate excretion and kidney crystals in experimental hyperoxaluria: a potential therapy for primary hyperoxaluria." 01/01/2005 - "Pyridoxamine lowers kidney crystals in experimental hyperoxaluria: a potential therapy for primary hyperoxaluria." 10/01/2015 - "Pyridoxamine and pyridoxal are more effective than pyridoxine in rescuing folding-defective variants of human alanine:glyoxylate aminotransferase causing primary hyperoxaluria type I."
6.	Allopurinol (Remid)FDA LinkGeneric 01/01/1986 - "The association of thiazide and allopurinol seems to be a more effective therapy in recurrent stone formers with primary hyperoxaluria than high diuresis and succinimide." 03/01/2013 - "Pyridoxine has been shown effective in some cases of primary hyperoxaluria type I. Allopurinol is used in calcium oxalate stone formers with hyperuricosuria. "
7.	VitaminsIBA 07/01/1985 - "We have measured glomerular filtration rate (GFR), extracellular fluid volume (ECF), oxalate distribution volume (OxDV), plasma oxalate concentration (POx.), plasma total clearance of oxalate (PCOx.), oxalate metabolic pool size [(OxDV) X (POx.)], renal clearance of oxalate (RCOx.), oxalate excretion, tissue clearance of oxalate (TCOx.) and tissue oxalate accumulation rate [(TOx.A) = (TCOx.) X (POx.)] in three patients with type I primary hyperoxaluria (hyperoxaluria with hyperglycollic aciduria) when they were taking pyridoxine and after discontinuation of the vitamin. "
8.	glyoxylic acid (glyoxylate)IBA 11/01/2014 - "The physiological importance of AGXT2 was largely overlooked for three decades because AGXT2 is less active in glyoxylate metabolism than AGXT1, the enzyme that is deficient in primary hyperoxaluria type I. Recently, several novel functions of AGXT2 have been 'rediscovered' in the setting of modern genomic and metabolomic studies. " 06/01/1967 - "Oxalate formation from glyoxylate in primary hyperoxaluria: studies on liver tissue." 01/01/2015 - "Primary hyperoxaluria (PH) is a rare inborn error in the pathway of glyoxylate metabolism which causes excessive oxalate production. " 05/21/2014 - "Primary hyperoxaluria (PH) occurs due to an autosomal recessive hereditary disorder of the metabolism of glyoxylate, which causes excessive oxalate production. " 03/01/2013 - "Primary hyperoxaluria type I is a rare inherited disease that presents a disturbed metabolism of glyoxylate. "
9.	Alanine-glyoxylate transaminase (alanine-glyoxylate aminotransferase)IBA 09/15/2014 - "In the present study we apply a sequence-alignment statistics procedure (consensus-based approach) to improve the activity and stability of the human AGT (alanine-glyoxylate aminotransferase) protein, an enzyme which causes PH1 (primary hyperoxaluria type I) upon mutation. " 10/16/2015 - "The Chaperoning Activity of Amino-oxyacetic Acid on Folding-Defective Variants of Human Alanine:Glyoxylate Aminotransferase Causing Primary Hyperoxaluria Type I." 09/01/2015 - "Liver peroxisomal alanine:glyoxylate aminotransferase and the effects of mutations associated with Primary Hyperoxaluria Type I: An overview." 04/01/2015 - "adolescentis ATCC 15703 were administered to wild-type (WT) mice and to mice deficient in the hepatic enzyme alanine-glyoxylate aminotransferase (Agxt(-/-), a mouse model of Primary Hyperoxaluria) that were fed an oxalate-supplemented diet. " 10/07/2014 - "Primary hyperoxaluria 1 (PH1; Online Mendelian Inheritance in Man no. 259900), a typically lethal biochemical disorder, may be caused by the AGT(P11LG170R) allele in which the alanine:glyoxylate aminotransferase (AGT) enzyme is mistargeted from peroxisomes to mitochondria. "
10.	CalciumIBA 07/01/2003 - "Studies have suggested possible mechanisms for the association, including hyperuricosuria, hyperoxaluria, primary defects in calcium handling caused by mutation of the CF transmembrane regulator (CFTR), hypocitraturia, and lack of colonization with O formigenes, an enteric oxalate-degrading bacterium. " 11/01/2009 - "Primary hyperoxaluria is characterized by a calcium deposit in different tissues, mainly in kidneys. " 03/10/1989 - "Results of analyses of urine samples from healthy persons, idiopathic calcium stone formers and Type I primary hyperoxaluria patients are reported." 11/18/1988 - "Results of determinations on urine samples from healthy controls and from patients with idiopathic calcium stone disease and type I primary hyperoxaluria are reported." 01/01/2008 - "Secondary hyperoxaluria occurred in a significant percentage of children with calcium urolithiasis, predominantly in males, whereas primary hyperoxaluria is casuistic."

Therapies and Procedures

1.	Transplants (Transplant) 01/01/2014 - "Auxiliary liver transplant is an effective and safe treatment of primary hyperoxaluria." 04/01/2015 - "Between January 2002 and 2013, there were 3 patients who underwent transplant for primary hyperoxaluria. " 04/01/2015 - "Liver and kidney transplant in primary hyperoxaluria: a single center experience." 02/01/2015 - "In this report, we describe for the first time a pregnancy using sperm retrieved from an azoospermic man with kidney transplant due to type I primary hyperoxaluria. " 02/01/2015 - "Successful ICSI in an azoospermic and kidney transplant man with type 1 primary hyperoxaluria and first histopathological testicular findings described in the literature."
2.	Kidney Transplantation 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. " 01/01/2015 - "Recurrence of crystalline nephropathy after kidney transplantation in APRT deficiency and primary hyperoxaluria." 09/01/2013 - "Combined liver and kidney transplantation in primary hyperoxaluria: a report of three cases and review of the literature." 11/01/2011 - "Recurrence of primary hyperoxaluria after kidney transplantation."
3.	Liver Transplantation 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." 08/15/2001 - "The appropriate use of liver transplantation in children with type-1 primary hyperoxaluria (PH-1) is not well established. " 05/15/2001 - "Domino hepatic transplantation using the liver from a patient with primary hyperoxaluria."
4.	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." 01/01/2015 - "Primary hyperoxaluria is a severe disease for which the best current therapy is dialysis or 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. "
5.	Renal Dialysis (Hemodialysis) 06/01/1992 - "Oxalate balance studies in patients on hemodialysis for type I primary hyperoxaluria." 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). " 04/01/1995 - "Hemodialysis patient regarded as a primary hyperoxaluria after long-term hemodialysis and renal transplantation." 09/01/1992 - "We report the case of a 31-year-old patient who underwent combined liver and kidney transplantation for primary hyperoxaluria type I. Intensive hemodialysis was performed before the intervention and post-operatively in order to maintain plasma oxalate levels near the normal range. "