Primary Hyperoxaluria

Watts, R. W. E.; Mansell, M. A.

doi:10.1007/978-1-4471-1626-4_5

Cited by 5 publications

(7 citation statements)

References 45 publications

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“…Primary hyperoxaluria is a group of autosomal recessively inherited enzymatic deficiencies that lead to the increased urinary excretion of oxalate. In Type 1 primary hyperoxaluria, there is a reduction of alanine : glyoxylate aminotransferase (AGT) activity in the liver, leading to an accumulation of oxalate [2]. Type 2 primary hyperoxaluria involves a mutation of glyoxylate reductase/D-glycerate dehydrogenase, leading to the excretion of increased amounts of L-glyceric acid as well as oxalate [3].…”

Section: Introductionmentioning

confidence: 99%

Vitamin C Induced Oxalate Nephropathy

2017

American Journal of Kidney Diseases

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Although a multitude of syndromes have been thoroughly described as a result of vitamin deficiencies, over consumption of such substances may also be quite dangerous. Intratubular crystallization of calcium oxalate as a result of hyperoxaluria can cause acute renal failure. This type of renal failure is known as oxalate nephropathy. Hyperoxaluria occurs as a result of inherited enzymatic deficiencies known as primary hyperoxaluria or from exogenous sources known as secondary hyperoxaluria. Extensive literature has reported and explained the mechanism of increased absorption of oxalate in malabsorptive syndromes leading to renal injury. However, other causes of secondary hyperoxaluria may also take place either via direct dietary consumption of oxalate rich products or via other substances which may metabolize into oxalate within the body. Vitamin C is metabolized to oxalate. Oral or parenteral administration of this vitamin has been used in multiple settings such as an alternative treatment of malignancy or as an immune booster. This article presents a clinical case in which ingestion of high amounts of vitamin C lead to oxalate nephropathy. This article further reviews other previously published cases in order to illustrate and highlight the potential renal harm this vitamin poses if consumed in excessive amounts.

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Section: Introductionmentioning

confidence: 99%

Vitamin C Induced Oxalate Nephropathy

2017

American Journal of Kidney Diseases

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“…It is sub-classified into three types; type 1 being the most common, accounting for about 80% of patients with PH (Hoppe and Langman 2003). Calcium oxalate deposition occurs as well in the heart, blood vessels, joints, bone, and retina manifested as systemic oxalosis (Watts, 1994;Hoppe et al, 2009;Tang et al, 2015) .…”

Section: Warfarin Exerts Its Anticoagulation Effect Through Itsmentioning

confidence: 99%

Case report: Late onset warfarin-induced skin necrosis

Yaghi¹,

Gaber²,

Chughtai³

2015

Int. J. Med. Med. Sci.

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Warfarin induced skin necrosis (WISN) represents a rare complication of warfarin therapy that is associated with high incidence of morbidity and mortality. It usually presents in susceptible patients within 10 days of initiation of therapy. The study report a case of 24 years old gentleman who is known to have a unique rare inborn error of metabolism (primary hyperoxaluria), and was diagnosed with late onset WISN after being on warfarin for 28 months for recurrent pulmonary embolisms. The skin lesions in the study patient were not associated with underlying protein C or S deficiency.

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“…Deficiency of this enzyme leads to the less common primary hyperoxaluria type 2 (PH2) [3]. PH1, which is the more common type of the disorder, is characterized by excessive excretion of oxalate and glycolate in the urine, while PH2 is characterized by hyperoxaluria and L-glyceric aciduria [1][2][3]. PH1 is responsible for F1% of the cases of end-stage renal disease (ESRD) in children, developing in one half of the patients by the age of 15 years [4].…”

Section: Introductionmentioning

confidence: 99%

“…Pyridoxine (vitamin B 6 ) is a coenzyme of AGT. Deficiency of AGT protein or abnormalities in its structure, leading to the absence of AGT-catalytic activity, or its abnormal localization in the mitochondria rather than hepatic peroxisomes (mistargeting phenotype) can lead to primary hyperoxaluria type 1 (PH1) [1,2]. Glyoxalate can also be metabolized to glycolate, in a reaction catalyzed in part by the cytosolic enzyme glyoxalate reductase/D-glycerate dehydrogenase.…”

Section: Introductionmentioning

confidence: 99%

“…In this disease overproduction of oxalate leads to recurrent nephrolithiasis and less commonly to diffuse nephrocalcinosis. The disorder is the result of one of two enzymatic defects, both of which cause a markedly enhanced conversion of glyoxalate to poorly soluble oxalate which is then excreted in urine [1,2]. Glyoxalate, which is a precursor of oxalate, is normally converted to glycine, in a reaction which is catalyzed in part by the hepatic peroxisomal enzyme alanine/glyoxalate aminotransferase (AGT).…”

Section: Introductionmentioning

confidence: 99%

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Oxalate Kinetics and Reversal of the Complications after Orthotopic Liver Transplantation in a Patient with Primary Hyperoxalosis Type 1 Awaiting Renal Transplantation

Bastani¹,

Mistry²,

Nahass

et al. 1999

Am J Nephrol

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We present the case of a young woman with end-stage renal disease secondary to primary hyperoxaluria type 1, who after 3 years and 6 months of maintenance hemodialysis, and despite intensification of the dialytic treatment, developed severe livedo reticularis in her extremities leading to ischemic cutaneous ulcerations, necessitating continuous intravenous infusion of narcotics for pain control. She received a liver transplant after native hepatectomy. However, due to positive crossmatch, she could not receive a kidney from that donor. After transplantation, following serial serum oxalate levels, the hemodialysis regimen was safely reduced from 4 h daily to 3 h three times weekly. Over the course of 6 weeks after liver transplantation, her livedo reticularis resolved, the ischemic ulcers markedly improved, she was weaned off all pain medications, and her erythropoietin-resistant anemia resolved. Our results suggest that in patients with primary hyperoxaluria type 1, who have received a liver transplant and are on maintenance hemodialysis, after serial serum oxalate determinations, some may safely be changed to a thrice-weekly maintenance hemodialysis regimen. Moreover, with this regimen the complications of systemic oxalosis can reverse.

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Primary Hyperoxaluria

Cited by 5 publications

References 45 publications

Vitamin C Induced Oxalate Nephropathy

Vitamin C Induced Oxalate Nephropathy

Case report: Late onset warfarin-induced skin necrosis

Oxalate Kinetics and Reversal of the Complications after Orthotopic Liver Transplantation in a Patient with Primary Hyperoxalosis Type 1 Awaiting Renal Transplantation

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