primary hyperoxaluria

hyperoxaluria

 [hi″per-ok″sah-lu´re-ah]
an excess of oxalates in the urine, which can lead to formation of kidney stones. Called also oxaluria.
enteric hyperoxaluria formation of calcium oxalate calculi in the urinary tract, occurring after extensive resection or disease of the ileum, due to excessive absorption of oxalate from the colon.
primary hyperoxaluria an autosomal recessive disorder characterized by urinary excretion of oxalate, with nephrolithiasis, nephrocalcinosis, early onset of renal failure, and often a generalized deposit of calcium oxalate.

primary hyperoxaluria

Oxalosis An AR condition characterized by crystallization in tissues Clinical Calcium oxalate–CO is ↑↑↑ in urine, resulting in CO supersaturation crystalluria, stone formation, and deposition of CO in the renal parenchyma, leading to renal dysfunction and CO deposition in multiple organs–oxalosis Treatment Orthophosphate, pyridoxine Prognosis With therapy, actuarial ESRD-free survival at 20 yrs is ± 75%; sans therapy, 80% have ESRD by the 3rd decade of life; renal transplants do not survive well; liver transplants may be used to correct the enzyme defect

primary hyperoxaluria

An inherited metabolic disease caused by a defect in glyoxalate metabolism. This causes an increased secretion of oxalate in the urine, renal calculi, renal failure, and generalized deficit of oxalate crystals in tissues.
See also: hyperoxaluria

hyperoxaluria

an excess of oxalate in the urine; occurs in dogs in association with oxalate urolith formation.

primary hyperoxaluria
inherited metabolic defect in cats. Characterized by heavy deposits of oxalates in renal tubules, leading to oxalate nephrosis and fatal uremia before the patient reaches a year of age.
References in periodicals archive ?
Biopharmaceutical company OxThera AB revealed on Wednesday the randomization of the first patient suffering from Primary hyperoxaluria (PH) under its phase III EPHEX study with Oxabact.
Alnylam Pharmaceuticals (ALNY) announced that Sanofi Genzyme (SNY) has declined its opt-in for the development and commercialization of lumasiran, or ALN-GO1, an investigational RNAi therapeutic for the treatment of Primary Hyperoxaluria Type 1.
The inherited rare kidney stone disorders studied by the RKSC include cystinuria, primary hyperoxaluria, adenine phosphoribosyltransferase (APRT) deficiency, and Dent disease (see Table 1).
Tenders are invited for seeking support research that will ultimately lead to new diagnostics, treatments, and a cure for primary hyperoxaluria and related hyperoxaluria conditions.
Mutations to AGXT can lead to kidney stones and primary hyperoxaluria.
This is different from patients with CaOx stones but may occur in patients with primary hyperoxaluria.
In children, the most common causes for CLKT are congenital diseases affecting both liver and kidney, such as primary hyperoxaluria type 1 (PH1) and autosomal recessive polycystic kidney disease (ARPKD).
Late diagnosis of primary hyperoxaluria after failed kidney transplantation.
While several metabolic disorders, such as primary hyperparathyroidism, hereditary cystinuria, and primary hyperoxaluria are known to cause nephrolithiasis, most stones are idiopathic in nature (3,8).
In 2006, the Chronicle reported how tests at the RVI and in Birmingham, confirmed Stephen thankfully did not have the rare and life-threatening primary hyperoxaluria, but still needed transplants from his parents to survive.
Primary hyperoxaluria is an inherited disorder of carbohydrate metabolism.
Oxalate crystals may occur in the CSF with ethylene glycol poisoning or primary hyperoxaluria type 1.

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