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Genetics of Primary Hyperoxaluria


Leumann, Ernst P; Schinzel, Albert (1990). Genetics of Primary Hyperoxaluria. In: Spitzer, Adrian; Avner, Ellis A. Inheritance of kidney and urinary tract diseases. Boston: Springer Dordrecht, 317-323.

Abstract

Primary hyperoxaluria (PH) is a rare inborn error of metabolism characterized by increased production of oxalate and glycolate [1]. Urinary excretion of oxalate always exceeds 100 mg (1.1 mmol), and usually 200 mg (2.2 mmol) per day, as compared to less than 45 mg (0.5 mmol) in normals [1]. Elevated urinary excretion of oxalate not only leads to formation of calcium oxalate stones and to repeated attacks of renal colics, but also results in crystal deposition in the renal interstitium, which induces fibrosis and nephrocalcinosis. Renal damage, in turn, leads to oxalate retention and involvement of other organs, primarily of the bones, the arteries, the cardiac conduction system, the retina, and the neuromuscular system. Two types of PH have been described, of which type I (glycolic aciduria) is much more common than type II (L-glyceric aciduria) [2]. The discussion will therefore focus on PH type I. Apart from these two types, there appears to exist yet another variety of PH, in which the urinary excretion of both glycolate and glycerate are normal [3–5].

Abstract

Primary hyperoxaluria (PH) is a rare inborn error of metabolism characterized by increased production of oxalate and glycolate [1]. Urinary excretion of oxalate always exceeds 100 mg (1.1 mmol), and usually 200 mg (2.2 mmol) per day, as compared to less than 45 mg (0.5 mmol) in normals [1]. Elevated urinary excretion of oxalate not only leads to formation of calcium oxalate stones and to repeated attacks of renal colics, but also results in crystal deposition in the renal interstitium, which induces fibrosis and nephrocalcinosis. Renal damage, in turn, leads to oxalate retention and involvement of other organs, primarily of the bones, the arteries, the cardiac conduction system, the retina, and the neuromuscular system. Two types of PH have been described, of which type I (glycolic aciduria) is much more common than type II (L-glyceric aciduria) [2]. The discussion will therefore focus on PH type I. Apart from these two types, there appears to exist yet another variety of PH, in which the urinary excretion of both glycolate and glycerate are normal [3–5].

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Additional indexing

Item Type:Book Section, refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute of Medical Genetics
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Uncontrolled Keywords:Genetics, Genetics (clinical),
Language:English
Date:1990
Deposited On:11 Jun 2024 10:13
Last Modified:12 Jun 2024 03:29
Publisher:Springer Dordrecht
Series Name:Topics in renal medicine
ISSN:0924-6177
ISBN:9781461288879
OA Status:Closed
Publisher DOI:https://doi.org/10.1007/978-1-4613-1603-9_16
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