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Erschienen in: International Urology and Nephrology 3/2010

01.09.2010 | Nephrology - Case Report

Late diagnosis of primary hyperoxaluria after failed kidney transplantation

verfasst von: Goce Spasovski, Bodo B. Beck, Nenad Blau, Bernd Hoppe, Velibor Tasic

Erschienen in: International Urology and Nephrology | Ausgabe 3/2010

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Abstract

Primary hyperoxaluria type 1 (PH1) is a rare autosomal recessive inborn error of the glyoxylate metabolism that is based on absence, deficiency or mislocalization of the liver-specific peroxisomal enzyme alanine:glyoxylate aminotransferase. Hyperoxaluria leads to recurrent formation of calculi and/or nephrocalcinosis and often early end-stage renal disease (ESRD) accompanied by systemic calcium oxalate crystal deposition. In this report, we describe an adult female patient with only one stone passage before development of ESRD. With unknown diagnosis of PH, the patient received an isolated kidney graft and developed an early onset of graft failure. Although initially presumed as an acute rejection, the biopsy revealed calcium oxalate crystals, which then raised a suspicion of primary hyperoxaluria. The diagnosis was later confirmed by hyperoxaluria, elevated plasma oxalate levels and mutation of the AGXT gene, showing the patient to be compound heterozygous for the c.33_34InsC and c.508G > A mutations. Plasma oxalate levels did not decrease after high-dose pyridoxine treatment. Based on this case report, we would recommend in all patients even with a minor history of nephrolithiasis but progression to chronic renal failure to exclude primary hyperoxaluria before isolated kidney transplantation is considered.
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Metadaten
Titel
Late diagnosis of primary hyperoxaluria after failed kidney transplantation
verfasst von
Goce Spasovski
Bodo B. Beck
Nenad Blau
Bernd Hoppe
Velibor Tasic
Publikationsdatum
01.09.2010
Verlag
Springer Netherlands
Erschienen in
International Urology and Nephrology / Ausgabe 3/2010
Print ISSN: 0301-1623
Elektronische ISSN: 1573-2584
DOI
https://doi.org/10.1007/s11255-009-9690-2

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