dc.contributor.author
Kempf, Caroline
dc.contributor.author
Pfau, Anja
dc.contributor.author
Holle, Johannes
dc.contributor.author
Müller-Schlüter, Karen
dc.contributor.author
Bufler, Philip
dc.contributor.author
Knauf, Felix
dc.contributor.author
Müller, Dominik
dc.date.accessioned
2022-09-12T15:29:41Z
dc.date.available
2022-09-12T15:29:41Z
dc.identifier.uri
https://refubium.fu-berlin.de/handle/fub188/36270
dc.identifier.uri
http://dx.doi.org/10.17169/refubium-35986
dc.description.abstract
Background: Primary hyperoxaluria type 1 (PH1) is a multisystemic metabolic disorder caused by an excessive production of oxalate by the liver. The majority of patients presenting in early infancy have end-stage renal disease (ESRD). While awaiting the results of sRNAi trials, the current standard treatment is combined liver-kidney transplantation. Recently, Stiripentol has been reported as a promising drug in the treatment of primary hyperoxaluria by reducing urinary oxalate (UOx). Stiripentol is an anti-convulsive drug used in the treatment of children suffering from Dravet syndrome. It causes blockage of the last step in oxalate production by inhibition of hepatic lactate dehydrogenase 5 (LDH5).
Case: We administered Stiripentol as compassionate use in an anuric infant with dialysis-dependent PH1 over a period of 4 months. Although achieving plasma concentrations of Stiripentol that were recently reported to lower UOx excretion, we did not observe significant reduction to plasma oxalate concentrations (POx).
Conclusion: We conclude that Stiripentol may not be useful to reduce POx in PH patients with advanced chronic kidney disease (CKD), but larger studies are needed to confirm this finding.
en
dc.rights.uri
https://creativecommons.org/licenses/by/4.0/
dc.subject
Hyperoxaluria
en
dc.subject
Metabolic disorders
en
dc.subject
End-stage renal disease
en
dc.subject.ddc
600 Technik, Medizin, angewandte Wissenschaften::610 Medizin und Gesundheit::610 Medizin und Gesundheit
dc.title
Stiripentol fails to lower plasma oxalate in a dialysis-dependent PH1 patient
dc.type
Wissenschaftlicher Artikel
dcterms.bibliographicCitation.doi
10.1007/s00467-020-04585-5
dcterms.bibliographicCitation.journaltitle
Pediatric Nephrology
dcterms.bibliographicCitation.originalpublishername
Springer Nature
dcterms.bibliographicCitation.pagestart
1787
dcterms.bibliographicCitation.pageend
1789
dcterms.bibliographicCitation.volume
35
refubium.affiliation
Charité - Universitätsmedizin Berlin
refubium.funding
Springer Nature DEAL
refubium.resourceType.isindependentpub
no
dcterms.accessRights.openaire
open access
dcterms.bibliographicCitation.pmid
32418144
dcterms.isPartOf.issn
0931-041X
dcterms.isPartOf.eissn
1432-198X