Kidney stones in primary hyperoxaluria: new lessons learnt.

Autor: Dorrit E Jacob, Bernd Grohe, Michaela Geßner, Bodo B Beck, Bernd Hoppe

Publikováno v: PLoS ONE, Vol 8, Iss 8, p e70617 (2013)

To investigate potential differences in stone composition with regard to the type of Primary Hyperoxaluria (PH), and in relation to the patient's medical therapy (treatment naïve patients versus those on preventive medication) we examined twelve kid

Externí odkaz: https://doaj.org/article/a64dffb41174411f885f2a702f1d7dab

Clinical practice recommendations for primary hyperoxaluria: an expert consensus statement from ERKNet and OxalEurope

Autor: Jaap W. Groothoff, Ella Metry, Lisa Deesker, Sander Garrelfs, Cecile Acquaviva, Reham Almardini, Bodo B. Beck, Olivia Boyer, Rimante Cerkauskiene, Pietro Manuel Ferraro, Luitzen A. Groen, Asheeta Gupta, Bertrand Knebelmann, Giorgia Mandrile, Shabbir S. Moochhala, Agnieszka Prytula, Jovana Putnik, Gill Rumsby, Neveen A. Soliman, Bhaskar Somani, Justine Bacchetta

Publikováno v: Nature reviews. Nephrology, 19(3), 194-211. Nature Publishing Group
Nat Rev Nephrol
ISSN

Primary hyperoxaluria (PH) is an inherited disorder that results from the overproduction of endogenous oxalate, leading to recurrent kidney stones, nephrocalcinosis and eventually kidney failure; the subsequent storage of oxalate can cause life-threa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5f447c83d0936f643cfc69826ac7d26
https://pure.amc.nl/en/publications/clinical-practice-recommendations-for-primary-hyperoxaluria(ab09f0b8-3434-4c08-918c-81ddf53300b3).html

Lifelong effect of therapy in young patients with the COL4A5 Alport missense variant p.(Gly624Asp): a prospective cohort study

Autor: Jan Boeckhaus, Julia Hoefele, Korbinian M Riedhammer, Mato Nagel, Bodo B Beck, Mira Choi, Maik Gollasch, Carsten Bergmann, Joseph E Sonntag, Victoria Troesch, Johanna Stock, Oliver Gross

Publikováno v: Nephrology Dialysis Transplantation. 37:2496-2504

Background Angiotensin-converting enzyme inhibitors (ACEis) have evolved as a first-line therapy for delaying end-stage renal failure (ESRF) in Alport syndrome (AS). The present study tested the hypothesis of a superior nephroprotective potential of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe291eff8b7773541c06b5d650a08298
https://doi.org/10.1093/ndt/gfac006

mTOR-Activating Mutations in RRAGD Are Causative for Kidney Tubulopathy and Cardiomyopathy

Autor: Anukrati Nigam, Deborah P. Jones, Martin Konrad, Claudia Dafinger, Karin Klingel, Stéphane Burtey, Francisco J. Arjona, David M. Sabatini, Carsten Bergmann, Eric Schulze-Bahr, Caro Bos, Pascal Houillier, Rosa Vargas-Poussou, Mehmet Eltan, Holger Thiele, Alina Braun, Tulay Guran, Nine V A M Knoers, Jeroen H. F. de Baaij, Janine Altmüller, Max C. Liebau, Karin Dahan, Nathalie Godefroid, Jun Oh, François Jouret, Holger Rehmann, Felix Kleinerüschkamp, Maria Ibars Serra, Bodo B. Beck, Bernhard Schermer, Karl P. Schlingmann, Kirsten Y. Renkema, Fried J. T. Zwartkruis, Kuang Shen, Jens König, Marie-Christine Parotte

Publikováno v: Journal of the American Society of Nephrology, 32(11). AMER SOC NEPHROLOGY
Journal of the American Society of Nephrology, Vol. 32, no.11, p. 2885-2899 (2021)
Journal of the American Society of Nephrology, 32, 11, pp. 2885-2899
J Am Soc Nephrol
Journal of the American Society of Nephrology, 32, 2885-2899

Contains fulltext : 244896.pdf (Publisher’s version ) (Closed access) BACKGROUND: Over the last decade, advances in genetic techniques have resulted in the identification of rare hereditary disorders of renal magnesium and salt handling. Neverthele

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8850e8d2efcd78ef50a2a9c7c2c8c5de
https://doi.org/10.1681/asn.2021030333

The retinal phenotype in primary hyperoxaluria type 2 and 3

Autor: Johannes Birtel, Roselie M. Diederen, Philipp Herrmann, Sophie Kaspar, Bodo B. Beck, Sander F. Garrelfs, Bernd Hoppe, Peter Charbel Issa

Publikováno v: Birtel, J, Diederen, R M, Herrmann, P, Kaspar, S, Beck, B B, Garrelfs, S F, Hoppe, B & Charbel Issa, P 2022, ' The retinal phenotype in primary hyperoxaluria type 2 and 3 ', Pediatric Nephrology . https://doi.org/10.1007/s00467-022-05765-1
Pediatric Nephrology. Springer Verlag
Pediatric nephrology (Berlin, Germany). Springer Verlag

Background The primary hyperoxalurias (PH1-3) are rare inherited disorders of the glyoxylate metabolism characterized by endogenous overproduction of oxalate. As oxalate cannot be metabolized by humans, oxalate deposits may affect various organs, pri

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0fd069a9cafa45562c4dd3af9fb53e6
https://doi.org/10.1007/s00467-022-05765-1