Mutations in Genes Encoding Subunits of the RNA Exosome as a Potential Novel Cause of Thrombotic Microangiopathy

Autor: Kioa L. Wijnsma, Anne M. Schijvens, Romy N. Bouwmeester, Lonneke A. M. Aarts, Lambertus (Bert) P. van den Heuvel, Charlotte A. Haaxma, Nicole C. A. J. van de Kar

Publikováno v: International Journal of Molecular Sciences, Vol 25, Iss 14, p 7604 (2024)

Thrombotic microangiopathy (TMA) in association with RNA exosome encoding mutations has only recently been recognized. Here, we present an infant (female) with an EXOSC5 mutation (c.230_232del p.Glu77del) associated with the clinical phenotype known

Externí odkaz: https://doaj.org/article/11bad0d79b564a77b0aaa3a179eb8d44

COVID-19 vaccination and Atypical hemolytic uremic syndrome

Autor: Romy N. Bouwmeester, Esther M.G. Bormans, Caroline Duineveld, Arjan D. van Zuilen, Anne-Els van de Logt, Jack F.M. Wetzels, Nicole C.A.J. van de Kar

Publikováno v: Frontiers in Immunology, Vol 13 (2022)

IntroductionCOVID-19 vaccination has been associated with rare but severe complications characterized by thrombosis and thrombocytopenia.Methods and ResultsHere we present three patients who developed de novo or relapse atypical hemolytic uremic synd

Externí odkaz: https://doaj.org/article/d77bdd77ffaa46b19248ab2d98b4f6f6

Eculizumab Rescue Therapy in Patients With Recurrent Atypical Hemolytic Uremic Syndrome After Kidney Transplantation

Autor: Caroline Duineveld, Romy N. Bouwmeester, Kioa L. Wijnsma, F.J. Bemelman, J.W. van der Heijden, S.P. Berger, L.P.W.J. van den Heuvel, Nicole C.A.J. van de Kar, Jack F.M. Wetzels, A.D. van Zuijlen, Dr.SP. Berger, J. van de Wetering, A.P.J. de Vries, J.F.M. Wetzels, J.A.E. van Wijk, A.H.M. Bouts, E.M. Dorresteijn, V. Gracchi, F.A.P.T. Horuz-Engels, M.G. Keijzer-Veen, R.W.G. van Rooij, N.C.A.J. van de Kar, L.P. van den Heuvel

Publikováno v: Kidney International Reports, 8, 715-726
Kidney International Reports, 8(4), 715-726. ELSEVIER SCIENCE INC
the Dutch aHUS Working Group 2023, ' Eculizumab Rescue Therapy in Patients With Recurrent Atypical Hemolytic Uremic Syndrome After Kidney Transplantation ', Kidney International Reports, vol. 8, no. 4, pp. 715-726 . https://doi.org/10.1016/j.ekir.2023.01.016
Kidney Int Rep
Kidney International Reports, 8, 4, pp. 715-726
Kidney International Reports, 8(4), 715-726. Elsevier Inc.

Introduction: Since 2016, kidney transplantation in patients with atypical hemolytic uremic syndrome (aHUS) in the Netherlands is performed without eculizumab prophylaxis. Eculizumab is given in case of posttransplant aHUS recurrence. Eculizumab ther

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7865deffdd1dcfa0e4e75f5c72df14cf
http://hdl.handle.net/2066/292465

Case Report: Variable Pharmacokinetic Profile of Eculizumab in an aHUS Patient

Autor: Lambertus P. van den Heuvel, Jack F.M. Wetzels, Caroline Duineveld, Nicole C. A. J. van de Kar, Elena B. Volokhina, Mendy Ter Avest, Rob ter Heine, Romy N. Bouwmeester, Kioa L. Wijnsma

Publikováno v: Frontiers in Immunology, Vol 11 (2021)
Frontiers in Immunology, 11
Frontiers in Immunology

BackgroundWith the introduction of eculizumab, a C5-inhibitor, morbidity and mortality improved significantly for patients with atypical hemolytic uremic syndrome (aHUS). In view of the high costs, actual needs of the drug, and increasing evidence in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f18573eb3e2104198ce9c2f922660f28
https://www.frontiersin.org/articles/10.3389/fimmu.2020.612706/full

Outcome of atypical haemolytic uraemic syndrome relapse after eculizumab withdrawal

Autor: Jack F.M. Wetzels, Joost W van der Heijden, Stefan P Berger, Romy N. Bouwmeester, Caroline Duineveld, Nicole C. A. J. van de Kar

Publikováno v: Clinical Kidney Journal
Clinical Kidney Journal, 14, 1939-1945
Clinical Kidney Journal, 14(8), 1939-1945. Oxford Univ. Press, New York
Clinical Kidney Journal, 14, 8, pp. 1939-1945

Background The introduction of eculizumab has significantly improved the outcome of patients with atypical haemolytic uraemic syndrome (aHUS). Because of the risk of relapse after discontinuation, eculizumab was proposed as life-long therapy. However

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43a911f58c2ecb6631d3078adccf11b5
https://pubmed.ncbi.nlm.nih.gov/34631043