Blar i Department of Clinical Medicine på forfatter "Tøndel, Camilla"
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Accumulation of Globotriaosylceramide in Podocytes in Fabry Nephropathy Is Associated with Progressive Podocyte Loss
Najafian, Behzad; Tøndel, Camilla; Svarstad, Einar; Gubler, Marie-Claire; Oliveira, Joao-Paulo; Mauer, Michael (Journal article; Peer reviewed, 2020)Background In males with classic Fabry disease, the processes leading to the frequent outcome of ESKD are poorly understood. Defects in the gene encoding α-galactosidase A lead to accumulation of globotriaosylceramide (GL3) ... -
Accumulation of α-synuclein mediates podocyte injury in Fabry nephropathy
Braun, Fabian; Abed, Ahmed; Sellung, Dominik; Rogg, Manuel; Woidy, Mathias; Eikrem, Øystein Solberg; Wanner, Nicola; Gambardella, Jessica; Laufer, Sandra; Haas, Fabian; Wong, Milagros; Dumoulin, Bernhard; Rischke, Paula; Mühlig, Anne; Sachs, Wiebke; von Cossel, Katharina M; Schulz, Kristina; Muschol, Nicole; Gersting, Sören; Muntau, Ania C.; Kretz, Oliver; Hahn, Oliver; Rinschen, Markus; Mauer, Michael; Bork, Tillmann; Grahammer, Florian; Liang, Wei; Eierhoff, Thorsten; Römer, Winfried; Hansen, Arne; Meyer-Schwesinger, Catherine; Iaccarino, Guido; Tøndel, Camilla; Marti, Hans Peter; Najafian, Behzad; Puelles, Victor G; Schell, Christoph; Huber, Tobias B (Journal article; Peer reviewed, 2023)Current therapies for Fabry disease are based on reversing intracellular accumulation of globotriaosylceramide (Gb3) by enzyme replacement therapy (ERT) or chaperone-mediated stabilization of the defective enzyme, thereby ... -
Accuracy of single intravenous access iohexol GFR in children is hampered by marker contamination
Eide, Thea Tislevoll; Hufthammer, Karl Ove; Brun, Atle; Brackman, Damien; Svarstad, Einar; Tøndel, Camilla (Journal article; Peer reviewed, 2021)Measurement of glomerular filtration rate (GFR) in children by iohexol injection and blood sampling from the contralateral arm is widely used. A single intravenous access for iohexol injection and subsequent blood sampling ... -
Cardiovascular changes in young renal failure patients
Tøndel, Camilla; Marti, Hans Peter (Journal article; Peer reviewed, 2021)Progresses in medical care of severe kidney disease and congenital anomalies of kidney and urinary tract make it possible for a higher percentage of young renal failure patients to survive and enter adulthood. There is ... -
Early start of enzyme replacement therapy in pediatric male patients with classical Fabry disease is associated with attenuated disease progression
van der Veen, Sanne; Körver, Simon; Hirsch, A; Hollak, Carla E.M.; Wijburg, Frits A; Brands, M; Tøndel, Camilla; Van Kuilenburg, André B.P.; Langeveld, Miriam (Journal article; Peer reviewed, 2022)Background Enzyme replacement therapy (ERT) slows disease progression of Fabry disease (FD), especially when initiated before the onset of irreversible organ damage. However, with the clinically asymptomatic progression ... -
Gene Expression Analysis in gla-Mutant Zebrafish Reveals Enhanced Ca2+ Signaling Similar to Fabry Disease
Elsaid, Hassan Osman Alhassan; Tjeldnes, Håkon; Rivedal, Mariell Lossius; Serre, Camille Julia; Eikrem, Øystein Solberg; Svarstad, Einar; Tøndel, Camilla; Marti, Hans Peter; Furriol, Jessica; Babickova, Janka (Journal article; Peer reviewed, 2022)Fabry disease (FD) is an X-linked inborn metabolic disorder due to partial or complete lysosomal α-galactosidase A deficiency. FD is characterized by progressive renal insufficiency and cardio- and cerebrovascular involvement. ... -
Growth Differentiation Factor 15 in Children with Chronic Kidney Disease and after Renal Transplantation
Thorsteinsdottir, Hjørdis; Salvador, Cathrin Lytomt; Mjøen, Geir; Lie, Anine; Sugulle, Meryam; Tøndel, Camilla; Brun, Atle; Almaas, Runar; Bjerre, Anna Kristina (Journal article; Peer reviewed, 2020)Growth differentiation factor 15 (GDF-15) is strongly associated with cardiovascular disease (CVD). The aim of our study was to evaluate plasma and urinary levels of GDF-15 after pediatric renal transplantation (Rtx) and ... -
Kidney biopsy diagnosis in childhood in the Norwegian Kidney Biopsy Registry and the long-term risk of kidney replacement therapy: a 25-year follow-up
Gjerstad, Ann Christin; Skrunes, Rannveig; Tøndel, Camilla; Åsberg, Anders; Leh, Sabine; Klingenberg, Claus Andreas; Døllner, Henrik; Hammarström, Clara Louise; Bjerre, Anna Kristina (Journal article; Peer reviewed, 2022)Background: There is scarce information on biopsy-verified kidney disease in childhood and its progression to chronic kidney disease stage 5 (CKD 5). This study aims to review biopsy findings in children, and to investigate ... -
Longevity of B-cell and T-cell responses after live attenuated influenza vaccination in children
Mohn, Kristin Greve-Isdahl; Bredholt, Geir; Brokstad, Karl Albert; Pathirana, Rishi; Aarstad, Hans Jørgen; Tøndel, Camilla; Cox, Rebecca Jane (Peer reviewed; Journal article, 2015-05-15)Background. The live attenuated influenza vaccine (LAIV) is the preferred vaccine for children, but the mechanisms behind protective immune responses are unclear, and the duration of immunity remains to be elucidated. This ... -
Low birthweight is associated with lower glomerular filtration rate in middle-aged mainly healthy women
Lillås, Bjørn Steinar; Tøndel, Camilla; Assmus, Jörg; Vikse, Bjørn Egil (Journal article; Peer reviewed, 2020)Background Low birthweight (LBW) has been shown to increase the risk of severe kidney disease. Studies have also shown associations between LBW and lower estimated glomerular filtration rate (GFR) in young adults. In this ... -
Measurement of renal functional response using iohexol clearance—a study of different outpatient procedures
Lillås, Bjørn Steinar; Tøndel, Camilla; Gjerde, Anna; Vikse, Bjørn Egil (Peer reviewed; Journal article, 2019)Background: Glomerular filtration rate (GFR) increases after a heavy protein load; an increase termed renal functional response (RFR). Decreased RFR could be a marker of early kidney damage, but published methods are ... -
Mosaicism of podocyte involvement is related to podocyte injury in females with Fabry disease
Mauer, Michael; Glynn, Emily; Svarstad, Einar; Tøndel, Camilla; Gubler, Marie-Claire; West, Michael; Sokolovskiy, Alexey; Whitley, Chester; Najafian, Behzad (Peer reviewed; Journal article, 2014-11-11)Background: Fabry disease. an X-linked deficiency of α-galactosidase A coded by the GLA gene, leads to intracellular globotriaosylceramide (GL-3) accumulation. Although less common than in males, chronic kidney disease, ... -
The pharmacokinetics, safety, and tolerability of mirabegron in children and adolescents with neurogenic detrusor overactivity or idiopathic overactive bladder and development of a population pharmacokinetic model-based pediatric dose estimation
Rittig, Søren; Baka-Ostrowska, Malgorzata; Tøndel, Camilla; Johan, Vande Walle; Kjaeer, Birgitta; Passier, Paul; Bosman, Brigitte; Stroosma, Otto; Tannenbaum, Stacey (Peer reviewed; Journal article, 2019-10-22)Introduction: Mirabegron, a selective β3-adrenoreceptor agonist, is a well-established alternative to antimuscarinics in adults with overactive bladder (OAB) symptoms and is under development for use in pediatric patients. ... -
Proteomic analysis unveils Gb3-independent alterations and mitochondrial dysfunction in a gla−/− zebrafish model of Fabry disease
Elsaid, Hassan Osman Alhassan; Rivedal, Mariell Lossius; Skandalou, Eleni; Svarstad, Einar; Tøndel, Camilla; Birkeland, Even; Eikrem, Øystein Solberg; Babickova, Janka; Marti, Hans Peter; Furriol, Jessica (Journal article; Peer reviewed, 2023)Background Fabry disease (FD) is a rare lysosomal storage disorder caused by mutations in the GLA gene, resulting in reduced or lack of α-galactosidase A activity. This results in the accumulation of globotriaosylceramide ... -
Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document
Biegstraaten, Marieke; Arngrímsson, R; Barbey, F; Boks, L; Cecchi, Franco; Deegan, PB; Feldt-Rasmussen, Ulla; Geberhiwot, T; Germain, DP; Hendriksz, C; Hughes, DA; Kantola, I; Karabul, N; Lavery, C; Linthorst, GE; Mehta, A; van de Mheen, E; Oliveira, JP; Parini, R; Ramaswami, Uma; Rudnicki, M; Serra, A; Sommer, Claudia; Sunder-Plassmann, G; Svarstad, Einar; Sweeb, A; Terryn, W; Tylki-Szymanska, A; Tøndel, Camilla; Vujkovac, B; Weidemann, Frank; Wijburg, FA; Woolfson, P; Hollak, CE. (Peer reviewed; Journal article, 2015-05-27)Introduction Fabry disease (FD) is a lysosomal storage disorder resulting in progressive nervous system, kidney and heart disease. Enzyme replacement therapy (ERT) may halt or attenuate disease progression. Since administration ... -
Reduced α-galactosidase A activity in zebrafish (Danio rerio) mirrors distinct features of Fabry nephropathy phenotype
Elsaid, Hassan Osman Alhassan; Furriol, Jessica; Blomqvist, Maria; Diswall, Mette; Leh, Sabine; Gharbi, Naouel; Anonsen, Jan Haug; Babickova, Janka; Tøndel, Camilla; Svarstad, Einar; Marti, Hans Peter; Krause, Maximilian (Journal article; Peer reviewed, 2022)Fabry disease (FD) is a rare genetic lysosomal storage disorder, resulting from partial or complete lack of alpha-galactosidase A (α-GAL) enzyme, leading to systemic accumulation of substrate glycosphingolipids with a broad ... -
Renal Functional Response-Association With Birth Weight and Kidney Volume
Lillås, Bjørn Steinar Demma; Tøndel, Camilla; Melsom, Toralf; Eriksen, Bjørn Odvar; Marti, Hans Peter; Vikse, Bjørn Egil (Journal article; Peer reviewed, 2023)Introduction: Renal functional response (RFR) is the acute increase in glomerular filtration rate (GFR) after a protein load. Low RFR is a marker of single nephron hyperfiltration. Low birth weight (LBW) is associated with ... -
Systems analyses of the Fabry kidney transcriptome and its response to enzyme replacement therapy identified and cross-validated enzyme replacement therapy-resistant targets amenable to drug repurposing
Delaleu, Nicolas; Marti, Hans Peter; Strauss, Philipp; Sekulic, Miroslav; Osman, Tarig Al-Hadi; Tøndel, Camilla; Skrunes, Rannveig; Leh, Sabine; Svarstad, Einar; Nowak, Albina; Gaspert, Ariana; Rusu, Elena; Kwee, Ivo; Rinaldi, Andrea; Flatberg, Arnar; Eikrem, Øystein Solberg (Journal article; Peer reviewed, 2023)Fabry disease is a rare disorder caused by variations in the alpha-galactosidase gene. To a degree, Fabry disease is manageable via enzyme replacement therapy (ERT). By understanding the molecular basis of Fabry nephropathy ...