Blar i Department of Clinical Medicine på forfatter "Svarstad, Einar"
-
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) ... -
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 ... -
Addition of eGFR and age improves the prognostic absolute renal risk-model in 1,134 norwegian patients with IgA nephropathy
Knoop, Thomas; Vågane, Ann Merethe; Vikse, Bjørn Egil; Svarstad, Einar; Magnusdottir, Bergrun Tinna; Leh, Sabine Maria; Reisæter, Anna Varberg; Bjørneklett, Rune (Peer reviewed; Journal article, 2015-05)Background: Predicting outcome in individual patients with IgA nephropathy (IgAN) is difficult but important. For this purpose, the absolute renal risk (ARR) model has been developed in a French cohort to calculate the ... -
Case Report: Polyvinylpyrrolidone deposition disease from repeated injection of opioid substitution drugs: Report of a case with a fatal outcome
Stalund, Ida Viken; Riise, Gro Nygard; Leh, Friedemann; Bjånes, Tormod Karlsen; Riise, Lars; Svarstad, Einar; Leh, Sabine (Journal article; Peer reviewed, 2021)Background: Intravenous injection of oral opioid substitution drugs (OSD) is widespread among injecting drug users. Several OSDs contain the polymer polyvinylpyrrolidone (PVP) as an excipient. Parenterally administered PVP ... -
The changing landscape of Fabry disease
Svarstad, Einar; Marti, Hans-Peter (Journal article; Peer reviewed, 2020) -
Chronic Kidney Disease from Polyvinylpyrrolidone Deposition in Persons with Intravenous Drug Use
Stalund, Ida Viken; Grønseth, Heidi Lønne; Reinholt, Finn P.; Svarstad, Einar; Marti, Hans Peter; Leh, Sabine (Journal article; Peer reviewed, 2022)Background and objectives: Persons with intravenous drug use have a higher risk of developing CKD compared with the general population. In Norway, deposits of polyvinylpyrrolidone have been observed in kidney biopsies taken ... -
Developing nephrology services in low income countries: A case of Tanzania
Furia, Francis F.; Shoo, Jacqueline; Ruggajo, Paschal Joseph; Kilonzo, Kajiru; Basu, Gopal; Yeates, Karen; Varughese, Santosh; Svarstad, Einar; Kisanga, Onesmo (Peer reviewed; Journal article, 2019-10-17)Background: The burden of kidney diseases is reported to be higher in lower- and middle-income countries as compared to developed countries, and countries in sub-Saharan Africa are reported to be most affected. Health ... -
Early indicators of disease progression in Fabry disease that may indicate the need for disease-specific treatment initiation: Findings from the opinion-based PREDICT-FD modified Delphi consensus initiative
Hughes, Derralynn A.; Aguiar, Patricio; Deegan, Patrick B; Ezgu, Fatih; Frustaci, Andrea; Lidove, Olivier; Linhart, Aleš; Lubanda, Jean-Claude; Moon, James C; Nicholls, Kathleen; Niu, Dau-Ming; Nowak, Albina; Ramaswami, Uma; Reisin, Ricardo; Rozenfeld, Paula; Schiffmann, Raphael; Svarstad, Einar; Thomas, Mark; Torra, Roser; Vujkovac, Bojan; Warnock, David G.; West, Michael L; Johnson, Jack; Rolfe, Mark J; Feriozzi, Sandro (Journal article; Peer reviewed, 2020)Objectives The PRoposing Early Disease Indicators for Clinical Tracking in Fabry Disease (PREDICT-FD) initiative aimed to reach consensus among a panel of global experts on early indicators of disease progression that may ... -
Elevated Ambulatory Blood Pressure Measurements are Associated with a Progressive Form of Fabry Disease
Rossi, Federica; Svarstad, Einar; Elsaid, Hassan; Binaggia, Agnese; Roggero, Letizia; Auricchio, Sara; Marti, Hans-Peter; Pieruzzi, Federico (Journal article; Peer reviewed, 2021)Introduction Published data on hypertension incidence and management in Anderson–Fabry disease are scant and the contribution of elevated blood pressure to organ damage is not well recognized. Aim Therefore, we have ... -
End Stage Renal Disease Predicts Increased Risk of Death in First Degree Relatives in the Norwegian Population
Skrunes, Rannveig; Svarstad, Einar; Reisæter, Anna Varberg; Marti, Hans-Petter; Vikse, Bjørn Egil (Peer reviewed; Journal article, 2016-11-09)Background: Increased risk of end stage renal disease (ESRD) and death in Norwegian living kidney donors has been reported, most of the donors were related to the recipient. The present study investigates risk of death in ... -
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. ... -
Low birth weight and risk of progression to end stage renal disease in IgA nephropathy - A retrospective registry-based cohort study
Ruggajo, Paschal Joseph; Svarstad, Einar; Leh, Sabine Maria; Marti, Hans-Peter; Reisæter, Anna Varberg; Vikse, Bjørn Egil (Peer reviewed; Journal article, 2016-04-19)Background: Low Birth Weight (LBW) is a surrogate for fetal undernutrition and is associated with impaired nephron development in utero. In this study, we investigate whether having been born LBW and/or small for gestational ... -
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, ... -
Polyvinylpyrrolidone deposition disease in patients with intravenous opioid use: a case series
Leh, Friedemann; Stalund, Ida Viken; Bjånes, Tormod Karlsen; Ohldieck, Christian; Svarstad, Einar; Leh, Sabine (Journal article; Peer reviewed, 2021)The polymer polyvinylpyrrolidone (PVP) is an excipient widely used in prescription drugs. Depending on the molecular weight (MW), parenterally administered PVP may accumulate in various tissues. Consequently, moderate and ... -
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 ... -
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 ...