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2. Tyrosine Metabolism

Author

van Spronsen, Francjan J., Burlina, Alberto, Dionisi Vici, Carlo, Blau, Nenad, editor, Dionisi Vici, Carlo, editor, Ferreira, Carlos R., editor, Vianey-Saban, Christine, editor, and van Karnebeek, Clara D. M., editor

Published
2022
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7. Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficiencies

Author

Schwahn, Bernd C., primary, van Spronsen, Francjan, additional, Misko, Albert, additional, Pavaine, Julija, additional, Holmes, Victoria, additional, Spiegel, Ronen, additional, Schwarz, Guenter, additional, Wong, Flora, additional, Horman, Alistair, additional, Pitt, James, additional, Sass, Jörn Oliver, additional, and Lubout, Charlotte, additional

Published
2024
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9. High-dose ERT, rituximab, and early HSCT in an infant with Wolman’s disease

Author

MS Algemene Pediatrie Onderzoek 2, UMC Krant, SCT patientenzorg, Child Health, Infection & Immunity, Regenerative Medicine and Stem Cells, Metabole ziekten patientenzorg, Eskandari, Siawosh K., Revenich, Elisabeth G.M., Pot, Dirk J., de Boer, Foekje, Bierings, Marc, van Spronsen, Francjan J., van Hasselt, Peter M., Lindemans, Caroline A., Lubout, Charlotte M.A., MS Algemene Pediatrie Onderzoek 2, UMC Krant, SCT patientenzorg, Child Health, Infection & Immunity, Regenerative Medicine and Stem Cells, Metabole ziekten patientenzorg, Eskandari, Siawosh K., Revenich, Elisabeth G.M., Pot, Dirk J., de Boer, Foekje, Bierings, Marc, van Spronsen, Francjan J., van Hasselt, Peter M., Lindemans, Caroline A., and Lubout, Charlotte M.A.

Published
2024

10. Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy

Author

Genetica Sectie Metabole Diagnostiek, Child Health, Kiewiet, Gea, Westra, Dineke, de Boer, Eddy N, van Berkel, Emma, Hofste, Tom G J, van Zweeden, Martine, Derks, Ronny C, Leijsten, Nico F A, Ruiterkamp-Versteeg, Martina H A, Charbon, Bart, Johansson, Lennart, Bos-Kruizinga, Janneke, Veenstra, Inge J, de Sain-van der Velden, Monique G M, Voorhoeve, Els, Heiner-Fokkema, M Rebecca, van Spronsen, Francjan, Sikkema-Raddatz, Birgit, Nelen, Marcel, Genetica Sectie Metabole Diagnostiek, Child Health, Kiewiet, Gea, Westra, Dineke, de Boer, Eddy N, van Berkel, Emma, Hofste, Tom G J, van Zweeden, Martine, Derks, Ronny C, Leijsten, Nico F A, Ruiterkamp-Versteeg, Martina H A, Charbon, Bart, Johansson, Lennart, Bos-Kruizinga, Janneke, Veenstra, Inge J, de Sain-van der Velden, Monique G M, Voorhoeve, Els, Heiner-Fokkema, M Rebecca, van Spronsen, Francjan, Sikkema-Raddatz, Birgit, and Nelen, Marcel

Published
2024

11. Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficiencies

Author

Schwahn, Bernd C., van Spronsen, Francjan, Misko, Albert, Pavaine, Julija, Holmes, Victoria, Spiegel, Ronen, Schwarz, Guenter, Wong, Flora, Horman, Alistair, Pitt, James, Sass, Jörn Oliver, Lubout, Charlotte, Schwahn, Bernd C., van Spronsen, Francjan, Misko, Albert, Pavaine, Julija, Holmes, Victoria, Spiegel, Ronen, Schwarz, Guenter, Wong, Flora, Horman, Alistair, Pitt, James, Sass, Jörn Oliver, and Lubout, Charlotte

Abstract

Sulfite intoxication is the hallmark of four ultrarare disorders that are caused by impaired sulfite oxidase activity due to genetic defects in the synthesis of the molybdenum cofactor or of the apoenzyme sulfite oxidase. Delays on the diagnosis of these disorders are common and have been caused by their unspecific presentation of acute neonatal encephalopathy with high early mortality, followed by the evolution of dystonic cerebral palsy and also by the lack of easily available and reliable diagnostic tests. There is significant variation in survival and in the quality of symptomatic management of affected children. One of the four disorders, molybdenum cofactor deficiency type A (MoCD-A) has recently become amenable to causal treatment with synthetic cPMP (fosdenopterin). The evidence base for the rational use of cPMP is very limited. This prompted the formulation of these clinical guidelines to facilitate diagnosis and support the management of patients. The guidelines were developed by experts in diagnosis and treatment of sulfite intoxication disorders. It reflects expert consensus opinion and evidence from a systematic literature search.

Published
2024

12. Efficacy and safety of sapropterin before and during pregnancy: Final analysis of the Kuvan® Adult Maternal Paediatric European Registry (KAMPER) maternal and Phenylketonuria Developmental Outcomes and Safety (PKUDOS) PKU‐MOMs sub‐registries

Author

Feillet, François, Ficicioglu, Can, Lagler, Florian B., Longo, Nicola, Muntau, Ania C., Burlina, Alberto, Trefz, Friedrich K., van Spronsen, Francjan J., Arnoux, Jean‐Baptiste, Lindstrom, Kristin, Lilienstein, Joshua, Clague, Gillian E., Rowell, Richard, and Burton, Barbara K.

Abstract

Infants born to mothers with phenylketonuria (PKU) may develop congenital abnormalities because of elevated phenylalanine (Phe) levels in the mother during pregnancy. Maintenance of blood Phe levels between 120 and 360 μmol/L reduces risks of birth defects. Sapropterin dihydrochloride helps maintain blood Phe control, but there is limited evidence on its risk–benefit ratio when used during pregnancy. Data from the maternal sub‐registries—KAMPER (NCT01016392) and PKUDOS (NCT00778206; PKU‐MOMs sub‐registry)—were collected to assess the long‐term safety and efficacy of sapropterin in pregnant women in a real‐life setting. Pregnancy and infant outcomes, and the safety of sapropterin were assessed. Final data from 79 pregnancies in 57 women with PKU are reported. Sapropterin dose was fairly constant before and during pregnancy, with blood Phe levels maintained in the recommended target range during the majority (82%) of pregnancies. Most pregnancies were carried to term, and the majority of liveborn infants were reported as 'normal' at birth. Few adverse and serious adverse events were considered related to sapropterin, with these occurring in participants with high blood Phe levels. This report represents the largest population of pregnant women with PKU exposed to sapropterin. Results demonstrate that exposure to sapropterin during pregnancy was well‐tolerated and facilitated maintenance of blood Phe levels within the target range, resulting in normal delivery. This critical real‐world data may facilitate physicians and patients to make informed treatment decisions about using sapropterin in pregnant women with PKU and in women of childbearing age with PKU who are responsive to sapropterin. [ABSTRACT FROM AUTHOR]

Published
2024
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15. A False-Negative Newborn Screen for Tyrosinemia Type 1—Need for Re-Evaluation of Newborn Screening with Succinylacetone

Author

Dijkstra, Allysa M., primary, Evers-van Vliet, Kimber, additional, Heiner-Fokkema, M. Rebecca, additional, Bodewes, Frank A. J. A., additional, Bos, Dennis K., additional, Zsiros, József, additional, van Aerde, Koen J., additional, Koop, Klaas, additional, van Spronsen, Francjan J., additional, and Lubout, Charlotte M. A., additional

Published
2023
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17. Phenylketonuria

Author

van Spronsen, Francjan J., Blau, Nenad, Harding, Cary, Burlina, Alberto, Longo, Nicola, and Bosch, Annet M.

Published
2021
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18. Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency

Author

van Rijt, Willemijn J., Jager, Emmalie A., Allersma, Derk P., Aktuğlu Zeybek, A. Çiğdem, Bhattacharya, Kaustuv, Debray, François-Guillaume, Ellaway, Carolyn J., Gautschi, Matthias, Geraghty, Michael T., Gil-Ortega, David, Larson, Austin A., Moore, Francesca, Morava, Eva, Morris, Andrew A., Oishi, Kimihiko, Schiff, Manuel, Scholl-Bürgi, Sabine, Tchan, Michel C., Vockley, Jerry, Witters, Peter, Wortmann, Saskia B., van Spronsen, Francjan, Van Hove, Johan L. K., and Derks, Terry G. J.

Published
2020
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21. Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy.

Author

Kiewiet, Gea, Westra, Dineke, de Boer, Eddy N., van Berkel, Emma, Hofste, Tom G. J., van Zweeden, Martine, Derks, Ronny C., Leijsten, Nico F. A., Ruiterkamp-Versteeg, Martina H. A., Charbon, Bart, Johansson, Lennart, Bos-Kruizinga, Janneke, Veenstra, Inge J., de Sain-van der Velden, Monique G. M., Voorhoeve, Els, Heiner-Fokkema, M. Rebecca, van Spronsen, Francjan, Sikkema-Raddatz, Birgit, and Nelen, Marcel

Published
2024
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22. A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening

Author

Veldman, Abigail, primary, Kiewiet, M. B. Gea, additional, Westra, Dineke, additional, Bosch, Annet M., additional, Brands, Marion M. G., additional, de Coo, René I. F. M., additional, Derks, Terry G. J., additional, Fuchs, Sabine A., additional, van den Hout, Johanna. M. P., additional, Huidekoper, Hidde H., additional, Kluijtmans, Leo A. J., additional, Koop, Klaas, additional, Lubout, Charlotte M. A., additional, Mulder, Margaretha F., additional, Panis, Bianca, additional, Rubio-Gozalbo, M. Estela, additional, de Sain-van der Velden, Monique G., additional, Schaefers, Jaqueline, additional, Schreuder, Andrea B., additional, Visser, Gepke, additional, Wevers, Ron A., additional, Wijburg, Frits A., additional, Heiner-Fokkema, M. Rebecca, additional, and van Spronsen, Francjan J., additional

Published
2023
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24. What Is the Best Blood Sampling Time for Metabolic Control of Phenylalanine and Tyrosine Concentrations in Tyrosinemia Type 1 Patients?

Author

van Dam, Esther, Daly, Anne, Venema-Liefaard, Gineke, van Rijn, Margreet, Derks, Terry G. J., McKiernan, Patrick J., Rebecca Heiner-Fokkema, M., MacDonald, Anita, van Spronsen, Francjan J., Baumgartner, Matthias R., Series editor, Patterson, Marc, Series editor, Rahman, Shamima, Series editor, Peters, Verena, Series editor, Morava, Eva, Editor-in-chief, Zschocke, Johannes, Series editor, and Baumgartner, Matthias, editor

Published
2017
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25. Reliable Diagnosis of Carnitine Palmitoyltransferase Type IA Deficiency by Analysis of Plasma Acylcarnitine Profiles

Author

Heiner-Fokkema, M. Rebecca, Vaz, Frédéric M., Maatman, Ronald, Kluijtmans, Leo A. J., van Spronsen, Francjan J., Reijngoud, Dirk-Jan, Baumgartner, Matthias R., Series editor, Patterson, Marc, Series editor, Rahman, Shamima, Series editor, Peters, Verena, Series editor, Morava, Eva, Editor-in-chief, Zschocke, Johannes, Series editor, and Baumgartner, Matthias, editor

Published
2017
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26. Dietary Considerations in Tyrosinemia Type I

Author

van Spronsen, Francjan J., van Rijn, Margreet, Meyer, Uta, Das, Anibh M., COHEN, IRUN R., Series editor, LAJTHA, ABEL, Series editor, LAMBRIS, JOHN D., Series editor, PAOLETTI, RODOLFO, Series editor, and Tanguay, Robert M., editor

Published
2017
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28. Liver Cancer in Tyrosinemia Type 1

Author

van Ginkel, Willem G., Pennings, Jan P., van Spronsen, Francjan J., COHEN, IRUN R., Series editor, LAJTHA, ABEL, Series editor, LAMBRIS, JOHN D., Series editor, PAOLETTI, RODOLFO, Series editor, and Tanguay, Robert M., editor

Published
2017
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29. Phenylalanine effects on brain function in adult phenylketonuria

Author

Pilotto, Andrea, Zipser, Carl M., Leks, Edytha, Haas, Dorothea, Gramer, Gwendolyn, Freisinger, Peter, Schaeffer, Eva, Liepelt-Scarfone, Inga, Brockmann, Kathrin, Maetzler, Walter, Schulte, Claudia, Deuschle, Christian, Hauser, Ann Kathrin, Hoffmann, Georg F., Scheffler, Klaus, van Spronsen, Francjan J., Padovani, Alessandro, Trefz, Friedrich, and Berg, Daniela

Published
2020
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31. Newborn screening for primary carnitine deficiency: who will benefit? – a retrospective cohort study

Author

Crefcoeur, Loek, primary, Ferdinandusse, Sacha, additional, van der Crabben, Saskia N, additional, Dekkers, Eugènie, additional, Fuchs, Sabine A, additional, Huidekoper, Hidde, additional, Janssen, Mirian, additional, Langendonk, Janneke, additional, Maase, Rose, additional, de Sain, Monique, additional, Rubio, Estela, additional, van Spronsen, Francjan J, additional, Vaz, Frédéric Maxime, additional, Verschoof, Rendelien, additional, de Vries, Maaike, additional, Wijburg, Frits, additional, Visser, Gepke, additional, and Langeveld, Mirjam, additional

Published
2023
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34. Voluntary Exercise Prevents Oxidative Stress in the Brain of Phenylketonuria Mice

Author

Mazzola, Priscila Nicolao, Bruinenberg, Vibeke, Anjema, Karen, van Vliet, Danique, Dutra-Filho, Carlos Severo, van Spronsen, Francjan J., van der Zee, Eddy A., Baumgartner, Matthias, Series editor, Patterson, Marc, Series editor, Rahman, Shamima, Series editor, Peters, Verena, Series editor, Morava, Eva, Editor-in-chief, and Zschocke, Johannes, Series editor

Published
2016
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35. Key European guidelines for the diagnosis and management of patients with phenylketonuria

Author

van Spronsen, Francjan J, van Wegberg, Annemiek MJ, Ahring, Kirsten, Bélanger-Quintana, Amaya, Blau, Nenad, Bosch, Annet M, Burlina, Alberto, Campistol, Jaime, Feillet, Francois, Giżewska, Maria, Huijbregts, Stephan C, Kearney, Shauna, Leuzzi, Vincenzo, Maillot, Francois, Muntau, Ania C, Trefz, Fritz K, van Rijn, Margreet, Walter, John H, and MacDonald, Anita

Published
2017
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37. Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients

Author

van Vliet, Kimber, van Ginkel, Willem G., Jahja, Rianne, Daly, Anne, MacDonald, Anita, De Laet, Corinne, Vara, Roshni, Rahman, Yusof, Cassiman, David, Eyskens, Francois, Timmer, Corrie, Mumford, Nicky, Bierau, Jörgen, van Hasselt, Peter M., Gissen, Paul, Goyens, Philippe J., McKiernan, Patrick J., Wilcox, Gisela, Morris, Andrew A. M., Jameson, Elisabeth A., Huijbregts, Stephan C. J., and van Spronsen, Francjan J.

Published
2019
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38. Infants with Tyrosinemia Type 1: Should phenylalanine be supplemented?

Author

van Vliet, Danique, van Dam, Esther, van Rijn, Margreet, Derks, Terry G. J., Venema-Liefaard, Gineke, Hitzert, Marrit M., Lunsing, Roelineke J., Heiner-Fokkema, M. Rebecca, van Spronsen, Francjan J., Zschocke, Johannes, Editor-in-chief, Baumgartner, Matthias, Series editor, Gibson, K Michael, Editor-in-chief, Patterson, Marc, Series editor, Rahman, Shamima, Series editor, Morava, Eva, editor, and Peters, Verena, editor

Published
2015
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40. A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening

Author

Veldman, Abigail, Kiewiet, M. B.Gea, Westra, Dineke, Bosch, Annet M., Brands, Marion M.G., de Coo, René I.F.M., Derks, Terry G.J., Fuchs, Sabine A., van den Hout, Johanna M.P., Huidekoper, Hidde H., Kluijtmans, Leo A.J., Koop, Klaas, Lubout, Charlotte M.A., Mulder, Margaretha F., Panis, Bianca, Rubio-Gozalbo, M. Estela, de Sain-van der Velden, Monique G., Schaefers, Jaqueline, Schreuder, Andrea B., Visser, Gepke, Wevers, Ron A., Wijburg, Frits A., Heiner-Fokkema, M. Rebecca, van Spronsen, Francjan J., Veldman, Abigail, Kiewiet, M. B.Gea, Westra, Dineke, Bosch, Annet M., Brands, Marion M.G., de Coo, René I.F.M., Derks, Terry G.J., Fuchs, Sabine A., van den Hout, Johanna M.P., Huidekoper, Hidde H., Kluijtmans, Leo A.J., Koop, Klaas, Lubout, Charlotte M.A., Mulder, Margaretha F., Panis, Bianca, Rubio-Gozalbo, M. Estela, de Sain-van der Velden, Monique G., Schaefers, Jaqueline, Schreuder, Andrea B., Visser, Gepke, Wevers, Ron A., Wijburg, Frits A., Heiner-Fokkema, M. Rebecca, and van Spronsen, Francjan J.

Abstract

The Wilson and Jungner (W&J) and Andermann criteria are meant to help select diseases eligible for population-based screening. With the introduction of next-generation sequencing (NGS) methods for newborn screening (NBS), more inherited metabolic diseases (IMDs) can technically be included, and a revision of the criteria was attempted. This study aimed to formulate statements and investigate whether those statements could elaborate on the criterion of treatability for IMDs to decide on eligibility for NBS. An online Delphi study was started among a panel of Dutch IMD experts (EPs). EPs evaluated, amended, and approved statements on treatability that were subsequently applied to 10 IMDs. After two rounds of Delphi, consensus was reached on 10 statements. Application of these statements selected 5 out of 10 IMDs proposed for this study as eligible for NBS, including 3 IMDs in the current Dutch NBS. The statement: ‘The expected benefit/burden ratio of early treatment is positive and results in a significant health outcome’ contributed most to decision-making. Our Delphi study resulted in 10 statements that can help to decide on eligibility for inclusion in NBS based on treatability, also showing that other criteria could be handled in a comparable way. Validation of the statements is required before these can be applied as guidance to authorities.

Published
2023

41. Newborn screening for primary carnitine deficiency:Who will benefit? - A retrospective cohort study

Author

Crefcoeur, Loek, Ferdinandusse, Sacha, Van Der Crabben, Saskia N., Dekkers, Eugènie, Fuchs, Sabine A., Huidekoper, Hidde, Janssen, Mirian, Langendonk, Janneke, Maase, Rose, De Sain, Monique, Rubio, Estela, Van Spronsen, Francjan J., Vaz, Frédéric Maxime, Verschoof, Rendelien, De Vries, Maaike, Wijburg, Frits, Visser, Gepke, Langeveld, Mirjam, Crefcoeur, Loek, Ferdinandusse, Sacha, Van Der Crabben, Saskia N., Dekkers, Eugènie, Fuchs, Sabine A., Huidekoper, Hidde, Janssen, Mirian, Langendonk, Janneke, Maase, Rose, De Sain, Monique, Rubio, Estela, Van Spronsen, Francjan J., Vaz, Frédéric Maxime, Verschoof, Rendelien, De Vries, Maaike, Wijburg, Frits, Visser, Gepke, and Langeveld, Mirjam

Abstract

Background Newborn screening (NBS) programmes identify a wide range of disease phenotypes, which raises the question whether early identification and treatment is beneficial for all. This study aims to answer this question for primary carnitine deficiency (PCD) taking into account that NBS for PCD identifies newborns with PCD and also until then undiagnosed mothers. Methods We investigated clinical, genetic (variants in SLC22A5 gene) and functional (carnitine transport activity in fibroblasts) characteristics of all referred individuals through NBS (newborns and mothers) and clinically diagnosed patients with PCD (not through NBS). Disease phenotype in newborns was predicted using data from PCD mothers and cases published in literature with identical SLC22A5 variants. Results PCD was confirmed in 19/131 referred newborns, 37/82 referred mothers and 5 clinically diagnosed patients. Severe symptoms were observed in all clinically diagnosed patients, 1 newborn and none of the mothers identified by NBS. PCD was classified as severe in all 5 clinically diagnosed patients, 3/19 newborns and 1/37 mothers; as benign in 8/19 newborns and 36/37 mothers and as unknown in 8/19 newborns. Carnitine transport activity completely separated severe phenotype from benign phenotype (median (range): 4.0% (3.5-5.0)] vs 26% (9.5-42.5), respectively). Conclusion The majority of mothers and a significant proportion of newborns with PCD identified through NBS are likely to remain asymptomatic without early treatment. Conversely, a small proportion of newborns with predicted severe PCD could greatly benefit from early treatment. Genetic variants and carnitine transport activity can be used to distinguish between these groups. & amp; copy; & amp; copy; Author(s) (or their employer(s)) 2023. Re-use permitted under CC BY. Published by BMJ.

Published
2023

42. A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening

Author

Metabole ziekten patientenzorg, Child Health, Regenerative Medicine and Stem Cells, Genetica Sectie Metabole Diagnostiek, Veldman, Abigail, Kiewiet, M B Gea, Westra, Dineke, Bosch, Annet M, Brands, Marion M G, de Coo, René I F M, Derks, Terry G J, Fuchs, Sabine A, van den Hout, Johanna M P, Huidekoper, Hidde H, Kluijtmans, Leo A J, Koop, Klaas, Lubout, Charlotte M A, Mulder, Margaretha F, Panis, Bianca, Rubio-Gozalbo, M Estela, de Sain-van der Velden, Monique G, Schaefers, Jaqueline, Schreuder, Andrea B, Visser, Gepke, Wevers, Ron A, Wijburg, Frits A, Heiner-Fokkema, M Rebecca, van Spronsen, Francjan J, Metabole ziekten patientenzorg, Child Health, Regenerative Medicine and Stem Cells, Genetica Sectie Metabole Diagnostiek, Veldman, Abigail, Kiewiet, M B Gea, Westra, Dineke, Bosch, Annet M, Brands, Marion M G, de Coo, René I F M, Derks, Terry G J, Fuchs, Sabine A, van den Hout, Johanna M P, Huidekoper, Hidde H, Kluijtmans, Leo A J, Koop, Klaas, Lubout, Charlotte M A, Mulder, Margaretha F, Panis, Bianca, Rubio-Gozalbo, M Estela, de Sain-van der Velden, Monique G, Schaefers, Jaqueline, Schreuder, Andrea B, Visser, Gepke, Wevers, Ron A, Wijburg, Frits A, Heiner-Fokkema, M Rebecca, and van Spronsen, Francjan J

Published
2023

43. Newborn screening for primary carnitine deficiency: who will benefit? - a retrospective cohort study

Author

Cancer, Metabole ziekten onderzoek 1, Genetica, Metabole ziekten patientenzorg, Child Health, Regenerative Medicine and Stem Cells, Genetica Sectie Metabole Diagnostiek, MDL onderzoek 1, Infection & Immunity, Crefcoeur, Loek, Ferdinandusse, Sacha, van der Crabben, Saskia N, Dekkers, Eugènie, Fuchs, Sabine A, Huidekoper, Hidde, Janssen, Mirian, Langendonk, Janneke, Maase, Rose, de Sain, Monique, Rubio, Estela, van Spronsen, Francjan J, Vaz, Frédéric Maxime, Verschoof, Rendelien, de Vries, Maaike, Wijburg, Frits, Visser, Gepke, Langeveld, Mirjam, Cancer, Metabole ziekten onderzoek 1, Genetica, Metabole ziekten patientenzorg, Child Health, Regenerative Medicine and Stem Cells, Genetica Sectie Metabole Diagnostiek, MDL onderzoek 1, Infection & Immunity, Crefcoeur, Loek, Ferdinandusse, Sacha, van der Crabben, Saskia N, Dekkers, Eugènie, Fuchs, Sabine A, Huidekoper, Hidde, Janssen, Mirian, Langendonk, Janneke, Maase, Rose, de Sain, Monique, Rubio, Estela, van Spronsen, Francjan J, Vaz, Frédéric Maxime, Verschoof, Rendelien, de Vries, Maaike, Wijburg, Frits, Visser, Gepke, and Langeveld, Mirjam

Published
2023

45. Efficacy and safety of cyclic pyranopterin monophosphate substitution in severe molybdenum cofactor deficiency type A: a prospective cohort study

Author

Schwahn, Bernd C, Van Spronsen, Francjan J, Belaidi, Abdel A, Bowhay, Stephen, Christodoulou, John, Derks, Terry G, Hennermann, Julia B, Jameson, Elisabeth, König, Kai, McGregor, Tracy L, Font-Montgomery, Esperanza, Santamaria-Araujo, José A, Santra, Saikat, Vaidya, Mamta, Vierzig, Anne, Wassmer, Evangeline, Weis, Ilona, Wong, Flora Y, Veldman, Alex, and Schwarz, Günter

Published
2015
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46. Renal thrombotic microangiopathy in patients with cblC defect: review of an under-recognized entity

Author

Beck, Bodo B., van Spronsen, FrancJan, Diepstra, Arjan, Berger, Rolf M. F., and Kömhoff, Martin

Subjects
Health
Abstract

Methylmalonic aciduria and homocystinuria, cobalamin C (cblC) type, is the most common genetic type of functional cobalamin (vitamin B.sub.12) deficiency. This metabolic disease is characterized by marked heterogeneity of neurocognitive disease (microcephaly, seizures, developmental delay, ataxia, hypotonia) and variable extracentral nervous system involvement (failure to thrive, cardiovascular, renal, ocular) manifesting predominantly early in life, sometimes during gestation. To enhance awareness and understanding of renal disease associated with cblC defect, we studied biochemical, genetic, clinical, and histopathological data from 36 patients. Consistent clinical chemistry features of renal disease were intravascular hemolysis, hematuria, and proteinuria in all patients, with nephrotic-range proteinuria observed in three. Renal function ranged from normal to renal failure, with eight patients requiring (intermittent) dialysis. Two thirds were diagnosed with atypical (diarrhea-negative) hemolytic uremic syndrome (HUS). Renal histopathology analyses of biopsy samples from 16 patients revealed glomerular lesions typical of thrombotic microangiopathy (TMA). Treatment with hydroxycobalamin improved renal function in the majority, including three in whom dialysis could be withdrawn. Neurological sequelae were observed in 44 % and cardiopulmonary involvement in 39 % of patients, with half of the latter group demonstrating pulmonary hypertension. Mortality reached 100 % in untreated patients and 79 and 56 % in those with cardiopulmonary or neurological involvement, respectively. In all patients presenting with unclear intravascular hemolysis, hematuria, and proteinuria, cblC defect should be ruled out by determination of blood/plasma homocysteine levels and/or genetic testing, irrespective of actual renal function and neurological status, to ensure timely diagnosis and treatment., Author(s): Bodo B. Beck [sup.1] , FrancJan van Spronsen [sup.2] , Arjan Diepstra [sup.3] , Rolf M. F. Berger [sup.4] , Martin Kömhoff [sup.5] [sup.6] Author Affiliations: (1) 0000 0000 [...]

Published
2017
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