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Clinical practice recommendations for kidney involvement in tuberous sclerosis complex: a consensus statement by the ERKNet Working Group for Autosomal Dominant Structural Kidney Disorders and the ERA Genes & Kidney Working Group

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by the presence of proliferative lesions throughout the body. Management of TSC is challenging because patients have a multifaceted systemic illness with prominent neurological and developmental impact as well as potent...

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Main Authors: Mekahli, Djalila (Author) , Müller, Roman-Ulrich (Author) , Marlais, Matko (Author) , Wlodkowski, Tanja (Author) , Häberle, Stefanie (Author) , de Argumedo, Marta López (Author) , Bergmann, Carsten (Author) , Breysem, Luc (Author) , Fladrowski, Carla (Author) , Henske, Elizabeth P. (Author) , Janssens, Peter (Author) , Jouret, François (Author) , Kingswood, John Christopher (Author) , Lattouf, Jean-Baptiste (Author) , Lilien, Marc (Author) , Maleux, Geert (Author) , Rozenberg, Micaela (Author) , Siemer, Stefan (Author) , Devuyst, Olivier (Author) , Schaefer, Franz (Author) , Kwiatkowski, David J. (Author) , Rouvière, Olivier (Author) , Bissler, John (Author)
Format: Article (Journal)
Language:English
Published: 05 March 2024
In: Nature reviews. Nephrology
Year: 2024, Volume: 20, Issue: 6, Pages: 402-420
ISSN:1759-507X
DOI:10.1038/s41581-024-00818-0
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1038/s41581-024-00818-0
Verlag, lizenzpflichtig, Volltext: https://www.nature.com/articles/s41581-024-00818-0
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Author Notes:Djalila Mekahli, Roman-Ulrich Müller, Matko Marlais, Tanja Wlodkowski, Stefanie Haeberle, Marta López de Argumedo, Carsten Bergmann, Luc Breysem, Carla Fladrowski, Elizabeth P. Henske, Peter Janssens, François Jouret, John Christopher Kingswood, Jean-Baptiste Lattouf, Marc Lilien, Geert Maleux, Micaela Rozenberg, Stefan Siemer, Olivier Devuyst, Franz Schaefer, David J. Kwiatkowski, Olivier Rouvière & John Bissler
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Summary:Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by the presence of proliferative lesions throughout the body. Management of TSC is challenging because patients have a multifaceted systemic illness with prominent neurological and developmental impact as well as potentially severe kidney, heart and lung phenotypes; however, every organ system can be involved. Adequate care for patients with TSC requires a coordinated effort involving a multidisciplinary team of clinicians and support staff. This clinical practice recommendation was developed by nephrologists, urologists, paediatric radiologists, interventional radiologists, geneticists, pathologists, and patient and family group representatives, with a focus on TSC-associated kidney manifestations. Careful monitoring of kidney function and assessment of kidney structural lesions by imaging enable early interventions that can preserve kidney function through targeted approaches. Here, we summarize the current evidence and present recommendations for the multidisciplinary management of kidney involvement in TSC.
Item Description:Gesehen am 05.08.2024
Physical Description:Online Resource
ISSN:1759-507X
DOI:10.1038/s41581-024-00818-0

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