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.
[en] 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.
Disciplines :
Urology & nephrology
Author, co-author :
Mekahli, Djalila ; PKD Research Group, Laboratory of Ion Channel Research, Department of Cellular and Molecular Medicine, KU Leuven, Leuven, Belgium. djalila.mekahli@uzleuven.be ; Department of Paediatric Nephrology, University Hospitals Leuven, Leuven, Belgium. djalila.mekahli@uzleuven.be
Müller, Roman-Ulrich ; Department II of Internal Medicine and Center for Molecular Medicine Cologne, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany ; CECAD, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany ; Center for Rare Diseases Cologne, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany
Marlais, Matko; UCL Great Ormond Street Institute of Child Health, University College London, London, UK
Wlodkowski, Tanja; Division of Paediatric Nephrology, Center for Paediatrics and Adolescent Medicine, University Hospital, Heidelberg, Germany
Haeberle, Stefanie; Division of Paediatric Nephrology, Center for Paediatrics and Adolescent Medicine, University Hospital, Heidelberg, Germany
de Argumedo, Marta López; Basque Office for Health Technology Assessment, (OSTEBA), Basque Government, Vitoria-Gasteiz, Spain
Bergmann, Carsten; Department of Medicine IV, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany ; Medizinische Genetik Mainz, Limbach Genetics, Mainz, Germany
Breysem, Luc; Department of Radiology, University Hospital of Leuven, Leuven, Belgium
Fladrowski, Carla; Associazione Sclerosi Tuberosa ASP, Rome, Italy ; European Tuberous Sclerosis Complex Association (ETSC), Oestrich-Winkel, Germany
Henske, Elizabeth P ; Center for LAM Research and Clinical Care, Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA
Janssens, Peter ; Department of Nephrology and Arterial Hypertension, Universitair Ziekenhuis Brussel (UZ Brussel), Vrije Universiteit Brussel, Brussels, Belgium
Jouret, François ; Université de Liège - ULiège > Département des sciences cliniques > Néphrologie
Kingswood, John Christopher; Cardiology Clinical Academic Group, Molecular and Clinical Sciences Research Centre, St Georges University of London, London, UK
Lattouf, Jean-Baptiste; Department of Surgery-Urology, CHUM-Centre Hospitalier de l'Université de Montréal, Montreal, Quebec, Canada
Lilien, Marc ; Department of Paediatric Nephrology, Wilhelmina Children´s Hospital, University Medical Center Utrecht, Utrecht, The Netherlands
Maleux, Geert; Department of Radiology, University Hospitals Leuven, Leuven, Belgium
Rozenberg, Micaela; European Tuberous Sclerosis Complex Association (ETSC), Oestrich-Winkel, Germany ; Associação de Esclerose Tuberosa em Portugal, Lisbon, Portugal
Siemer, Stefan; Department of Urology and Paediatric Urology, Saarland University, Homburg, Germany
Devuyst, Olivier; Department of Physiology, Mechanisms of Inherited Kidney Disorders, University of Zurich, Zurich, Switzerland ; Institute for Rare Diseases, Saint-Luc Academic Hospital, UC Louvain, Brussels, Belgium
Schaefer, Franz; Division of Paediatric Nephrology, Center for Paediatrics and Adolescent Medicine, University Hospital, Heidelberg, Germany
Kwiatkowski, David J ; Cancer Genetics Laboratory, Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA
Rouvière, Olivier; Department of Radiology, Edouard Herriot Hospital, Hospices Civils de Lyon, Lyon, France ; Université Lyon 1, Lyon, France, Faculté de médecine Lyon Est, Lyon, France
Bissler, John ; Department of Paediatrics, University of Tennessee Health Science Center and Le Bonheur Children's Hospital, Memphis, TN, USA. jbissler@uthsc.edu ; Children's Foundation Research Institute (CFRI), Le Bonheur Children's Hospital, Memphis, TN, USA. jbissler@uthsc.edu ; Paediatric Medicine Department, St. Jude Children's Research Hospital, Memphis, TN, USA. jbissler@uthsc.edu
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