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Consensus recommendations on lymphedema in Phelan-McDermid syndrome
Institution:3. University of Groningen, University Medical Centre Groningen, Dept Genetics, Groningen, Netherlands;1. VASCERN PPL European Reference Centre: Expert Center for Lymphovascular Medicine, Nij Smellinghe Hospital, Drachten, the Netherlands;2. VASCERN PPL European Reference Centre: French Reference Center Rare Vascular Diseases, Department of Lymphology, AP-HP, HEGP Hôpital Européen Georges Pompidou, Paris, France;4. SW Thames Centre for Genomics, St George''s University Hospitals NHS Foundation Trust, UK and St George''s University of London, London, UK;1. Department of Pediatrics, Pediatric Immunology and Rheumatology Unit, Aster CMI Hospital, Bengaluru, India;2. Vanderbilt University School of Medicine, Nashville, TN, USA;3. Department of Pathology, Microbiology and Immunology, Vanderbilt University Medical Center, Nashville, TN, USA;4. Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA;5. Vanderbilt Center for Immunobiology, Vanderbilt Genetics Institute, Vanderbilt Institute for Infection Immunity and Inflammation, Nashville, TN, USA;1. Department of Obstetrics & Gynecology, Radboud University Medical Center, Nijmegen, the Netherlands;2. Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands;3. Radboud University Medical Center, Radboud Institute for Health Sciences, Nijmegen, the Netherlands;4. Radboud University Medical Center, Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands;1. Medical Genetics Unit, Department of Clinical and Experimental Biomedical Sciences ‘Mario Serio’, University of Florence, Firenze, Italy;2. Neuro-Oncology Unit, Department of Pediatric Oncology, Meyer Children''s Hospital, Firenze, Italy;3. Division of Neurosurgery - Meyer Children''s Hospital - University of Florence, Firenze, Italy;4. Pathology Unit, A. Meyer Children''s University Hospital, Firenze, Italy;5. Medical Genetics Unit, Meyer Children''s University Hospital, Firenze, Italy;6. Dpt. of Neuroscience, IRCCS Fondazione Stella Maris, Calambrone, Pisa, Italy;7. Dpt. of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy;8. Medical Genetics Unit, Department of Medical Sciences and Public Health and CeSAR, University Service for Research, University of Cagliari, 09124, Cagliari, Italy;9. Medical Genetics Unit, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy;1. CHU Rennes, Service de Cytogénétique et Biologie Cellulaire, F-35033, Rennes, France;2. Univ Rennes, CHU Rennes, Inserm, EHESP, Irset, UMR_S, 1085, F-35000, Rennes, France;3. Service de Génétique Clinique, Centre de Référence Anomalies Du Développement, CLAD Ouest, CHU Rennes, Rennes, France;4. Université de Rennes, IGDR (Institut de Génétique et Développement), CNRS UMR 6290, INSERM ERL 1305, Rennes, France;5. Service D’Anatomie Pathologique, Hôpital Pontchaillou, CHU Rennes, Rennes, France;6. Unité de Médecine F?tale, Service de Gynécologie-Obstétrique, CHU Rennes, Rennes, France;7. Service D''endocrinologie Pédiatrique, CHU Rennes, Rennes, France;8. Service de Génétique Moléculaire et Génomique, CHU de Rennes, Rennes, 35033, France;1. Department of Dental Anesthesiology, Tokyo Dental College, Tokyo, Japan;2. Department of Pharmacology, Tokyo Dental College, Tokyo, Japan;3. Department of Obstetrics and Gynecology, The Jikei University School of Medicine, Tokyo, Japan;4. Center for Regenerative Medicine, National Center for Child Health and Development Research Institute, Tokyo, Japan;1. Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, 9112001, Israel;2. Department of Genetics, Hadassah Medical Organization, Jerusalem, 9112001, Israel
Abstract:Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder caused by deletions 22q13.3 or pathogenic variants in the SHANK3 gene. Lymphedema can be a clinical feature in 10–25% of individuals with PMS due to a deletion 22q13.3, but is not observed in those with a SHANK3 variant. This paper forms a part of the European consensus guideline for PMS and focuses on what is known regarding lymphedema in PMS in order to present clinical recommendations.The mechanism causing lymphedema in PMS is unknown. Lymphedema can be suggested by pitting oedema of the extremities or, in later stages, non-pitting swelling. It can occur already at a young age and be progressive if untreated, impacting daily functioning. Lymphedema can be treated using existing general multidisciplinary management guidelines, taking the functioning of the individual with PMS into account. Furthermore, well-known risk factors for the development of lymphedema as lack of physical activities and weight gain/obesity should be addressed. Diagnosis and treatment are best performed in a multidisciplinary centre of expertise.
Keywords:Phelan-McDermid syndrome  Primary  Lymphedema  Paediatric-treatment  Review
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