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Genetics, diagnosis...
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Lenders, Jacques W. M.Radboud Univ Nijmegen, Dept Internal Med, Med Ctr, POB 6500 HB,Geert Grootepl Zuid 8, NL-6525 GA Nijmegen, Netherlands.;Tech Univ Dresden, Univ Hosp Carl Gustav Carus, Dept Med 3, Dresden, Germany.
(author)
Genetics, diagnosis, management and future directions of research of phaeochromocytoma and paraganglioma : a position statement and consensus of the Working Group on Endocrine Hypertension of the European Society of Hypertension
- Article/chapterEnglish2020
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LIBRIS-ID:oai:DiVA.org:uu-419194
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https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-419194URI
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https://doi.org/10.1097/HJH.0000000000002438DOI
Supplementary language notes
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Language:English
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Summary in:English
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Subject category:ref swepub-contenttype
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Subject category:art swepub-publicationtype
Notes
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Phaeochromocytoma and paraganglioma (PPGL) are chromaffin cell tumours that require timely diagnosis because of their potentially serious cardiovascular and sometimes life- threatening sequelae. Tremendous progress in biochemical testing, imaging, genetics and pathophysiological understanding of the tumours has far-reaching implications for physicians dealing with hypertension and more importantly affected patients. Because hypertension is a classical clinical clue for PPGL, physicians involved in hypertension care are those who are often the first to consider this diagnosis. However, there have been profound changes in how PPGLs are discovered; this is often now based on incidental findings of adrenal or other masses during imaging and increasingly during surveillance based on rapidly emerging new hereditary causes of PPGL. We therefore address the relevant genetic causes of PPGLs and outline how genetic testing can be incorporated within clinical care. In addition to conventional imaging (computed tomography, MRI), new functional imaging approaches are evaluated. The novel knowledge of genotype-phenotype relationships, linking distinct genetic causes of disease to clinical behaviour and biochemical phenotype, provides the rationale for patient-tailored strategies for diagnosis, follow-up and surveillance. Most appropriate preoperative evaluation and preparation of patients are reviewed, as is minimally invasive surgery. Finally, we discuss risk factors for developing metastatic disease and how they may facilitate personalised follow-up. Experts from the European Society of Hypertension have prepared this position document that summarizes the current knowledge in epidemiology, genetics, diagnosis, treatment and surveillance of PPGL.
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Added entries (persons, corporate bodies, meetings, titles ...)
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Kerstens, Michiel N.Univ Groningen, Univ Med Ctr Groningen, Dept Endocrinol, Groningen, Netherlands.
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Amar, LaurenceUniv Paris, Hop Europeen Georges Pompidou, Assistance Publ Hop Paris, Unite Hypertens Arterielle,PARCC,INSERM, Paris, France.
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Prejbisz, AleksanderInst Cardiol, Dept Hypertens, Warsaw, Poland.
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Robledo, MercedesSpanish Natl Canc Res Ctr CNIO, Hereditary Endocrine Canc Grp, Human Canc Genet Program, Madrid, Spain.;Ctr Invest Biomed Red Enfermedades Raras CIBERER, Madrid, Spain.
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Taieb, DavidAix Marseille Univ, Dept Nucl Med, La Timone Univ Hosp, European Ctr Res Med Imaging, Marseille, France.
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Pacak, KarelEunice Kennedy Shriver Natl Inst Child Hlth & Hum, Sect Med Neuroendocrinol, NIH, Bethesda, MD USA.
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Crona, JoakimUppsala universitet,Endokrin tumörbiologi(Swepub:uu)joacr310
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Zelinka, TomasCharles Univ Prague, Ctr Hypertens, Dept Med 3, Div Endocrinol & Metab,Fac Med 1, Prague, Czech Republic.;Gen Univ Hosp, Prague, Czech Republic.
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Mannelli, MassimoUniv Florence, Dept Expt & Clin Biomed Sci, Florence, Italy.
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Deutschbein, TimoUniv Wurzburg, Div Endocrinol & Diabet, Dept Internal Med 1, Univ Hosp, Wurzburg, Germany.
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Timmers, Henri J. L. M.Radboud Univ Nijmegen, Dept Internal Med, Med Ctr, POB 6500 HB,Geert Grootepl Zuid 8, NL-6525 GA Nijmegen, Netherlands.
(author)
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Castinetti, FredericAix Marseille Univ, Dept Endocrinol, Inst Natl Sante & Rech Med INSERM, Marseille Med Genet MMG, Marseille, France.;Assistance Publ Hop Marseille AP HM, Marseille, France.
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Dralle, HenningUniv Duisburg Essen, Dept Gen Visceral & Transplantat Surg, Sect Endocrine Surg, Essen, Germany.
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Widimsky, JrriCharles Univ Prague, Ctr Hypertens, Dept Med 3, Div Endocrinol & Metab,Fac Med 1, Prague, Czech Republic.;Gen Univ Hosp, Prague, Czech Republic.
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Gimenez-Roqueplo, Anne-PauleUniv Paris, Hop Europeen Georges Pompidou, AP HP, Serv Genet,PARCC,INSERM, Paris, France.
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Eisenhofer, GraemeTech Univ Dresden, Univ Hosp Carl Gustav Carus, Dept Med 3, Dresden, Germany.;Tech Univ Dresden, Inst Clin Chem & Lab Med, Med Fac Carl Gustav Carus, Dresden, Germany.
(author)
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Radboud Univ Nijmegen, Dept Internal Med, Med Ctr, POB 6500 HB,Geert Grootepl Zuid 8, NL-6525 GA Nijmegen, Netherlands.;Tech Univ Dresden, Univ Hosp Carl Gustav Carus, Dept Med 3, Dresden, Germany.Univ Groningen, Univ Med Ctr Groningen, Dept Endocrinol, Groningen, Netherlands.
(creator_code:org_t)
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In:Journal of Hypertension38:8, s. 1443-14560263-63521473-5598
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Lenders, Jacques ...
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Kerstens, Michie ...
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Amar, Laurence
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Robledo, Mercede ...
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Taieb, David
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Pacak, Karel
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Timmers, Henri J ...
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Castinetti, Fred ...
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