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      Clinical and Genetic Aspects of Phaeochromocytoma

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          Abstract

          Phaeochromocytoma is a tumour of the adrenal medulla, which, although rare, is a major cause of correctable hypertension with a prevalence of 0.1–0.5% in the hypertensive population. Clinical symptoms include attacks of paroxysmal headache, sweating, palpitations, stress and a sense of imminent death. Often associated with the above is an increase in blood pressure. Despite the fact that the underlying genetic mechanisms of phaeochromocytoma have been well investigated, they are still incompletely understood. In approximately 80% of cases the tumour occurs sporadically, but it may occur in association with type 2 multiple endocrine neoplasia, type 1 neurofibromatosis or von Hippel-Lindau disease. Molecular evidence suggests that other genes such as SDHD or SDHB may control its development; the possibility of other putative phaeochromocytoma genes is currently being investigated.

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          Germline SDHD mutation in familial phaeochromocytoma.

          The genetic basis for familial phaeochromocytoma is unknown in many cases. Since the disorder has been reported in some cases of familial head and neck paraganglioma, which is caused by a mutation in the gene encoding succinate dehydrogenase complex subunit D (SDHD), we investigated this gene in kindreds with familial phaeochromocytoma. A germline SDHD frameshift mutation was identified in a two-generation family consisting of four children with phaeochromocytoma, but somatic mutations were not detected in 24 sporadic phaeochromocytoma tumours. Germline SDHD mutation analysis should be done in individuals with familial, multiple, or early-onset phaeochromocytomas even if a personal or family history of head and neck paraganglioma is absent.
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            Author and article information

            Journal
            HRE
            Horm Res Paediatr
            10.1159/issn.1663-2818
            Hormone Research in Paediatrics
            S. Karger AG
            978-3-8055-7539-3
            978-3-318-00942-2
            1663-2818
            1663-2826
            2003
            January 2003
            17 November 2004
            : 59
            : Suppl 1
            : 56-61
            Affiliations
            Endocrinology, Department of Medical and Surgical Sciences, University of Padova, Padova, Italy
            Article
            67846 Horm Res 2003;59(suppl 1):56–61
            10.1159/000067846
            12566722
            © 2003 S. Karger AG, Basel

            Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher. Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug. Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.

            Page count
            Figures: 1, Tables: 1, References: 24, Pages: 6
            Categories
            Endocrine Hypertension

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