Literature DB >> 24429046

Hypertension in a teenager: a family affair.

Sukhpreet Singh Dubb1, Asiya Tafader, Karim Meeran, Jeremy Fletcher.   

Abstract

We present a young, lean, female patient following surveillance by the general practitioner for abnormally high blood pressure readings. Her grandmother died at a young age because of hypertension which shows her family has significant history for hypertension. Her symptoms and signs included feeling hot and nauseous following exercise, sweating and palpitations. Her young age and significant family history immediately prioritises secondary causes including phaeochromocytoma and familial syndromes causing hypertension. Urinary results showed significantly elevated norepinephrine, MRI scanning revealed a mass not within but adjacent to the right adrenal gland while CT-based scanning showed no other ectopics. The patient subsequently underwent surgical intervention at Great Ormond Street Hosptial and following a difficult procedure, that initially started laparoscopically and was converted to open, the tumour was excised. Histopathology and genetic analysis ultimately revealed the patient to have suffered from a paraganglioma type 4 syndrome with a missense mutation of the SDHB gene.

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Year:  2014        PMID: 24429046      PMCID: PMC3903176          DOI: 10.1136/bcr-2013-200221

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN: 1757-790X


  17 in total

1.  Germ-line mutations in nonsyndromic pheochromocytoma.

Authors:  Hartmut P H Neumann; Birke Bausch; Sarah R McWhinney; Bernhard U Bender; Oliver Gimm; Gerlind Franke; Joerg Schipper; Joachim Klisch; Carsten Altehoefer; Klaus Zerres; Andrzej Januszewicz; Charis Eng; Wendy M Smith; Robin Munk; Tanja Manz; Sven Glaesker; Thomas W Apel; Markus Treier; Martin Reineke; Martin K Walz; Cuong Hoang-Vu; Michael Brauckhoff; Andreas Klein-Franke; Peter Klose; Heinrich Schmidt; Margarete Maier-Woelfle; Mariola Peçzkowska; Cesary Szmigielski; Charis Eng
Journal:  N Engl J Med       Date:  2002-05-09       Impact factor: 91.245

2.  A case of familial paraganglioma syndrome type 4 caused by a mutation in the SDHB gene.

Authors:  Aaron M Drucker; Robyn L Houlden
Journal:  Nat Clin Pract Endocrinol Metab       Date:  2006-12

Review 3.  SDHC mutations in hereditary paraganglioma/pheochromocytoma.

Authors:  Ulrich Müller; Christian Troidl; Stephan Niemann
Journal:  Fam Cancer       Date:  2005       Impact factor: 2.375

4.  Clinical spectrum and outcome of functional extraadrenal paraganglioma.

Authors:  D S O'Riordain; W F Young; C S Grant; J A Carney; J A van Heerden
Journal:  World J Surg       Date:  1996-09       Impact factor: 3.352

Review 5.  Pheochromocytoma and functional paraganglioma.

Authors:  Heather Yeo; Sanziana Roman
Journal:  Curr Opin Oncol       Date:  2005-01       Impact factor: 3.645

6.  Genetic testing in pheochromocytoma or functional paraganglioma.

Authors:  Laurence Amar; Jérôme Bertherat; Eric Baudin; Christiane Ajzenberg; Brigitte Bressac-de Paillerets; Olivier Chabre; Bernard Chamontin; Brigitte Delemer; Sophie Giraud; Arnaud Murat; Patricia Niccoli-Sire; Stéphane Richard; Vincent Rohmer; Jean-Louis Sadoul; Laurence Strompf; Martin Schlumberger; Xavier Bertagna; Pierre-François Plouin; Xavier Jeunemaitre; Anne-Paule Gimenez-Roqueplo
Journal:  J Clin Oncol       Date:  2005-12-01       Impact factor: 44.544

Review 7.  A role for mitochondrial enzymes in inherited neoplasia and beyond.

Authors:  Charis Eng; Maija Kiuru; Magali J Fernandez; Lauri A Aaltonen
Journal:  Nat Rev Cancer       Date:  2003-03       Impact factor: 60.716

8.  Local-regional recurrence of sporadic or syndromic abdominal extra-adrenal paraganglioma: incidence, characteristics, and outcome.

Authors:  Sam Van Slycke; Robert Caiazzo; Pascal Pigny; Catherine Cardot-Bauters; Laurent Arnalsteen; Michele D'Herbomez; Emmanuelle Leteurtre; Nathalie Rouaix-Emery; Olivier Ernst; Damien Huglo; Marie-Christine Vantyghem; Jean-Louis Wemeau; Bruno Carnaille; François Pattou
Journal:  Surgery       Date:  2009-12       Impact factor: 3.982

9.  Comparison of 18F-fluoro-L-DOPA, 18F-fluoro-deoxyglucose, and 18F-fluorodopamine PET and 123I-MIBG scintigraphy in the localization of pheochromocytoma and paraganglioma.

Authors:  Henri J L M Timmers; Clara C Chen; Jorge A Carrasquillo; Millie Whatley; Alexander Ling; Bastiaan Havekes; Graeme Eisenhofer; Lucia Martiniova; Karen T Adams; Karel Pacak
Journal:  J Clin Endocrinol Metab       Date:  2009-10-28       Impact factor: 5.958

Review 10.  Current progress and future challenges in the biochemical diagnosis and treatment of pheochromocytomas and paragangliomas.

Authors:  G Eisenhofer; G Siegert; J Kotzerke; S R Bornstein; K Pacak
Journal:  Horm Metab Res       Date:  2008-05       Impact factor: 2.936

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