Clinical and Genetic Aspects of Phaeochromocytoma
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 deat...
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| Veröffentlicht in: | Hormone Research in Paediatrics 2003-01, Vol.59 (Suppl 1), p.56-61 |
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| container_issue | Suppl 1 |
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| container_title | Hormone Research in Paediatrics |
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| creator | Opocher, Giuseppe Schiavi, Francesca Conton, Pierantonio Scaroni, Carla Mantero, Franco |
| description | 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. |
| doi_str_mv | 10.1159/000067846 |
| format | Article |
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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. 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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.</description><subject>Adrenal Gland Neoplasms - complications</subject><subject>Adrenal Gland Neoplasms - diagnosis</subject><subject>Adrenal Gland Neoplasms - enzymology</subject><subject>Adrenal Gland Neoplasms - genetics</subject><subject>Chromosomes, Human, Pair 1 - genetics</subject><subject>Endocrine Hypertension</subject><subject>Humans</subject><subject>Membrane Proteins - genetics</subject><subject>Multiple Endocrine Neoplasia - genetics</subject><subject>Neurofibromatosis 1 - genetics</subject><subject>Pheochromocytoma - complications</subject><subject>Pheochromocytoma - diagnosis</subject><subject>Pheochromocytoma - enzymology</subject><subject>Pheochromocytoma - genetics</subject><subject>Succinate Dehydrogenase - genetics</subject><subject>von Hippel-Lindau Disease - genetics</subject><issn>1663-2818</issn><issn>0301-0163</issn><issn>1663-2826</issn><isbn>3805575394</isbn><isbn>9783805575393</isbn><isbn>9783318009422</isbn><isbn>3318009423</isbn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2003</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpFkDtPwzAURs1LtJQOzEhVJiSGgK8dPzJWFRSkSjDAHPkVGkjiYqdD_z2pUpW73Ct9537DQegG8AMAyx9xP1zIjJ-gaS4kpSAxzjNCTtEYOKcpkYSfoSsqMWOC0Tw7PwYgR2ga4_e-g0ouOLtEIyCMc0HIGMGirtrKqDpRrU2WrnVdZZJ53DjTxcSXyftaOW_WwTfe7DrfqGt0Uao6uulhT9Dn89PH4iVdvS1fF_NVaiiGLuXGYZA2U6IUhirt9gfn2mliM8iYLEFKBpJRRo0Gqq3VtjSaCE6IMiWdoLuhdxP879bFrmiqaFxdq9b5bSwE7R0Qnvfg_QCa4GMMriw2oWpU2BWAi72_4uivZ2eH0q1unP0nD0J64HYAflT4cuEIDO9_Ht1tfQ</recordid><startdate>200301</startdate><enddate>200301</enddate><creator>Opocher, Giuseppe</creator><creator>Schiavi, Francesca</creator><creator>Conton, Pierantonio</creator><creator>Scaroni, Carla</creator><creator>Mantero, Franco</creator><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>200301</creationdate><title>Clinical and Genetic Aspects of Phaeochromocytoma</title><author>Opocher, Giuseppe ; Schiavi, Francesca ; Conton, Pierantonio ; Scaroni, Carla ; Mantero, Franco</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c301t-6ce018d4a7f7c3abea7f766beb2d41458f1885185353cb13bddbdfcb27622acf3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2003</creationdate><topic>Adrenal Gland Neoplasms - complications</topic><topic>Adrenal Gland Neoplasms - diagnosis</topic><topic>Adrenal Gland Neoplasms - enzymology</topic><topic>Adrenal Gland Neoplasms - genetics</topic><topic>Chromosomes, Human, Pair 1 - genetics</topic><topic>Endocrine Hypertension</topic><topic>Humans</topic><topic>Membrane Proteins - genetics</topic><topic>Multiple Endocrine Neoplasia - genetics</topic><topic>Neurofibromatosis 1 - genetics</topic><topic>Pheochromocytoma - complications</topic><topic>Pheochromocytoma - diagnosis</topic><topic>Pheochromocytoma - enzymology</topic><topic>Pheochromocytoma - genetics</topic><topic>Succinate Dehydrogenase - genetics</topic><topic>von Hippel-Lindau Disease - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Opocher, Giuseppe</creatorcontrib><creatorcontrib>Schiavi, Francesca</creatorcontrib><creatorcontrib>Conton, Pierantonio</creatorcontrib><creatorcontrib>Scaroni, Carla</creatorcontrib><creatorcontrib>Mantero, Franco</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Hormone Research in Paediatrics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Opocher, Giuseppe</au><au>Schiavi, Francesca</au><au>Conton, Pierantonio</au><au>Scaroni, Carla</au><au>Mantero, Franco</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Clinical and Genetic Aspects of Phaeochromocytoma</atitle><jtitle>Hormone Research in Paediatrics</jtitle><addtitle>Horm Res Paediatr</addtitle><date>2003-01</date><risdate>2003</risdate><volume>59</volume><issue>Suppl 1</issue><spage>56</spage><epage>61</epage><pages>56-61</pages><issn>1663-2818</issn><issn>0301-0163</issn><eissn>1663-2826</eissn><isbn>3805575394</isbn><isbn>9783805575393</isbn><eisbn>9783318009422</eisbn><eisbn>3318009423</eisbn><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.</abstract><cop>Basel, Switzerland</cop><pmid>12566722</pmid><doi>10.1159/000067846</doi><tpages>6</tpages></addata></record> |
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| ispartof | Hormone Research in Paediatrics, 2003-01, Vol.59 (Suppl 1), p.56-61 |
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| source | Karger Journals; MEDLINE; Alma/SFX Local Collection |
| subjects | Adrenal Gland Neoplasms - complications Adrenal Gland Neoplasms - diagnosis Adrenal Gland Neoplasms - enzymology Adrenal Gland Neoplasms - genetics Chromosomes, Human, Pair 1 - genetics Endocrine Hypertension Humans Membrane Proteins - genetics Multiple Endocrine Neoplasia - genetics Neurofibromatosis 1 - genetics Pheochromocytoma - complications Pheochromocytoma - diagnosis Pheochromocytoma - enzymology Pheochromocytoma - genetics Succinate Dehydrogenase - genetics von Hippel-Lindau Disease - genetics |
| title | Clinical and Genetic Aspects of Phaeochromocytoma |
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