Eu ropea n. Journal of. En docrino logy. Clinical Study. A Riester and others. Life- threatening events in pheochromocytoma. – Pheochromocytomas vary in presentation, tumor size, and in catecholamine production. Whether pheochromocytoma size correlates with hormone levels. The Journal of Clinical Endocrinology & Metabolism, Volume 99, Issue 6, . Definition of pheochromocytoma and paraganglioma (PPGL).
|Published (Last):||8 May 2008|
|PDF File Size:||12.88 Mb|
|ePub File Size:||6.49 Mb|
|Price:||Free* [*Free Regsitration Required]|
Published online Aug 4.
Fractionated urinary metanephrine, with measurement of urinary creatinine for verification of collection, can be used as alternative options especially in centers where supine blood sampling is not feasible.
Surgical management of organ-contained unilateral pheochromocytoma: Genetic and clinical features of multiple endocrine neoplasia types 1 and 2.
Both are of equal importance, although the rule of endocrinology pheochrmocytoma to the diagnostic algorithm of PPGL as well, making biochemical diagnosis as initial step followed by localizing studies. When justified by young age at presentation or bilaterality, mutation testing should follow the decisional algorithm Figure 1. In progress issue alert. Both nifedipine and verapamil have extended-release action.
Pheochromocytoma and Paraganglioma – Endotext – NCBI Bookshelf
Several quality assurance index items for molecular genetic testing exist and should be applied for PPGL genetic testing, such as the use of negative and positive controls in analyses and the confirmation of a positive test result on a second aliquot of germline DNA.
SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma. The anesthetic management of pheochromocytoma effect of preoperative adrenergic blocking drugs.
Turn recording back on. Nevertheless, some patients with NF1 and an apparently sporadic PPGL presentation have been reported, all with mild features of the diseasepheocrhomocytoma these findings illustrate the importance of ujrnal clinical investigation of possible clinical stigmata of an underlying mutation in all patients with PPGL.
Clinical spectrum of pheochromocytoma. Specimen bags used for tumor retrieval should not tear. Therefore, biochemical evaluation should include highly sensitive tests to safely exclude a PPGL. Decisional algorithm for functional imaging in patients with proven PPGL. The enzymatic activity is typically located in adrenal medulla and so location of a tumor with this phenotype is typically adrenal, however, they may also be seen in extra-adrenal locations, especially in TMEM mutation In the absence of more common germline mutations, rare cases such as SDHA germline mutations may be considered.
All patients with functional PPGLs should undergo preoperative blockade to prevent perioperative complications.
Case Report: Pheochromocytoma: clinical review based on a rare case in adolescence
The varied signs and symptoms of PPGLs mainly reflect the hemodynamic and metabolic actions of the catecholamines produced and secreted by the tumors 5,9. Outcomes from adrenalectomies in the United States: Paraganglioma of the head and neck: PPGLs can secrete all, none, or any combination of catecholamines epinephrine, norepinephrine, dopamine depending upon their biochemical phenotype.
An increase in plasma methoxytyramine is also a common feature of patients with metastatic PPGLs and is a promising new biomarker to identify such patients Greenspan’s basic and clinical endocrinology.
Investigations To prove our diagnostic hypothesis of secondary hypertension in a young non-obese patient, without previous cardiac disease, hormonal assays were ordered, which revealed elevated serum, urinary catecholamines and metanephrines, chromogranin A and parathyroid hormone PTHi; table 1.
Though both CT and MRI have equal sensitivity in localizing PPGLs, use of T2-weighted MRI imaging is recommended especially in patients with metastatic PPGL, for detection pheeochromocytoma skull base and neck PGLs, patients with surgical clips, in patients jirnal an allergy to CT contrast and for patients in whom radiation exposure should be limited children, pregnant women, patients with known germline mutations, and those with recent excessive radiation exposure.
In particular, patients should be referred to such centers should there be pregnancy, metastatic disease, or issues concerning the complexity or difficulty in biochemical diagnosis; localization; performance, and interpretation of genetic testing; preoperative preparation; surgical treatment; and follow-up.
Lifelong follow-up is suggested to detect recurrent or metastatic disease.
Pheochromocytoma: clinical review based on a rare case in adolescence
Most patients also present with severe episodes of anxiety, nervousness, or panic attacks. Accuracy of recommended sampling and assay methods for the determination of plasma-free and urinary fractionated metanephrines in the diagnosis of pheochromocytoma and paraganglioma: Thus, it inhibits catecholamine synthesis in the brain as well as in the periphery, frequently causing sedation often sleepinessdepression, anxiety, and galactorrhea, and rarely causes extrapyramidal signs e.
There has been an extensive research in the field of PPGLs in the last decade that shed light on genetic etiology and multiple possible metabolic pathways that lead to these tumors. Nevertheless, recommendations regarding blood pressure and heart rate are supported by observational nonsystematic studies and personal experience rather than properly conducted prospective clinical studies.
Partial adrenalectomy increases the risk for tumor recurrence from the remnant.