Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0020538 (hypertension)
 170,190 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a 6-year-old male with left-sided ptosis, aniscoria and an initially missed slow growing left-sided neck mass, which was surgically excised when he was 9 years old and confirmed to be a paraganglioma. Seven years later he developed recurrent symptoms and was found to have a recurrence in the anterior mediastinum. We also report on all cases of cervical paragangliomas registered with the Manchester Children's Tumour Registry (MCTR) for the 50-year period 1954-2004. Paragangliomas are very rare tumours in the head and neck but should be considered in the differential diagnosis of neck masses especially when presenting with Horner syndrome. Recurrent symptoms and signs of hypertension herald recurrence. As these tumours can form part of a familial syndrome, long-term follow-up is necessary. Family members should be screened for early detection.
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PMID:Cervical paraganglioma--a case report and review of all cases reported to the Manchester Children's Tumour Registry 1954-2004. 1676 19

Urinary hormone analysis is applied to detect an altered steroid hormone metabolism, an elevated production of biogenic amines and to non-invasively determine the protein hormone human beta-choriogonadotropin indicating a pregnancy. Occasionally, these determinations need to be complemented by plasma- or serum hormone analysis. Clinical data including current drug therapy and urinary creatinine as reference are required to interpret any urine analysis. Diseases to be investigated by steroid hormone analysis are excess production of a typical or atypical mineralocorticoid active steroid hormones, the hormonal activity of adrenal or ovarian tumors, acne of unknown origin, hirsutism, a PCO-, an adrenogenital or a suspected Cushing syndrome. Biogenic amines should be determined in suspected secondary or refractory arterial hypertension, in case of pheochromocytoma- or paraganglioma-associated symptoms or if a serotonin-producing tumor is suspected. In children genetically determined diseases are the primary background to perform an analysis.
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PMID:[Urinary hormone analysis]. 1704 68

A 19-year-old female patient presented with headache, nausea, hypertension, visual impairment of the left eye and exertion-related complaints of palpitations since 1 year. Fundoscopy showed severe hypertensive retinopathy grade IV. A paraganglioma in the left para-aortic region was diagnosed by urinary screening and magnetic resonance imaging scanning. The tumor was resected by a robot-assisted laparoscopic procedure. The surgical operating time was 250 minutes and the blood loss was 150 mL. After surgery the blood pressure normalized and antihypertensive drugs were no longer required. Oral intake was resumed on the first postoperative day and the hospital stay was 3 days. Final pathology examination revealed a paraganglioma with pheochromocytomal features of 7x5.1x3.5 cm. Reports on laparoscopic resection of large paragangliomas are scarce. This case has demonstrated that the procedure is feasible and associated with rapid recovery from surgery. The surgical team experienced explicit support by the robot in the dissection of this highly vascularized tumor.
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PMID:Robot-assisted laparoscopic resection of a large paraganglioma: a case report. 1705 84

A majority of incidentally found adrenal tumors derive from the adrenal cortex. The aim of our study was evaluation of the incidence of chromaffin tumors in a group of 1,111 patients with adrenal incidentalomas. In this group there were 803 women and 308 men, aged 10-87 years. Clinical examination, imaging studies (ultrasound scans, CT, and MRI if necessary), and hormonal determinations (cortisol, ACTH and androgens in the blood, dexamethasone suppression test, urinary excretion of 17-OHCS, aldosterone and 17-KS, as well as PRA/aldosterone stimulation test and metanephrines in hypertensive patients and those with density in CT over 20 HU) were used. In 380 patients treated by surgery (mainly by laparoscopic approach), histological and immunocytochemical examinations were performed. Clinical examination revealed hypertension in 25% of the patients under study. Chromaffin tumors were detected in 43 patients, 33 women, and 10 men aged 20-75 years: pheochromocytoma in 36 (malignant in 3); chromaffin cells hyperplasia in 2; paraganglioma in 3; ganglioneuroblastoma in 1; ganglioneuroma in 1; and schwannoma in 2. The tumors' diameter ranged between 1.1 and 20.0 cm, density=25 Hounsfield units (HU) or more before contrast medium injection. Hypertension was present in 53% of these patients. The urinary metanephrines excretion was elevated in 31 of 38 patients, in whom the determinations were done. Chromaffin tumors were detected in 4% (pheochromocytomas in 3%) of 1,111 patients with adrenal incidentalomas. Malignancy was present in 9% of 43 patients with chromaffin tumors. High density in CT was a very important diagnostic finding in the incidentally found medullary tumors.
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PMID:1,111 patients with adrenal incidentalomas observed at a single endocrinological center: incidence of chromaffin tumors. 1710 70

Pheochromocytoma (Pheo) is a rare cause of hypertension (HTN). Classically, a triad of symptoms includes sweating, palpitations, and headache. HTN is often present and labile. Although a triad of symptoms is cited as the most frequent presenting complaints, our clinical experience leads us to question how often these are present. Thirty-two patients with histologically proven pheo or paraganglionoma were evaluated. Around 84.4% patients had adrenal pheos and 15.6% had extra-adrenal pheos. Two patients had bilateral adrenal tumors, two had a history of prior pheos, and four had a family history of pheo. There were 19 (59.4%) female and 13 (40.6%) male patients. Six (18.7%) patients were black and 26 (81.3%) were white. The mean age at presentation was 43.2+/-13.9 years. Two patients were known to have neurofibromatosis type 1, two had von Hippel-Lindau disease, one had multiple endocrine neoplasia 2A, and one PGL/SDHD genetic mutation. Twenty-six patients had sporadic tumors or had not had genetic testing. Biochemical diagnosis was confirmed with 24-h urine measurements. Urine catecholamine measurements were elevated at least 2 to 4 times above normal levels. Mean SBP readings at presentation were 128+/-19 mmHg. Mean DBP readings were 81+/-13 mmHg. Around 65.6% patients were hypertensive at presentation. Fifty percent of the patients had palpitations, 40.6% had tachycardia, 34.4% had sweating, and 31.3% had headaches. Initial presenting symptoms were diverse. Pheo is a rare clinical entity and remains a huge diagnostic challenge for all clinicians.
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PMID:Lack of symptoms in patients with histologic evidence of pheochromocytoma: a diagnostic challenge. 1710 71

To assess the prevalence of genetic mutations in nonsyndromic pheochromocytoma/paraganglioma (PHEO/PGL) patients we have performed a systematic search for mutations in the succinate dehydrogenase (SDH) B, C, and D subunits, von Hippel-Lindau (VHL), and RET genes by direct bidirectional sequencing. Patients were selected from the medical records of hypertension centers. After exclusion of syndromic patients, 45 patients with familial (F+, n=3) and sporadic (F-, n=42) cases of isolated PHEO/PGL were considered. They included 35 patients with PHEO, 7 with PGL, and 3 with head/neck PGL (hnPGL). Three patients with PHEO (2F-, 1F+) presented VHL mutations (P86A, G93C, and R167W), six with PGL (4F-, 2F+) were positive for SDH or VHL mutations (SDHB R230G in two patients, SDHB S8F, R46Q, R90Q, and VHL P81L in one subject each), and one with hnPGL carried the SDHD 348-351delGACT mutation. We have also detected missense (SDHB S163P, SDHD H50R and G12S), synonymous (SDHB A6A, SDHD S68S), and intronic mutations that have been considered nonpathological polymorphic variants. No mutation was found in SDHC or RET genes. Our data indicate that germline mutations of VHL and SDH subunits are not infrequent in familial as well as in sporadic cases of nonsyndromic PHEO/PGL (overall, 12 of 45 probands, 22%). Accordingly, screening for such mutations seems to be justified. However, a more precise characterization of the functional relevance of any observed sequence variant and of other genetic and environmental determinants of neoplastic transformation is essential in order to plan appropriate protocols for family screening and follow-up.
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PMID:Genetic mutation screening in an italian cohort of nonsyndromic pheochromocytoma/paraganglioma patients. 1710 82

The prevalence of malignant pheochromocytoma is about 10%, and is somewhat higher for paraganglioma. A problem for clinical follow-up is that patients with "benign" histopathologic findings may develop metastatic disease. At the first international symposium on pheochromocytoma in Bethesda (2005) experts from different disciplines and patients shared their experiences, and the present knowledge of this rare disease was updated. The discussion related to future strategies for better clinical/histopathologic diagnosis and understanding of different geno- and phenotypes. Curative surgery can only seldom be performed because of multiple metastases. The main therapeutic goal is therefore often tumor reduction and control of hypertension. To date the best adjunct to surgery is radionuclide therapy using 131I-MIBG, but the background information for optimal treatment is still incomplete. Certain patients may benefit from 131I-MIBG combined with radiotherapy via somatostatin receptors expressed by the tumor, or the combination with chemotherapy. The need for future multicenter studies was emphasized. In experimental models the work on enhanced expression of amine transporters critical for radiotherapy is continued. Ongoing microarray studies will reveal novel intracellular pathways of importance for proliferation/cell cycle control, which can be inhibited by pharmacologic tools.
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PMID:Malignant pheochromocytoma: state of the field with future projections. 1710 14

An extra-adrenal pheochromocytoma is known as a paraganglioma. This report describes a patient with a rare primary functioning hepatic paraganglioma that resulted in hypertension. Computed tomography showed a highly vascular lesion located in segment 6 of the liver; it measured 6 x 5.5 cm. A right hemihepatectomy was subsequently performed; this was followed by an uneventful recovery and the disappearance of hypertension. The imaging characteristics and therapeutic principles of this rare tumor were gleaned from a review of the literature. Identification of this malignant tumor or possible recurrence is difficult, so longterm follow-up is recommended.
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PMID:Primary functioning hepatic paraganglioma: a case report. 1714 18

Catecholamine-producing tumors may arise in the adrenal medulla (pheochromocytomas) or in extraadrenal chromaffin cells (secreting paragangliomas). Their prevalence is about 0.1% in patients with hypertension and 4% in patients with a fortuitously discovered adrenal mass. An increase in the production of catecholamines causes symptoms (mainly headaches, palpitations and excess sweating) and signs (mainly hypertension, weight loss and diabetes) reflecting the effects of epinephrine and norepinephrine on alpha- and beta-adrenergic receptors. Catecholamine-producing tumors mimic paroxysmal conditions with hypertension and/or cardiac rhythm disorders, including panic attacks, in which sympathetic activation linked to anxiety reproduces the same signs and symptoms. These tumors may be sporadic or part of any of several genetic diseases: familial pheochromocytoma-paraganglioma syndromes, multiple endocrine neoplasia type 2, neurofibromatosis 1 and von Hippel-Lindau disease. Familial cases are diagnosed earlier and are more frequently bilateral and recurring than sporadic cases. The most specific and sensitive diagnostic test for the tumor is the determination of plasma or urinary metanephrines. The tumor can be located by computed tomography, magnetic resonance imaging and metaiodobenzylguanidine scintigraphy. Treatment requires resection of the tumor, generally by laparoscopic surgery. About 10% of tumors are malignant either at first operation or during follow-up, malignancy being diagnosed by the presence of lymph node, visceral or bone metastases. Recurrences and malignancy are more frequent in cases with large or extraadrenal tumors. Patients, especially those with familial or extraadrenal tumors, should be followed-up indefinitely.
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PMID:Pheochromocytomas and secreting paragangliomas. 1715 52

Insulin-secreting pancreatic tumors and insulin-like growth hormone-secreting non-islet cell tumors can cause hypoglycemia. However, insulin-releasing paraganglioma or pheochromocytoma has almost never been reported. A 67-year-old female patient was admitted to our hospital because of headache, palpitation, perspiration, faintness, frequent sense of hunger and absent-mindedness. These intermittent symptoms had begun approximately a year before admission. On physical examination, she had high blood pressure of 150/90 mm Hg. Hormonal studies demonstrated increased urinary norepinephrine levels, and hyperinsulinemic hypoglycemia was confirmed while the patient was symptomatic. Abdominal MRI revealed a retroperitoneal mass measuring 4.5 cm in the pancreatic region. She was treated with an alpha-blocking agent to control blood pressure preceding the removal of the mass. Histopathological diagnosis was paraganglioma, and immunohistochemically insulin staining in the neoplastic cells was demonstrated. Her blood pressure normalized and hypoglycemia relieved after the operation. The patient did not have recurrence of hypoglycemia after a year of follow-up. Paraganglioma is a rare tumor of the neural crest, and co-secretion of insulin and catecholamines has been reported only by a single case report in the literature. The present patient is another case with this co-secretion.
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PMID:Hypoglycemia due to ectopic release of insulin from a paraganglioma. 1728 22


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