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)

Pheochromocytoma accounts for about 0.1 per cent of patients with diastolic hyperstension. It mimics many diseases varying from anxiety psychoneurosis to intracranial tumors. Cardinal symptoms include sevre headache (72 to 92 per cent), sweating (60 tp 70 per cent), palpitations (51 to 73 per cent), and hypertension (> 90 per cent) of which 50 per cent is sustained, 50 per cent paroxysmal. Many drugs (phenothiazines, Saralasin, antiemetics, steroids, etc.) have been reported as precipitating factors. Patients who should be screened for pheochromocytoma include: (1) all symptomatic patients with sustained or paroxysmal hyperstension; (2) asymptomatic hypertension; (3) all patients with MEA 2a,b (hyperparathyroidism, medullary carcinoma of the thyroid, neurocutaneous lesions) and their first degree relatives, even if the latter are asymptomatic and normotensive; (4) hypertension plus diabetes mellitis or hypermetabolism; (5) hypertensive episode during induction of anesthesia or radiologic procedure; and (6) hypertensive response during histamine administration, i.e., gastric analysis. Urinary metanephrine is the single best screening test. Plasma catecholamine determination is particularly helpful when collected before and immediately after an attack. Provacative agents (histamine, glucagon, tyramine) are needed rarely. Preoperative localization of the tumor can be done with nephrotomography IVP, computerized axial tomography, ultrasound, 131-I-19-iodocholesterol scan, arteriography, venography.
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PMID:Pheochromocytoma: clinical manifestations and diagnostic tests. 745 90

Episodic vasomotor instability with flushing is an uncommon presentation that is suggestive of an endocrine etiology. This report is the case of a 42-year-old woman who presented to the ED 5 times in a 2-week period for recurrent, self-limited episodes of light-headedness associated with tachycardia, hypertension, and flushing. The patient's diagnosis eluded detection in both the outpatient and the inpatient settings for several months. The clinical diagnosis was ultimately confirmed by biochemical test samples obtained in the ED during a subsequent symptomatic event. The differential diagnosis of this patient's presentation includes pheochromocytoma, carcinoid syndrome, medullary thyroid carcinoma, systemic mastocytosis, and other endocrine and toxicologic diseases. ED management of the patient with transient yet significant vasomotor changes includes a workup for syncope, initiation of focused biochemical investigations, referral to the appropriate consultant, and consideration for admission.
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PMID:Recurrent near-syncope with flushing. 922 98

We experienced a case of MEN type 2a with bilateral and large pheochromocytomas. A 39-year-old man was admitted to the previous hospital with complaints of paroxysmal headache. hypertension and diabetes mellitus. Radiographic imagings showed thyroid tumors in both lobes and bilateral adrenal tumors. Thyroid tumors were histologically proved to be medullary thyroid carcinoma by needle biopsy and systemic investigations revealed an excessive secretion of plasma and urinary cathecholamines which suggested the presence of pheochromocytoma. The patient was diagnosed as MEN type 2a. He was admitted to our hospital for the treatment of bilateral adrenal tumors for which we performed one-stage bilateral adrenalectomy by thoracoabdmonal approach. Both adrenal tumors were histologically confirmed as pheochromocytoma. The patient's postoperative course was uneventful. He underwent uneventful total thyroidectomy approximately 2 months after bilateral adrenalectomy. Even in bilateral and large pheochromocytomas, one-stage bilateral adrenarectomyenables safe postoperative managements. We concluded that the thoracoabdominal approach is feasible in the patients with huge and cranially spreading adrenal tumor, which gives us a wide operative field for easy vascular control.
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PMID:[One-stage-bilateral adrenalectomy by thoracoabdominal approach for bilateral large pheochromocytomas in men type IIa. A case report]. 938 71

Ectopic ACTH secretion due to malignant tumours is the most frequently underdiagnosed form of Cushing's syndrome. The majority of neoplasms causing ectopic ACTH syndrome are small-cell cancers of the lung or carcinoids. Other well-documented cases include adenocarcinoma of the lung, medullary thyroid carcinoma, pancreatic islet tumours and malignant thymoma. We report a rare case of metastatic colonic adenocarcinoma with ectopic ACTH syndrome. Clinical features such as proximal muscle weakness, peripheral oedema, hypertension or hirsutism in women, or the presence of unexplained hyperglycaemia, hypokalaemia or metabolic alkalosis in patients with known malignancy strongly suggest ectopic ACTH syndrome. Removal of the source of ACTH is the treatment of first choice, but often not feasible. Most often, treatment modalities are only palliative, with drugs directed against hypercortisolism such as aminoglutethimide, metyrapone, ketoconazole or mifepristone.
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PMID:[Cushing syndrome due to ectopic ACTH secretion: an uncommon case presentation, diagnosis and therapy]. 1042 Apr 45

Pheochromocytomas are rare neoplasias of the adrenal medulla which generally present with paroxysmal or sustained hypertension. Cardiogenic pulmonary edema is a common feature of these tumors, but few cases have been described with noncardiogenic pulmonary edema. We report a pheochromocytoma with the principle manifestation of noncardiogenic pulmonary edema and characterize a genetic lesion associated with the disorder. A 30-year-old man was admitted with abdominal pain and breathlessness. x-Ray examination of the chest revealed a massive, diffuse infiltration of the left lung without cardiomegaly. No paroxysmal blood pressure fluctuations or heart failure were evident during the entire course, and the infiltrate and dyspnea resolved in three days without inotropic or diuretic agents. Serum norepinephrine and epinephrine levels were elevated twenty and fifty times above normal, respectively. The patient was ultimately diagnosed with multiple endocrine neoplasia type 2A (MEN 2A). Mutations in the RET proto-oncogene have been described recently in patients with MEN 2A. Mutation analysis of selected RET exonic sequences identified a germline mutation at codon 634 in exon 11 of the RET proto-oncogene. The mutation introduces a transition encoding a non-conservative substitution from TGC (Cys) to CGC (Arg) and creates a novel restriction site recognized by HhaI. We further screened for this mutation among four of the proband's relatives by HhaI restriction analysis. One asymptomatic family member was identified who subsequently elected prophylactic total thyroid removal. Histological examination of this specimen confirmed the presence of medullary thyroid carcinoma.
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PMID:Noncardiogenic pulmonary edema as the chief manifestation of a pheochromocytoma: a case report of MEN 2A with pedigree analysis of the RET proto-oncogene. 1052 79

To our knowledge, present case is the first published report of temporal bone findings in multiple endocrine neoplasia type 2B (MEN-2B). We describe a 43-year-old Japanese man with medullary thyroid carcinoma (MTC), pheochromocytoma, mucosal neuroma and a Marfanoid body habitus. The collateral adrenal tumors and MTC were removed surgically. However, 14 years after surgery, the MTC and pheochromocytoma recurred and the patient died of intracranial hemorrhage due to hypertension. During the autopsy, metastatic MTC was detected in the liver, lungs, kidneys, pancreas and cervical lymph nodes. Recurrent pheochromocytoma was present in the right kidney. Mucosal neuromas were found in the tongue, gastrointestinal tract and vesical nerve plexus. The following histopathological findings were seen in both temporal bones: metastatic MTC was found as well as neuromas and the cochlear aqueduct was widely patent.
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PMID:Temporal bone findings in multiple endocrine neoplasia type 2B. 1092 42

We examined a young man who had a benign giant cell granuloma of the maxilla, which we subsequently diagnosed as a brown tumor associated with hyperparathyroidism. During surgery for the granuloma, the patient developed severe hypertension and was discovered to have an extra-adrenal pheochromocytoma. Oncogene and calcitonin testing for medullary carcinoma of the thyroid was negative. Therefore, despite the presence of both pheochromocytoma and hyperparathyroidism, we concluded that this patient did not have multiple endocrine neoplasia type 2a.
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PMID:Maxillary giant cell granuloma, pheochromocytoma, and hyperparathyroidism without medullary thyroid carcinoma. 1096 67

In our clinic 19615 patients were operated over 25 years on for goiter. Malignant thyroid neoplasms were found in 1049 (5.3%) patients including 875 (83.4%) women and 174 (16.6%) men. Sixty two adult patients (42 women and 20 men were operated on for medullary thyroid carcinoma (MTC). Thyroid cancer was diagnosed in this group pre or intraoperatively in 44 (71%) patients and postoperatively, on histologic examination, in 18 (29%) patients. These patients were reoperated. Radical operations (total thyroidectomy with regional lymph node removal) were conducted in 43 (69.3%) patients and palliative ones in 19 (30.7%) patients. After MTC surgery, MEN 2A (MTC and an adrenal tumor) were diagnosed by means of imaging techniques (USG, CT) in 6 (9.7%) patients. All adrenal tumors were unilateral. Five of these patients were operated, and pheochromocytoma was confirmed by histopathologic examination. Two years after the MTC operation, 1 women was lost to follow-up. After a year, she was admitted to hospital for severe hypertension and died of cerebral hemorrhagia. Pheochromocytoma was revealed by autopsy. All patients were treated complementarily after the MTC operation. Different combinations of teleradiotherapy, chemotherapy and substitutive doses of levothyroxine were used. Ten (23.2%) of 43 patients operated radically were reoperated 1-3 years after the first operation due to loco-regional tumor recurrence. Radical reoperations were performed in 4 patients, and palliative ones in 6. Over a 0.5-23-year follow-up period, 26 (41.9%) patients died, including 20 of cancer, and 6 of other reasons. Four out of 36 living patients have clinical or biochemical symptoms of neoplastic disease. The follow-up period of MEN 2 patients operated on ranged from 1 to 6 years. Up to now, no tumor in the second adrenal gland has been diagnosed in any of these patients. Genetic (molecular) tests performed in 31 out of 36 living patients revealed mutations of RET gene in 4 (12.9%).
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PMID:Medullary thyroid carcinoma (MTC)--clinical and molecular aspects on the basis of own experience. 1113 Feb 52

Laryngeal paragangliomas are rare submucosal lesions that arise from paraganglion cells located in the false vocal fold and subglottic larynx. To date, 76 recognized cases have been reported in the world literature. Symptoms arise when the lesions become large enough to impair function. Supraglottic paragangliomas cause hoarseness and deglutition disorders, whereas subglottic tumors become symptomatic when they obstruct the airway. Evaluation of these tumors includes obtaining a complete history. Familial paragangliomas and hypertension should be sought but are rarely, if ever, associated with laryngeal paragangliomas. MRI can detect these lesions and permit characterization of the vascularity of the lesion. Adding 111In pentetreotide scanning can distinguish neuroendocrine tumors from other submucosal laryngeal lesions, making the preoperative diagnosis clearer and obviating the need for biopsy. The biggest dilemma regarding laryngeal paragangliomas is making the correct pathologic distinction between paraganglioma, typical carcinoid, atypical carcinoid and medullary thyroid cancer. Immunohistochemical markers, supplementing standard histopathologic evaluation, can distinguish paragangliomas from the aforementioned tumors. This distinction is critical as the prognosis for treated paragangliomas is excellent compared to that for other neuroendocrine neoplasms. Almost all alleged malignant paragangliomas of the larynx are in reality atypical carcinoid tumors that have been misdiagnosed. Treatment should always comprise excision. Thyrotomy has the best chance of achieving a sustained cure without damaging phonation or deglutition. Laser excision has been used successfully but there is no great experience with this modality. Surgery is preferable to radiation for paragangliomas in all locations but especially so in the larynx, due to issues such as swelling, airway protection and destruction of cartilage. With increased clinical suspicion and the use of modern imaging techniques, laryngeal paragangliomas should be routinely diagnosed and treated without loss of laryngeal functions.
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PMID:Laryngeal paraganglioma: an updated critical review. 1551 40

A 22-year-old woman complained of paroxysmal face flushing, palpitation and hypertension. CT scan revealed 55 mm mass in the right adrenal gland. Hormonal examination showed highly elevated urinary catecholamines and their metabolites excretion. Histological examination of the removed right adrenal gland confirmed the diagnosis of pheochromocytoma. 4 years later we observed the recurrence of similar symptoms. After the hormonal examination and CT imaging left adrenalectomy was performed, because of the presence of 33 mm diameter tumor in the left adrenal gland. Young age of our patient and occurence of bilateral pheochromocytomas suggested multiple endocrine neoplasia type 2. DNA sequence analysis of peripheral white blood cells revealed that codon 609 in exon 10 of the RET gene was mutated from TGC to CGC. During the further follow up of this patient we found 5 mm mass in the left lobe of the thyroid. Result of cytological examination of this focal mass and elevated calcitonin level in the pentagastrin test suggested the diagnosis of medullary thyroid cancer which was later confirmed after total thyeoidectomy based on results of histopathology of tumor. No metastatic changes was found. DNA analysis of the somatic mutation of the RET protooncogene was useful for the early detection of medullary thyroid cancer in the case of the 30-year-old patient with MEN 2A.
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PMID:[Late onset of medullary thyroid carcinoma with bilateral adrenal pheochromocytomas in the case of patient with MEN 2]. 1577 Nov 39


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