Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0020437 (hypercalcemia)
 10,293 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report the case of a patient with Verner-Morrison syndrome due to a malignant MEN I-associated vipoma. Marked tumor-associated hypercalcemia could be treated successfully with somatostatin analogues prior to surgical therapy of the pancreatic tumor. Sixteen months after extirpation of the primary tumor recurrent tumor growth was diagnosed; at this time the patient was clinically asymptomatic and had no abnormal laboratory test results. Liver metastases and local metastases were identified using somatostatin receptor scintigraphy. We report and discuss the use of somatostatin in the treatment of tumor-associated symptoms in endocrine tumors and the possibility of identifying endocrine tumors by means of somatostatin receptor scintigraphy.
 ...
PMID:[Somatostatin in preoperative therapy and postoperative diagnosis of a patient with Verner Morrison syndrome]. 128 41

We describe the rare case of a 19 year-old patient with multiple endocrine neoplasia (Wermer syndrome), presenting with insulinomas as well as primary hyperparathyroidism. Echocardiography revealed evidence of calcific deposits in the interventricular septum. The latter may be explained by long-standing hypercalcemia.
 ...
PMID:[Myocardial calcinosis in a juvenile patient with Wermer syndrome (multiple endocrine neoplasia type I)]. 136 28

Hypercalcemia occurring in a patient with an islet cell carcinoma of the pancreas suggests the diagnosis of Multiple Endocrine Neoplasia Type I and associated hyperparathyroidism. We describe a patient with an islet cell carcinoma and hypercalcemia in whom low concentrations of PTH, the absence of skeletal metastases, hypophosphatemia, and elevated nephrogenous cAMP alternatively suggested the syndrome of humoral hypercalcemia of malignancy. The peptide PTHrP was measured in the patient's serum during the course of therapy by an immunoradiometric assay directed toward the midportion of the molecule. Hypercalcemia was treated with an investigational aminobisphosphonate. The concentration of PTHrP[56-86] increased over time and fell after the patient received chemotherapy directed toward the islet cell tumor.
 ...
PMID:Parathyroid hormone-related peptide mediates hypercalcemia in an islet cell tumor of the pancreas. 166 81

A review of 106 patients with multiple endocrine neoplasia (MEN) type 1 reported between 1966-1989 in Japan was conducted in order to clarify the natural history of this disease. Sporadic MEN 1 was found in 61 patients, and familial MEN 1 was found in 45 patients from 15 families. The mean ages at diagnosis of the two groups were 46.2 and 41.3 years, respectively, and the male to female ratio was 3:4. With regards to the involvement of the pituitary, parathyroid and endocrine pancreas, the combination of three endocrine glands was 31%, and that of two was 48%, in which the pituitary, parathyroid and endocrine pancreas had tumorous lesions in 60%, 88% and 63%, respectively. The first clinical manifestations of MEN 1 were the symptoms of hyperparathyroidism (32%), pituitary tumors (26%), peptic ulcer (28%) and hypoglycemia (13%). These symptoms appeared between 6 and 57 years of age (mean 34 years). The main clinical symptoms of the pituitary tumors were acromegaly and gigantism (37%), galactorrhea-amenorrhea syndrome (20%), Cushing's disease (10%) and visual disturbance due to compression of the tumor (20%). The clinical manifestations of hyperparathyroidism were mainly asymptomatic hypercalcemia (41%), nephrolithiasis (42%) and osteitis fibrosa (5%). In the patients with pancreatic tumor, Zollinger-Ellison syndrome (52%) and hypoglycemic symptoms (42%) were found. Tumors in the adrenal cortex, thyroid, carcinoid and lipoma were detected in association with MEN 1 in the frequencies of 28%, 21%, 9% and 5%, respectively. Death was reported in 37 patients between 9 and 86 years of age (mean 50.0 years). The cause of death was gastrointestinal bleeding and perforation (45%), surgery (24%) and disseminated carcinomatosis (18%). Recently, the gene predisposing to this syndrome has been assigned to chromosome 11 (11q13) in non-Japanese cases but not yet in Japanese MEN 1 patients.
 ...
PMID:[Clinical characteristics in multiple endocrine neoplasia type 1 in Japan: a review of 106 patients]. 167 21

A large previously reported family with hyperparathyroidism has been reinvestigated recently because of the occurrence of multiple ossifying jaw fibromas in two affected members of the third generation similar to the jaw tumors of four of five affected members of the first generation. These maxillary and mandibular tumors can be differentiated from the "brown tumors" of hyperparathyroidism because they can appear and enlarge even though the hypercalcemia is surgically corrected. These tumors are histologically distinct fibroosseous lesions without the giant cells seen in "brown tumors." The parathyroid enlargement was mostly uniglandular, with multiple tumors found occasionally. Studies in DNA linkage were performed within this large family and a similar family in Houston to determine if the gene for this syndrome, termed HRPT2, is linked to DNA markers on chromosome 11, to which the gene for multiple endocrine neoplasia (MEN) type 1 has been linked. (This linkage is supported by our findings in one family with MEN 1 reported here.) Linkage studies were also performed with markers on chromosome 10, to which the genes for MEN 2A and MEN 2B have been linked. Evidence against close linkage with chromosome 10 and chromosome 11 markers suggests that this clinically distinct syndrome is also genetically distinct.
 ...
PMID:Hereditary hyperparathyroidism and multiple ossifying jaw fibromas: a clinically and genetically distinct syndrome. 212 61

The authors report on various diagnostic pitfalls on 102 patients having undergone exploratory cervicotomy for primary hyperparathyroidism. A false positive diagnostic error was made on 2% of the cases, bringing to 100 the number of patients with a confirmed diagnosis of primary hyperparathyroidism. False negative diagnosis was made on 4% of the patients: two late diagnoses leading to an acute toxic state and death postoperatively in both cases; two pure psychiatric variants leading to repetitive hospitalizations in psychiatry. Error in diagnosis because of a masking effect was made in 4% of the cases:--one association with a clear cell nephro--epithelioma--one association with a multiple myeloma--two associations with a benign monoclonal gammapathy. The absence of hypercalcemia, a diagnostic pitfall in the modern form of this disease was found in 7% of the cases. PTH hypersecretion which is virtually a constant finding in the normocalcemic form of the disease obviates in most cases the need of a bone biopsy and quantitative histomorphometric analysis. The association with another endocrinopathy was found in 12% of the cases (2 MEN I, 1 MEN II, 9 hyperthyroidism). Because of its high frequency in the aged (22% greater than 75 years) the diagnosis of this disease is difficult for its signs are mimicked as well by the aging process. The preoperative topographic diagnostic error is avoided since there doesn't seem to be any test which would preclude the normal surgical procedure of carefully exploring all 4 topographic sites of the parathyroid. Surgical errors can be numerous but minimized with the increasing experience of the operator. Histological errors are seen mainly in the normocalcemic variety where only electron microscopy can detect the typical signs of cellular hyperactivity.
 ...
PMID:[Primary hyperparathyroidism. Apropos of 102 recent exploratory cervicotomies: diagnostic and clinical pitfalls]. 264 28

During the 13-year period 1970-1983 only 7 cases of multiple endocrine neoplasia type I (MEN I) were seen at Groote Schuur Hospital, suggesting that the associated gene is rare in this area. Only 1 of these patients was black. Endocrine associations were as follows: hyperparathyroidism--6 cases, pituitary hypersecretion--6 cases (3 each involving growth hormone and prolactin), and pancreatic hypersecretion--3 cases (2 of gastrinoma and 1 of insulinoma). The presenting features were predictably diverse and depended on the component which manifested first. There was little difficulty in reaching a diagnosis on routine investigation. All patients with hyperparathyroidism underwent a 3 1/2-gland parathyroidectomy as the first treatment procedure, normocalcaemia being achieved in 5 cases, but persistent hypercalcaemia in the 6th suggested a supernumerary gland. A pituitary adenoma was removed in 4 cases, but persistent prolactinaemia necessitated bromocriptine therapy in 3. Successful distal pancreatectomy was undertaken in a patient with insulinoma and a patient with gastrinoma, and a further patient with gastrinoma awaits surgery. The overall prognosis in cases of MEN I appears to depend on the most aggressive component, often the pancreatic lesion; our patients have run a surprisingly benign course with only 1 late death, from hypertensive heart disease.
 ...
PMID:Multiple endocrine neoplasia type I. 286 78

In patients with hypercalcemia with abdominal symptoms, gastrin concentration is often measured to exclude the Zollinger-Ellison syndrome. We found that interpretation of such measurements is clouded by a contradictory literature. We therefore measured serum gastrin concentrations in 78 patients with primary hyperparathyroidism, 36 with nonparathyroid hypercalcemia, 13 with hypocalcemia, and 33 normocalcemic controls. Gastrin values above normal occurred in 22% of those with primary hyperparathyroidism and 28% of those with nonparathyroid hypercalcemia. Values above 250 pg/mL occurred only in those with hypochlorhydria or multiple endocrine neoplasia, type 1 (MEN 1). After parathyroidectomy, gastrin levels fell significantly, but elevated values tended to recur in those with MEN 1 if hypercalcemia recurred. Thus, chronic hypercalcemia of either parathyroid or nonparathyroid origin may elevate serum gastrin concentrations, but marked elevations suggest either achlorhydria or MEN 1.
 ...
PMID:Serum gastrin level is increased by chronic hypercalcemia of parathyroid or nonparathyroid origin. 286 39

Management of patients with multiple endocrine neoplasia type I (Wermer's syndrome) who have concurrent hypercalcemia and hypergastrinemia is controversial. The usual therapeutic approach has been to perform parathyroidectomy first before surgery for ulcer disease in an effort to decrease serum calcium concentration and presumably remove one of the stimuli for both gastrin and gastric acid secretion. We present the history of a 48-year-old man with primary hyperparathyroidism and Zollinger-Ellison syndrome who underwent acid secretory studies and secretin stimulation tests before and after parathyroidectomy. We also studied the effect of calcium channel blockade on gastrin and gastric acid secretion, since calcium influx into endocrine cells, such as the gastrinoma cell, is thought to be critical in hormone secretion. Although parathyroidectomy reduced serum calcium and parathormone levels to normal, basal serum gastrin concentration and basal acid output remained unchanged. The peak rise in serum gastrin concentration after secretin injection was less after parathyroidectomy than before parathyroidectomy but was still abnormal. During administration of verapamil, a calcium channel antagonist, no change was seen in the serum gastrin concentration, secretin test response, or acid secretion. Basal acid output was 45.4 mmol/hr before parathyroidectomy or verapamil and 54.0 and 50.4 mmol/hr after parathyroidectomy or verapamil, respectively. In contrast, a small but significant decrease (p less than 0.05) in serum parathormone concentration occurred during treatment with verapamil, an observation that to the best of our knowledge has not been previously reported in humans.
 ...
PMID:Lack of effect of parathyroidectomy or calcium channel blockade on serum gastrin concentration and gastric acid secretion in a patient with hyperparathyroidism and Zollinger-Ellison syndrome. 379 19

A family with Multiple Endocrine Adenomatosis Type 1 (MEA 1) is described. Of the 59 members, 15 were affected. Zollinger-Ellison syndrome was present in six individuals of whom the five available for study had hyperparathyroidism. The youngest of these patients with Zollinger-Ellison Syndrome was 25 years old. Hyperparathyroidism alone was present in nine individuals of whom the eldest was 30 years old. Three other members had raised serum gastrin levels but lacked symptoms suggestive of Zollinger-Ellison syndrome and in these individuals, the serum calcium levels were normal. A review of the literature confirms the finding that, in MEA 1, Zollinger-Ellison syndrome has not been shown to occur in the absence of hypercalcaemia. Screening of affected members of such families can therefore be restricted to the measurements of serum calcium levels.
 ...
PMID:Hyperparathyroidism: a prerequisite for Zollinger-Ellison syndrome in multiple endocrine adenomatosis Type 1--report of a further family and a review of th literature. 610 54


1 2 3 4 5 6 7 Next >>