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

Wermer's syndrome (or multiple endocrine adenomatosis type I) is a hereditary condition characterized by tumours or hyperplasia involving multiple endocrine organs. Most commonly the pituitary and parathyroid glands and the pancreas are involved. We record a further case, the patient presenting with acromegaly due to a pituitary adenoma, hypercalcaemia due to a parathyroid adenoma and peptic ulceration.
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PMID:Wermer's syndrome. A case report. 611 Nov 32

In approximately 20% of the cases the Zollinger-Ellison syndrome (ZES) is associated with primary hyperparathyroidism (HPT). In view of this frequent association, serum calcium and phosphorus levels should be measured in all patients with ZES. Conversely, all patients with HPT I accompanied or preceded by peptic ulcer and/or diarrhoea should have their gastric acid secretion and serum gastrin level measured. Since the association may reflect a type I multiple endocrine neoplasia (MENI), involvement of other endocrine systems, notably the pituitary gland, should be investigated in the patients and their family. A rise in basal plasma pancreatic polypeptide has been observed in about 50% of cases of familial MEN I (Wermer's syndrome) and appears to be a good index of pancreatic endocrine tumour. When ZES is associated with HPT I, the latter should be treated first for three reasons: (7) lethal acute hypercalcaemia may occur after abdominal surgery; (2) HPT I itself may increase the gastric acid secretion and hypergastrinaemia of the ZES, and (3) parathyroidectomy and medical treatment with gastric antisecretory drugs may postpone the need for total gastrectomy.
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PMID:[Hyperparathyroidism associated with Zollinger-Ellison syndrome. 4 cases (author's transl)]. 612 5

We report the case of a 43 year old man with multiple endocrine neoplasia (Zollinger-Ellison syndrome-hyperparathyroidism) diagnosed during investigations for a severe ulcer with diarrhoea. The history suggested Zollinger-Ellison syndrome, especially as basal acid production and blood gastrin levels were high. Hypercalcaemia and low blood phosphate levels suggested hyperparathyroidism, which was confirmed by ultra-sound of the neck, showing two parathyroid adenomas. The aim of treatment was two-fold: suppress the hyperparathyroidism and treat the Zollinger-Ellison syndrome. The approach is surgical in most cases, but the tumour is often impossible to remove and total gastrectomy has become rare with the progress in anti-secretory therapy. When the tumour behind a case of Zollinger-Ellison syndrome cannot be found, complementary chemotherapy is indicated. Other endocrine lesions must always be sought and the family investigated to exclude Wermer syndrome.
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PMID:[Multiple endocrine neoplasms associated with Zollinger-Ellison syndrome and hyperparathyroidism]. 615 41

Three patients with the Verner-Morrison syndrome due to pancreatic tumours are reported; all had an overproduction of calcitonin and hypercalcemia. In two cases the hypercalcitoninaemia was due to an ectopic secretion from the pancreatic tumour, but in one the source could not be determined with certainty. Hypercalcemia in the Verner-Morrison syndrome might be due to simultaneous hyper-parathyroidism (MEA I) or secretion from the tumour of a substance or substances with calcium-elevating properties. Streptozotocin was of beneficial value in treating these patients. None of the patients became diabetic or had any other side effects of the therapy except for nausea and vomiting.
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PMID:Hypersecretion of calcitonin in patients with the Verner-Morrison syndrome. 626 4

Although IAPP was first discovered and isolated from amyloid deposits in an endocrine pancreatic tumour (EPT), surprisingly few reports have investigated the potential use of IAPP as a marker for neuroendocrine tumour growth. In this study we present results from plasma measurements of IAPP in 102 patients with neuroendocrine tumours. Four of 35 patients (11%) with midgut carcinoid tumours, but none of the patients (4 and 5, respectively) with lung carcinoids or with rectal carcinoids displayed elevated plasma levels of IAPP. Five of 31 patients (16%) with sporadic EPT and 3 of 27 patients (11%) with EPT and multiple endocrine neoplasia type 1 syndrome disclosed elevated IAPP levels. Within the different syndromes, 1/11 individuals with insulinoma, 2/16 with gastrinoma, 0/2 with glucagonoma, 0/3 with VIPoma and 5/26 with non-functioning tumours showed elevated plasma levels of IAPP. In two patients, the plasma IAPP levels were extremely elevated. These patients also exhibited altered glucose homeostasis. In response to a standardised mixed meal test, IAPP increased in parallel to the insulin, pancreatic polypeptide, gastrin and glucose responses. In MEN1 patients with hypercalcaemia due to increased secretion of parathyroid hormone, the plasma levels of IAPP were significantly higher before than after surgical removal of the parathyroid adenomas. However in normocalcaemic patients, no correlation between the blood calcium and plasma IAPP levels was found. Immunocytochemical staining of tumour tissue showed that 9/13 (69%) of insulin producing tumours, 4/14 (29%) of non-functioning tumours and 1/9 (11%) of gastrin producing tumours were IAPP immunoreactive. Amyloid deposits were always IAPP immunoreactive. In conclusion, increased circulating levels of IAPP occurred in 12% of 102 patients with neuroendocrine tumours. In 2 patients with extremely elevated plasma levels of IAPP, effects on glucose homeostasis were recorded. Thus, IAPP may be useful as an additional marker for neuroendocrine tumour growth in selected cases.
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PMID:Islet amyloid polypeptide (IAPP) in patients with neuroendocrine tumours. 775

A 38-year-old man with multiple endocrine neoplasia type-1 (Wermer's syndrome) is described. The patient had refractory duodenal ulcers and raised basal acid output (55 mmol/hour) and fasting serum gastrin (1190 pg/ml). Abdominal CT scan revealed mass lesions (gastrinomas) in the head of the pancreas. He also had persistent hypercalcemia, hypophosphatemia, right ureteric calculi, increased urinary calcium and phosphorus and enlarged parathyroids on ultrasound and CT of the neck. Parathormone level was raised, but the pituitary gland was normal on CT scan of the head. The patient was managed initially with histamine H2-blockers, omeprazole and parathyroidectomy; enucleation of the tumor masses in the pancreas was done subsequently.
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PMID:Multiple endocrine neoplasia type-1. 782 46

We have treated 30 patients with hypercalcemia from 1984 to 1991. Twenty four out of 30 patients were associated with primary hyperparathyroidism and the other six were associated with malignancy. Of 24 cases primary hyperparathyroidism, 15 were due to single parathyroid adenoma, five to MEN 1 and one to familial hyperparathyroidism. In the other three cases, it was difficult to identify the cause of the hyperparathyroidism. Following conclusions were obtained: 1. Hypercalcemia shows no specific and characteristic symptoms, so it is essential to keep hypercalcemia in mind in diagnosis of patients with vague or general complaints. Malignancy associated hypercalcemia shows high serum calcium level and PTH level. When considering malignancy, it is easy to diagnose that it might be the cause of hypercalcemia. 2. When serum PTH is over 2000pg/ml (high sensitivity PTH assay) in primary hyperparathyroidism, the probability of swelling of multiple parathyroid glands should be considered in evaluation of localization study and surgery. When serum PTH is high or swelling of multiple glands is found. It is essential to evaluate the possibility of MEN 1.
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PMID:[Analysis of 30 patients with hypercalcemia]. 790 47

Familial isolated hyperparathyroidism (FIHP) is a rare heritable disorder characterized by hypercalcemia, inappropriately high PTH levels, and isolated parathyroid tumors with no evidence of hyperfunction of any other endocrine tissues. To establish whether FIHP exists as a distinct disease entity or represents a variant of any of the known multiple endocrine neoplasia (MEN) syndromes, we tested 19 members of a large, well characterized family with FIHP in which the disease is transmitted through 4 generations in an autosomal dominant fashion. Fourteen DNA markers at 10 polymorphic loci closely linked to the MEN1 locus on the long arm of chromosome 11 and 5 markers close to the MEN2A gene on chromosome 10 were tested using Southern blot analysis and polymerase chain reaction-based techniques. Additionally, two polymorphic markers (Mir1 and Mir2) within the prepro-PTH gene on the short arm of chromosome 11 were analyzed using denaturant gradient gel electrophoresis. Linkage was clearly excluded between FIHP and the MEN1 and MEN2A loci as well as to the PTH gene. Comparison of constitutional and tumor genotypes showed that constitutional heterozygosity was retained for markers in the MEN1 and MEN2A regions as well as to the PTH gene in 4 tumors from 3 affected members. In 1 individual, a parathyroid carcinoma was found after recurrence of hypercalcemia. We, therefore, propose that autosomal dominant FIHP can occur as a genetically and clinically distinct entity with an increased risk of malignant transformation of parathyroid tumors.
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PMID:Familial isolated hyperparathyroidism: a distinct genetic entity with an increased risk of parathyroid cancer. 790 11

Generalized parathyroid hyperplasia with superimposed clonal tumor growth is the most frequent expression of the MEN 1 trait and must be corrected surgically. The Zollinger-Ellison syndrome is an indication for early and aggressive control of hypercalcemia. If gastrin secretion is normal, early parathyroid surgery is usually not required; and to delay the operation will facilitate location of all parathyroid glands, a requisite for successful surgery. The best surgical approach is an extensive primary dissection including thymectomy, followed by total parathyroidectomy with autogenous parathyroid grafting. Parathyroid disease in MEN 2 is less frequent and of later onset. It usually takes secondary consideration to the cure of the C-cell neoplasm. Several other less common hereditary syndromes with parathyroid involvement are reviewed.
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PMID:Management of hyperparathyroidism in the multiple endocrine neoplasia syndromes and other familial endocrinopathies. 791 26

Multiple endocrine neoplasia (MEN) Type I syndrome is a rare tumor of unknown etiology with a prevalence of 0.02 to 0.2 per 1000. Some of the tumors associated with MEN I include pituitary adenomas, parathyroid adenomas, hyperplastic tissue, and pancreatic B and non-B islet cell tumors. The clinical presentation is usually secondary to the specific hyperfunction characteristic of the different endocrine glands. Hyperparathyroidism and hypercalcemia precede all other manifestations in the majority of cases. Surgery plays a major role in management, and the condition should be considered when a tumor is diagnosed along the endocrine axis of glands, especially in hyperparathyroid patients.
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PMID:Surgical aspects of MEN I syndrome. 865 21


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