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)

Between August 1975 and January 1981, 106 patients thought to have persistent or recurrent hyperparathyroidism underwent a total of 108 parathyroid re-explorations at the National Institutes of Health. These 106 patients had a total of 175 previous operations for hyperparathyroidism (156 cervical and 19 mediastinal). Nephrolithiasis (54% of patients) and bone disease (24% o patients) were the predominant symptoms. Arteriographic examination and selective venous sampling provided highly accurate localizing results in 33% of the patients, and were of some help in 64%. The final diagnoses after reoperation and re-evaluation were: single-gland disease in 58 patients, primary nonfamilial hyperplasia in 19 patients, familial hyperplasia in three patients, multiple endocrine neoplasia (MEN) Type I in ten patients, MEN Type II in two, parathyroid carcinoma in four patients, secondary hyperplasia in three patients, and familial hypocalciuric hypercalcemia (FHH) in two patients. The diagnosis was in doubt in five patients. In the 95 patients with unequivocal hyperparathyroidism, not due to parathyroid carcinoma, surgery eliminated hypercalcemia in 91 (96%). Two patients died after operation, one of disseminated candidiasis, and one patient, with an immunodeficiency, of sepsis. Five patients developed temporary, and one permanent, recurrent nerve damage; 41% of the patients were hypocalcemic, at the time of discharge from the hospital.
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PMID:Results of reoperation for persistent and recurrent hyperparathyroidism. 730 78

To evaluate the efficacy of subtotal parathyroidectomy (STP) in the treatment of primary hyperparathyroidism due to multiple gland disease, 12 patients with multiple endocrine neoplasia (MEN) type I syndrome were reviewed out of 132 patients undergoing parathyroidectomy. Each patient had yearly follow-up examinations and calcium determinations for a minimum of four years except for one patient who died one year after S.T.P. Permanent hypoparathyroidism occurred in three patients. Two patients remained persistently hypercalcemic, and two patients developed recurrent hypercalcemia. One patient required oral administration of calcium and vitamin D for ten years following STP before recurrent hypercalcemia developed. Another patient was normocalcemic for three years before recurrent hypercalcemia was noted. Only five of these 12 patients remain normocalcemic without need of calcium and vitamin D therapy. In patients with MEN type I, the long-term results of STP are less than satisfactory. Not only is it difficult to gauge how viable parathyroid tissue must be left to prevent both permanent hypoparathyroidism and persistent hyperparathyroidism but there is also a long-term risk of recurrence.
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PMID:Subtotal parathyroidectomy for primary chief cell hyperplasia of the multiple endocrine neoplasia type I syndrome. 745 47

A 38-year-old female was admitted for investigation of the cause of hypergastrinemia, hypercalcemia and an elevated plasma parathyroid hormone (PTH) level. Her siblings, elder brother and sister who had duodenal carcinoid tumor with hypergastrinemia and parathyroid adenomas, were diagnosed as multiple endocrine neoplasia (MEN) type 1. In the present patient, endoscopic examination showed a carcinoid tumor of the duodenum, but examinations by computed tomography (CT) and ultrasonography of the abdomen failed to reveal pancreatic lesions. Serum gastrin levels of this patient and her siblings improved to the normal level after resection of carcinoid tumors. The hypergastrinemia accompanying MEN type 1 in these cases might be due to carcinoid tumor of the duodenum.
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PMID:Multiple endocrine neoplasia type 1 accompanied by duodenal carcinoid tumors and hypergastrinemia: a familial case. 749 77

The rarity of primary hyperparathyroidism (PHPT) in multiple endocrine neoplasia type 2A (MEN 2A) led us to study clinical findings, surgical therapy and outcome in 67 patients in order to evaluate our therapeutic strategy. The retrospective study was based on cases registered by the EUROMEN study group (nine participating centres) from 1972 to 1993. Characteristics of PHPT in 67 patients (41 females, 26 males) with MEN 2A were reviewed. All patients underwent exploratory neck surgery; PHPT was confirmed histologically and/or biochemically. The median age at diagnosis of PHPT was 38 years. In 75% of the patients, PHPT and medullary thyroid carcinoma were diagnosed synchronously, while in 4%. PHT was diagnosed earlier. In 18% of the patients, PHPT was diagnosed after thyroidectomy, and in 3%, after discovery of pheochromocytoma. Primary hyperparathyroidism was asymptomatic in 84% of the patients; 15% suffered from renal stones. Serum calcium was slightly elevated in 69% (2.9 +/- 0.2 mmol-1) and normal in 16% of subjects. A single adenomectomy was performed in 42% of the patients, subtotal parathyroidectomy in 31% and total parathyroidectomy with autotransplantation in 16%. Independent from the extent of resection, cure was achieved in 94% of the patients, including 13% with hypoparathyroidism; hypercalcaemia persisted in 3% and no information was available in 3%. In an 8-year follow-up, hypercalcaemia recurred in 12% of the patients, although half had undergone parathyroidectomy totally or subtotally. CONCLUSION. MEN 2A-related PHPT is characterized by a mild hypercalcemia which is mostly asymptomatic and can be cured by simple resection of an enlarged parathyroid gland in most cases.
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PMID:Primary hyperparathyroidism in multiple endocrine neoplasia type 2A. 759 74

A five-generation kindred (19 affected, two obligate carriers and 20 unaffected) from Oklahoma USA, in which familial benign (hypocalciuric) hypercalcaemia (FBH) was associated with a developmental elevation in serum parathyroid hormone (PTH) levels, has been investigated for linkage to the candidate chromosomal regions 3q21-q24 and 19p13.3, 11q13, and 11p15, to which the genes for FBH, multiple endocrine neoplasia type 1 (MEN1) and PTH have been mapped respectively. By means of 17 polymorphic markers from these regions, linkage was excluded [LOD scores < -2.00 at (theta) = 0.05-0.25]. In addition, an analysis of multipoint crossovers and use of the LINKMAP program confirmed the exclusion from these regions. Thus, this form of FBH, designated the Oklahoma variant FBH(Ok), is not linked to markers that segregate with FBH, MEN1 and PTH; our results indicate further genetic heterogeneity and the presence of a third locus for FBH.
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PMID:Linkage studies in a kindred from Oklahoma, with familial benign (hypocalciuric) hypercalcaemia (FBH) and developmental elevations in serum parathyroid hormone levels, indicate a third locus for FBH. 763 67

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

The clinical and laboratory data, and histologic, electron microscopic and immunocytochemical findings of a carcinoid tumor of the lung associated with parathyroid hyperplasia and persistent hypercalcemia are described. The carcinoid tumor consists of uniform cuboidal cells with regular round vesicular nuclei and eosinophilic granular cytoplasm. The tumor cells were chromogranin and neuron-specific enolase positive. The CAT scan of the abdomen revealed an adrenal mass, 3 cm in diameter, and an enlarged body in the pancreas. Our patient is still suffering from hypercalcemia and renal colic, despite repeated parathyroid gland removal, and enucleation of the lung mass. Recent parathyroid scintigraphy with Tc revealed an enlarged parathyroid gland. The thoracic CAT scan is normal. We believe that our patient is suffering from multiple endocrine neoplasia type-1 with persistent hypercalcemia due to hyperparathyroidism.
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PMID:Carcinoid tumor of the lung and type-1 multiple endocrine neoplasia associated with persistent hypercalcemia: a case report. 781 97

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

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

Primary hyperparathyroidism is being increasingly recognized because of the widespread availability of biological screening, thus explaining that one third of the patients are nowadays asymptomatic at diagnosis. Initially based on the hypercalcemia-hypophosphoremia syndrome, its diagnosis is now depending upon biological measurements of AMPc, intact (1-84) parathyroid hormone and dynamic tests such as the oral calcium-loading test. A controversial issue is the use of sophisticated imaging methods (ultrasonography, computed tomography, thallium-technetium scanning, magnetic resonance imaging and more infrequently venous catheterization with blood sampling) to localize the abnormal parathyroid glands, which are clearly inferior to surgery with a 95% success rate. The lesions include single adenoma in 80%, multiple adenomas in 5%, cancer in 1% and hyperplasia in 14% of the cases. Moreover, among the majority of seemingly sporadic hyperparathyroidism, about 10% of the cases appear to be part of a multiple endocrine neoplasia which is frequently misdiagnosed or lately recognized. The questions remain (as to) whether the surgical strategy should be revisited and whether intraoperative histopathological examination of the removed abnormal gland is still needed to ensure excellence in the management of hyperparathyroidism. However, since its initial description in the early 80s, the concept of unilateral cervical exploration directed by an accurate localization study and intraoperative measurements of intact hormone could become in the future the standard approach for surgical treatment in more than half of the patients.
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PMID:[What is new in surgery for primary hyperparathyroidism?]. 793 46


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