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)

We present case report of primary hyperparathyroidism treated surgically as well as a review of literature concerning this subject. The disease of not well known etiology presents with elevated parathormon levels and hypercalcemia. Primary hyperparathyroidism which states 85% percent of all kinds of hyperparathyroidism is usually parathyroid adenoma, in 11-15% glandular hyperplasia and in 1-4% parathyroid cancer. Clinical symptoms are muscle weakness and fatigue, nephrolithiasis, occasionally peptic ulcers, pancreatitis, hypertension. Laboratory test reveal increased level of PTH, hypercalcemia, elevated alkaline phosphatase levels and decreased phosphorus levels. Diagnostic imaging techniques such as ultrasonography, MRI or CT have sensitivity about 52-75%. Highest sensitivity in localization of ectopic parathyroid adenoma has sestamibi scintigraphy with technetium-99. Skeleton x-rays show typical changes in distal parts of bones and osteopenia. Treatment of choice is surgical excision of adenoma. Normalization of PTH and calcium levels after surgery and improvement of renal, musculoskeletal and circulatory system function could be achieved in 95%. Most common complications are recurrent laryngeal nerve injury, hypo- or hyperparathyroidism, bleeding or stridor.
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PMID:[Primary hyperparathyroidism--case report and review of the literature]. 1682 51

Parathyroid cancer is a rare endocrine tumor and an uncommon cause of HPT. Advances have been made to identify a promising molecular diagnostic marker for the disease. The use of accurate preoperative imaging modalities would undoubtedly facilitate its management by making an accurate preoperative diagnosis by assessing its invasiveness, and by searching for nodal or distant metastases. The effectiveness of the application of intraoperative PTH assay in the management of this rare condition remains to be seen. Radical surgical treatment offers the best chance of cure, but for patients who have refractory unresectable disease or metastases, the availability of more effective targeted medical therapy may palliate the debilitating symptoms of hypercalcemia, reduce its metabolic complications, and potentially improve survival.
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PMID:Parathyroid cancer. 1688 98

Parathyroid carcinoma is a very rare cause of primary hyperparathyroidism and these tumors are usually hyper-functioning as compared to other malignant endocrine tumors. Surgery is the only effective primary treatment. We report a patient, who presented with pathological fracture of femur, hypercalcemia, bilateral renal stones, markedly raised Parathormone levels and palpable mass in the neck. Parathyroid adenoma was initially diagnosed and localized at left lower gland by Sestamibi scan and ultrasonography. She underwent surgery and enlarged parathyroid gland was removed. Intra operatively there was no evidence of local invasion or lymph nodes involvement but biopsy report suggested malignancy.
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PMID:Parathyroid carcinoma. 1697 24

Parathyroid carcinoma is the least common endocrine malignancy. Although it has been noted to be associated with certain clinical factors, such as familial hyper-parathyroidism, its etiology remains unknown. In rare instances, particularly in patients with chronic renal failure, it has been proposed that parathyroid carcinoma can arise from malignant transformation of benign lesions. We present a case of synchronous malignant and primary hyperplastic parathyroid disease in a patient with normal renal function. A 46-year-old woman was seen with symptomatic refractory hypercalcemia. Investigations suggested a hyperactive parathyroid gland. Operative findings were of a low-grade parathyroid carcinoma in concurrence with diffuse hyperplasia of the remaining glands. To our knowledge this represents the fifth reported case. The possibility of malignant change in hyperplastic parathyroid tissue has implications for patient management and follow-up, particularly if tissue is left in situ to maintain hormonal function.
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PMID:Synchronous sporadic carcinoma and primary hyperplasia of the parathyroid glands: A case report and review of the literature. 1704 Dec 3

Parathyroid carcinoma (PC) is an uncommon finding, accounting for only 1-2% of patients with primary hyperparathyroidism (HPT), but a relatively higher incidence has been reported in Italy and Japan. The etiology of the tumour remains unclear, but molecular analysis studies have hypothesised the involvement of mutations of several genes in the pathogenesis of PC, including the oncogene cyclin Dl or PRADI located at the chromosome 13, the retinoblastoma and the p53 tumour suppressor gene. The clinical presentation of patients with PC is mainly related to the increased secretion of PTH rather than to the tumour burden. The pre-operative diagnosis of malignancy is very difficult to obtain, and, thus, intra-operative recognition of PC is mandatory. However, reliable signs of malignancy are rarely detectable. Probably, only vascular invasion, that correlates with tumour recurrence and metastases, should be considered useful in confirming malignancy, although both Ki-67 and Cyclin D1 have been recently used to aid in the definitive diagnosis. The en bloc resection of the tumour, together with ipsilateral thyroid lobe and adjacent structures, only if involved, avoiding any capsular rupture of the mass, represents the gold standard of surgical treatment of patients. Although the PC has traditionally been considered as a radioresistant tumour, there are some retrospective data holding a possible benefit from post-operative irradiation. No cytotoxic regimen with proven efficacy is currently available for patients with PC, but since hypercalcemia is ultimately the most frequent cause of death, several studies have suggested the usefulness of bisphosphonates (i.e., clodronate, pamidronate and zoledronate), calcitonin, and calcimimetic agents (i.e., cinacalcet) in patients with PC and severe hypercalcemia. In conclusion, PC is a rare malignancy and the NCDB survey reports an overall five- and ten-year survival rate of 85% and 49%, respectively. However, it is very difficult to predict the clinical behaviour of patients with PC and probably the ultimate prognosis depends on successful resection of the tumour at the initial surgery.
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PMID:Parathyroid cancer: etiology, clinical presentation and treatment. 1721 44

Primary carcinoma of the parathyroid gland is a rare disease. It is often diagnosed after recurrence of hyperparathyroidism following resection for presumed adenomatous disease. Local and distant recurrence is high and aggressive resection is advocated. Patients with parathyroid cancer are frequently plagued by severe hypercalcemia, which is often refractory to medical therapy. Herein we describe the case of a patient with metastatic parathyroid cancer localized to the liver. The patient was treated with a palliative hepatic resection for the management of persistent and refractory hypercalcemia. Intraoperative parathyroid hormone levels were utilized as an adjunct to determine successful metastatectomy. Our case highlights the importance of an aggressive approach to patients with metastatic parathyroid cancer, as well as the utility of intraoperative parathyroid hormone levels to confirm successful extirpation of disease.
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PMID:Successful palliation of hypercalcemia secondary to metastatic parathyroid cancer: an unusual indication for hepatic resection. 1765 42

Parathyroid carcinoma is an uncommon cause of parathyroid hormone (PTH)-dependent hypercalcaemia, accounting for less than 1% of all cases of hyperparathyroidism. Parathyroid carcinoma is an indolent tumour with rather low malignant potential. Consideration of parathyroid carcinoma in the differential diagnosis of hypercalcaemic disorders is important because the morbidity and mortality are substantial and the best prognosis is associated with early recognition and surgical resection. Clinical indicators favouring parathyroid carcinoma over benign disease include markedly raised serum calcium levels, PTH and alkaline phosphatase. A palpable neck mass with both kidney and skeletal manifestations also give a high index of suspicion of parathyroid carcinoma. Histopathology alone is not sufficient to diagnose parathyroid cancer; it has to be correlated with the clinical findings. The initial and most effective treatment for parathyroid carcinoma is complete resection of the primary lesion, and repeated operations for recurrence are useful. The prognosis of parathyroid carcinomas is quite variable; 5-year survival rates vary from 40% to 86%, while the 10-year survival rate is approximately 49%. We report a case of parathyroid carcinoma occurring in a 55-year-old woman who presented with bone pain and hypercalcaemia.
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PMID:Large retrosternal parathyroid carcinoma with primary hyperparathyroidism. 1796 34

Parathyroid carcinoma is a rare malignancy of the parathyroid glands, and is the cause of primary hyperparathyroidism in fewer than one percent of cases. Symptoms are mainly due to local compression or hypercalcaemia secondary to markedly elevated parathyroid hormone levels. A minority of patients remain asymptomatic. Mediastinal parathyroid cysts are infrequent and may or may not be functioning. We present an 84-year-old woman with a giant functioning cystic parathyroid carcinoma located in the middle mediastinum. We performed a thorough MEDLINE and LILACS database search on published cases of parathyroid carcinoma and functioning parathyroid cysts, and found no case report with identical features to the one presented here.
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PMID:Parathyroid carcinoma presenting as a giant mediastinal retrotracheal functioning cyst. 1797 83

Parathyroid carcinoma is a rare endocrine tumour accounting for only about one of every hundred cases of primary hyperparathyroidism. The aetiology of this cancer remains obscure but the recent studies have identified that some gene mutations may be involved in its pathogenesis. Most patients with parathyroid carcinoma suffer from symptoms related to marked hypercalcemia; the incidence of associated renal, bone, gastrointestinal, neuromuscular and psychological symptoms is much more frequent than in those with benign parathyroid adenomas. The course of patients with parathyroid carcinoma is variable. However, in more than 50% cases, patients experience persistent or recurrent disease due to regional or distant disease. The treatment of parathyroid malignancy is predominantly surgical, comprising an initial en bloc resection of the tumour and adjacent neck structures. Several studies have suggested the usefulness of pharmacotherapy in the palliative treatment of the debilitating symptoms of hypercalcemia. The aim of this paper is to summarise the present state of knowledge on the aetiology, clinical presentation, diagnosis and treatment of parathyroid carcinoma.
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PMID:[Parathyroid carcinoma]. 1804 48

The extracellular calcium (Ca(o)2+)-sensing receptor (CaR) enables the parathyroid glands and other CaR-expressing cells to sense alterations in the level of Ca(o)2+ and to respond with changes in function that are directed at normalizing the blood calcium concentration. In addition to the parathyroid gland, the kidney is a key site for Ca(o)2(+)-sensing that enables it to make physiologically relevant alterations in divalent cation and water metabolism. Several disorders of Ca(o)2(+)-sensing arise from inherited or acquired abnormalities that "reset" the serum calcium concentration upward or downward. Inactivating mutations produce a benign form of hypercalcemia when present in the heterozygous state, termed Familial Hypocalciuric Hypercalcemia (FHH), while homozygous mutations produce a much more severe hypercalcemic disorder resulting from marked hyperparathyroidism, called Neonatal Severe Hyperparathyroidism (NSHPT). Activating mutations cause a hypocalcemic syndrome of varying severity, termed autosomal dominant hypocalcemia or hypoparathyroidism. Inactivating or activating antibodies directed at the CaR produce the expected hyper- or hypocalcemic syndromes, respectively. "Calcimimetic" CaR activators and "calcilytic" CaR antagonists have been developed. The calcimimetics are currently in use for controlling severe hyperparathyroidism in patients receiving dialysis treatment for end stage renal disease or with parathyroid cancer. Calcilytics are being evaluated as a means of inducing a "pulse" in the circulating parathyroid hormone (PTH) concentration, which would mimic that resulting from injection of PTH, an established anabolic form of treatment for osteoporosis.
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PMID:The calcium-sensing receptor: physiology, pathophysiology and CaR-based therapeutics. 1819 37


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