Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0221002 (primary hyperparathyroidism)
 4,921 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 57-year-old man had renal stones, and biochemical investigation led to a diagnosis of primary hyperparathyroidism. Surgical exploration revealed bilateral inferior parathyroid enlargement. Both glands were removed; macroscopically, small cysts were seen on cut sections. Histologic examination showed broad bands of fibrosis, lymphoid follicles, and plasma cells that diffusely effaced the parathyroid architecture. Such features--if seen in the thyroid gland--would be reminiscent of an autoimmune process. The cysts were lined by respiratory and squamous epithelia and contained lymphoid follicles in their walls. Less affected areas of the parathyroid tissue were hyperplastic. It is believed that the inflammatory response in the parathyroid glands that is described in this article may be characteristic. It may result from the cysts or their contents or from an autoimmune reaction.
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PMID:Parathyroiditis associated with hyperparathyroidism and branchial cysts. 171 27

Recurrent parathyroid adenoma occurred in a patient who had received radiation treatments to the lateral aspect of the pharynx for lymphoid hyperplasia at the age of 10 years. The interval between the development of the first and second adenomas was 20 years. Although an association between head and neck irradiation and primary hyperparathyroidism is known, we believe this to be the first report of recurrent hyperparathyroidism in an irradiated patient.
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PMID:Radiation-associated recurrent parathyroid adenoma. 397 Jun 30

Two cases of primary hyperparathyroidism with underlying parathyroid adenomas were found to be associated with lymphocytic infiltration and destruction of the neoplastic tissue. There was no inflammatory infiltrate in the adjacent rim of the remnant of parathyroid gland or in the other tumour-free glands. The lymphoid cell population within the tumours was composed of both infiltrating T-cells and compact nodule-forming B-cells. In one of the tumours there was considerable fibrosis and atrophy of the adenomatous tissue. The histological picture was consistent with an autoimmune process directed against the adenomas, indicating that this reaction had, in part, been successful in reducing the abnormal cell population.
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PMID:Lymphocytic infiltration and destruction of parathyroid adenomas: a possible tumour-specific autoimmune reaction in two cases of primary hyperparathyroidism. 783 43

Pronounced lymphocytic infiltration in parathyroid adenoma is rare, with only six previously reported cases in the literature. The aims of this study are to review the features and investigate the pathogenesis of this rare entity. Two solitary parathyroid adenomas having this feature were reported, and the clinicopathologic features of all the documented cases were reviewed. The nature of the lymphoid infiltrate and the presence of Epstein-Barr virus (EBV) were analyzed to unveil the pathogenesis of this infiltrate. One adenoma was found in a 70-yr-old woman with primary hyperparathyroidism and valvular heart disease. The other was an autopsy finding in a 48-yr-old man who had presented with hypercalcemic crisis. The lymphoid cell population within the tumors was composed of B cells and different subsets of T cells. EBV was not detected in the infiltrates. The lymphocytic infiltrate in parathyroid adenoma is an unusual histologic entity. Its presence is unlikely to imply an autoimmune disorder. We hypothesize that the lesion may be a result of local tissue response to parathyroid adenoma.
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PMID:Parathyroid adenomas with pronounced lymphocytic infiltration: no evidence of autoimmune pathogenesis. 1530 42

A 67-year-old woman who presented with hypocalcemia compatible with idiopathic hypoparathyroidism gradually changed into a state of primary hyperparathyroidism. The left upper parathyroid gland, which was larger and harder than other glands, was resected. Despite the operation, hypercalcemia and high levels of intact PTH persisted. Six weeks later total parathyroidectomy was done to induce remission. The resected gland in the first operation had clusters of lymphoid follicles with germinal centers indicating a chronic autoimmune inflammation. This case suggests a transition from hypoparathyroidim to hyperparathyroidism associated with chronic parathyroiditis, possibly by a mechanism analogous to that observed in chronic thyroiditis.
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PMID:Primary hyperparathyroidism presumably caused by chronic parathyroiditis manifesting from hypocalcemia to severe hypercalcemia. 1570 65

Primary hyperparathyroidism is primarily due to a solitary parathyroid adenoma but multi-gland disease, parathyroid carcinoma, and ectopic parathyroid hormone production can occur. Although primary hyperparathyroidism mostly presents sporadically, strong familial predispositions also exist. Much is known about heritable genetic mutations responsible for these syndromes, including multiple endocrine neoplasia types 1 and 2A, hyperparathyroidism-jaw tumor syndrome, and familial hypocalciuric hypercalcemia. Acquired mutations in common sporadic hyperparathyroidism have also been discovered. Here we focus on the most common and well-established genetic drivers: 1) involvement of the oncogene cyclin D1 in human neoplasia was first established in parathyroid adenomas, followed by recognition of its importance in other tumor types including breast cancer and B-lymphoid malignancy; and 2) somatic mutation of the MEN1 gene, first identified as the source of pathogenic germline mutations in patients with familial endocrinopathies, is found in a substantial fraction of non-familial parathyroid adenomas.
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PMID:MAJOR MOLECULAR GENETIC DRIVERS IN SPORADIC PRIMARY HYPERPARATHYROIDISM. 2806 56