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Hyperparathyroidism

Abnormally elevated plasma levels of parathyroid hormone (PTH) define hyperparathyroidism. The cause is hyperfunction of one or more parathyroid glands or ectopic parathyroid hormone production.

Differentials

Hyperparathyroidism can be classified into primary, secondary, and tertiary forms. Only in primary hyperparathyroidism a mutated gene may be the cause. Secondary hyperparathyroidism results from prolonged hypocalcaemia or vitamin D deficiency as it occurs most often in chronic renal failure. In secondary hyperparathyroidism, there may exist a genetic disposition, however. The same perhaps holds true in tertiary hyperparathyroidism, in which after prolonged secondary hyperparathyroidism, an autonomous gland function develops.

Systematic

Disorders of the parathyroid hormone system
Humoral hypercalcemia of malignancy
Hyperparathyroidism
AP2S1
CASR
CDC73
Familial Isolated Hyperparathyroidism
GCM2
GNA11
Hypoparathyroidism
Parathyroid adenoma
Parathyroid carcinoma
Pseudohyperparathyreoidism
Pseudohypoparathyroidism

References:

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2.

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21.

Teh BT et al. (1996) Autosomal dominant primary hyperparathyroidism and jaw tumor syndrome associated with renal hamartomas and cystic kidney disease: linkage to 1q21-q32 and loss of the wild type allele in renal hamartomas.

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22.

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23.

Tanaka C et al. (1998) Absence of germ-line mutations of the multiple endocrine neoplasia type 1 (MEN1) gene in familial pituitary adenoma in contrast to MEN1 in Japanese.

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24.

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None (1976) Familial hyperparathyroidism.

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Marx SJ et al. (1985) Familial hypocalciuric hypercalcemia. Mild expression of the gene in heterozygotes and severe expression in homozygotes.

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Marx SJ et al. (1982) An association between neonatal severe primary hyperparathyroidism and familial hypocalciuric hypercalcemia in three kindreds.

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35.

None (1980) Familial hypocalciuric hypercalcemia.

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36.

Pollak MR et al. (1993) Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.

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37.

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38.

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39.

Farnebo F et al. (1999) Alternative genetic pathways in parathyroid tumorigenesis.

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40.

Haven CJ et al. (2000) A genotypic and histopathological study of a large Dutch kindred with hyperparathyroidism-jaw tumor syndrome.

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41.

Leborgne J et al. (1975) [Familial cancer of the parathyroid glands. Importance of angiography in the diagnosis of regional recurrences. Considerations on 2 cases].

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42.

Hobbs MR et al. (2002) Revised 14.7-cM locus for the hyperparathyroidism-jaw tumor syndrome gene, HRPT2.

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43.

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44.

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45.

Chow CC et al. (2003) Oral alendronate increases bone mineral density in postmenopausal women with primary hyperparathyroidism.

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46.

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47.

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48.

CUTLER RE et al. (1964) FAMILIAL HYPERPARATHYROIDISM. A KINDRED INVOLVING ELEVEN CASES, WITH A DISCUSSION OF PRIMARY CHIEF-CELL HYPERPLASIA.

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49.

Warner J et al. (2004) Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications.

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50.

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51.

Warner JV et al. (2006) Familial isolated hyperparathyroidism is linked to a 1.7 Mb region on chromosome 2p13.3-14.

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52.

None (1948) Primary diffuse parathyroid hyperplasia in an infant of 4 months.

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53.

Jackson CE et al. (1990) Hereditary hyperparathyroidism and multiple ossifying jaw fibromas: a clinically and genetically distinct syndrome.

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54.

Arnold A et al. (1988) Monoclonality and abnormal parathyroid hormone genes in parathyroid adenomas.

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55.

Mallette LE et al. (1987) Familial cystic parathyroid adenomatosis.

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56.

Dinnen JS et al. (1977) Parathyroid carcinoma in familial hyperparathyroidism.

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57.

OMIM.ORG article

Omim 239200 external link
58.

Wikipedia article

Wikipedia EN (Hyperparathyroidism) external link
Update: Aug. 14, 2020
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