Hyperparathyroidism-jaw tumour syndrome
Dernière mise à jour 3 oct. 2024
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Hyperparathyroidism-jaw tumour syndrome is a condition characterised by overactivity of the parathyroid glands (hyperparathyroidism). The four parathyroid glands are located in the neck and secrete a hormone that regulates the body's use of calcium. Hyperparathyroidism disrupts the normal balance of calcium in the blood, which can lead to kidney stones, thinning of the bones (osteoporosis), nausea, vomiting, high blood pressure (hypertension), weakness, and fatigue. About 95 percent of people with hyperparathyroidism-jaw tumour syndrome will develop hyperparathyroidism during their lifetime.
Description
Hyperparathyroidism-jaw tumour syndrome is a condition characterised by overactivity of the parathyroid glands (hyperparathyroidism). The four parathyroid glands are located in the neck and secrete a hormone that regulates the body's use of calcium. Hyperparathyroidism disrupts the normal balance of calcium in the blood, which can lead to kidney stones, thinning of the bones (osteoporosis), nausea, vomiting, high blood pressure (hypertension), weakness, and fatigue. About 95 percent of people with hyperparathyroidism-jaw tumour syndrome will develop hyperparathyroidism during their lifetime.
In people with hyperparathyroidism-jaw tumour syndrome, hyperparathyroidism is caused by tumours that form in the parathyroid glands. Typically, only one of the four parathyroid glands is affected, but in some people, tumours are found in more than one gland. The tumours are usually a noncancerous (benign) type of tumour called an adenoma. Approximately 15 percent of people with hyperparathyroidism-jaw tumour syndrome develop a cancerous tumour called parathyroid carcinoma.
People with hyperparathyroidism-jaw tumour syndrome may also have a type of benign tumour called a fibroma in the jaw. Even though jaw tumours are specified in the name of this condition, it is estimated that only 11 to 40 percent of affected individuals have this symptom.
Other tumours, both benign and cancerous, are often seen in people with hyperparathyroidism-jaw tumour syndrome. For example, tumours of the uterus occur in up to 50 percent of people with this condition. Uterine tumours are typically benign, but they can cause heavy menstrual bleeding or other symptoms. The kidneys are affected in about 20 percent of people with hyperparathyroidism-jaw tumour syndrome. Benign kidney cysts are the most common kidney feature, but a rare cancerous tumour called Wilms tumour and other types of kidney tumour have also been found.
Regular medical screening may assist in the early detection of the features of hyperparathyroidism-jaw tumour syndrome.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Other names
CDC73-related disorders
Familial cystic parathyroid adenomatosis
Familial primary hyperparathyroidism with multiple ossifying jaw fibromas
Hereditary hyperparathyroidism-jaw tumour syndrome
HPT-JT
Hyperparathyroidism 2
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Lectures complémentaires et références
- Hyperparathyroidism-jaw tumour syndrome; MedlinePlus, National Library of Medicine.
- Bradley KJ, Cavaco BM, Bowl MR, Harding B, Cranston T, Fratter C, Besser GM, Conceicao Pereira M, Davie MW, Dudley N, Leite V, Sadler GP, Seller A, Thakker RV. Parafibromin mutations in hereditary hyperparathyroidism syndromes and parathyroid tumours. Clin Endocrinol (Oxf). 2006 Mar;64(3):299-306. doi: 10.1111/j.1365-2265.2006.02460.x.
- Figueiredo AA, Saramago A, Cavaco BM, Simoes-Pereira J, Leite V. Familial parathyroid tumours-comparison of clinical profiles between syndromes. J Endocrinol Invest. 2023 Sep;46(9):1799-1806. doi: 10.1007/s40618-023-02032-4. Epub 2023 Feb 13.
- Iacobone M, Masi G, Barzon L, Porzionato A, Macchi V, Ciarleglio FA, Palu G, De Caro R, Viel G, Favia G. Hyperparathyroidism-jaw tumor syndrome: a report of three large kindred. Langenbecks Arch Surg. 2009 Sep;394(5):817-25. doi: 10.1007/s00423-009-0511-y. Epub 2009 Jun 16.
- Masi G, Barzon L, Iacobone M, Viel G, Porzionato A, Macchi V, De Caro R, Favia G, Palu G. Clinical, genetic, and histopathologic investigation of CDC73-related familial hyperparathyroidism. Endocr Relat Cancer. 2008 Dec;15(4):1115-26. doi: 10.1677/ERC-08-0066. Epub 2008 Aug 28.
- Newey PJ, Bowl MR, Cranston T, Thakker RV. Cell division cycle protein 73 homolog (CDC73) mutations in the hyperparathyroidism-jaw tumor syndrome (HPT-JT) and parathyroid tumors. Hum Mutat. 2010 Mar;31(3):295-307. doi: 10.1002/humu.21188.
- Tora R, Welch J, Sun J, Agarwal SK, Bell DA, Merino M, Weinstein LS, Simonds WF, Jha S. Phenotypic Profiling and Molecular Mechanisms in Hyperparathyroidism-jaw Tumor Syndrome. J Clin Endocrinol Metab. 2023 Nov 17;108(12):3165-3177. doi: 10.1210/clinem/dgad368.
- Torresan F, Iacobone M. Clinical Features, Treatment, and Surveillance of Hyperparathyroidism-Jaw Tumor Syndrome: An Up-to-Date and Review of the Literature. Int J Endocrinol. 2019 Dec 18;2019:1761030. doi: 10.1155/2019/1761030. eCollection 2019.
- van der Tuin K, Tops CMJ, Adank MA, Cobben JM, Hamdy NAT, Jongmans MC, Menko FH, van Nesselrooij BPM, Netea-Maier RT, Oosterwijk JC, Valk GD, Wolffenbuttel BHR, Hes FJ, Morreau H. CDC73-Related Disorders: Clinical Manifestations and Case Detection in Primary Hyperparathyroidism. J Clin Endocrinol Metab. 2017 Dec 1;102(12):4534-4540. doi: 10.1210/jc.2017-01249.
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