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Hereditary forms of primary hyperparathyroidism
- Source :
- Остеопороз и остеопатии, Vol 21, Iss 2, Pp 23-29 (2018)
- Publication Year :
- 2018
- Publisher :
- Endocrinology Research Centre, 2018.
-
Abstract
- Primary hyperparathyroidism (PHPT) is sporadic in the majority of cases. Hereditary forms of PHPT are rarer, however, they are of particular interest because they allow a deeper understanding of pathogenesis of parathyroid neoplasia. Hereditary forms of PHPT include multiple endocrine neoplasia type 1 (MEN-1), type 2A (MEN-2A), type 4 (MEN-4), hyperparathyroidism-jaw tumour syndrome (HPT-JT), variants of familial hypocalciuric hypercalcemia (FHH) and familial isolated hyperparathyroidism (FIHP). Mutations in the following genes cause the development of MEN-1, MEN-2A, MEN4, HPT-JT: MEN1, RET, CDKN1B, CDC73, respectively. Variants of FHH are caused by mutations in CASR, AP2S1, GNA11. Gene(s) responsible for the development of the majority of FIHP cases remain unknown. Identification of hereditary forms of PHPT is important for patients and their first-degree relatives, as it allows defining the necessity of screening to reveal other components of the syndrome, in some cases determines the surgical approach to PHPT, and the risk of development of the disease in offsprings. This article provides information on hereditary syndromes associated with PHPT and special features of PHPT in each syndrome.
- Subjects :
- Osteopathy
GNA11
Familial hypocalciuric hypercalcemia
endocrine system diseases
business.industry
Familial hyperparathyroidism
RZ301-397.5
Disease
familial hypocalciuric hypercalcemia
Bioinformatics
medicine.disease
Hyperparathyroidism-Jaw Tumor Syndrome
multiple endocrine neoplasia type 1
medicine
MEN1
primary hyperparathyroidism
business
Multiple endocrine neoplasia
Primary hyperparathyroidism
hyperparathyroidism-jaw tumor syndrome
familial isolated hyperparathyroidism
Subjects
Details
- Language :
- English
- ISSN :
- 23110716 and 20722680
- Volume :
- 21
- Issue :
- 2
- Database :
- OpenAIRE
- Journal :
- Остеопороз и остеопатии
- Accession number :
- edsair.doi.dedup.....77a18b0ab66248df71f97c6e3aba8d19