Hereditary forms of primary hyperparathyroidism
https://doi.org/10.14341/osteo9877
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.
About the Authors
Elizaveta O. MamedovaEndocrinology Research Centre
Russian Federation
MD, PhD
Competing Interests:
Обзор является частью диссертационной работы Мамедовой Е.О. Остальные авторы декларируют отсутствие явных и потенциальных конфликтов интересов, связанных с публикацией настоящей статьи.
Natalya G. Mokrysheva
Endocrinology Research Centre
Russian Federation
MD, PhD
Liudmila Ya. Rozhinskaya
Endocrinology Research Centre
Russian Federation
MD, PhD, Professor
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Mamedova E.O., Mokrysheva N.G., Rozhinskaya L.Ya. Hereditary forms of primary hyperparathyroidism. Osteoporosis and Bone Diseases. 2018;21(2):23-29. (In Russ.) https://doi.org/10.14341/osteo9877
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