Epidemiology, Pathophysiology, and Genetics of Primary Hyperparathyroidism

作者：Salvatore Minisola, Andrew Arnold, Zhanna Belaya, Maria Luisa Brandi, B.L. Clarke, Fadil Hannan, Lorenz C. Hofbauer, Karl Insogna, André Lacroix, Uri Liberman, Andrea Palermo, Jessica Pepe, René Rizzoli, Robert A. Wermers, Rajesh V. Thakker · 发表于：Journal of Bone and Mineral Research · 年份：2020 · DOI：10.1002/jbmr.4665 · 被引用次数：201 · 研究领域：Parathyroid Disorders and Treatments、Neuroendocrine Tumor Research Advances、Metabolism, Diabetes, and Cancer

ABSTRACT In this narrative review, we present data gathered over four decades (1980–2020) on the epidemiology, pathophysiology and genetics of primary hyperparathyroidism (PHPT). PHPT is typically a disease of postmenopausal women, but its prevalence and incidence vary globally and depend on a number of factors, the most important being the availability to measure serum calcium and parathyroid hormone levels for screening. In the Western world, the change in presentation to asymptomatic PHPT is likely to occur, over time also, in Eastern regions. The selection of the population to be screened will, of course, affect the epidemiological data (ie, general practice as opposed to tertiary center). Parathyroid hormone has a pivotal role in regulating calcium homeostasis; small changes in extracellular Ca++ concentrations are detected by parathyroid cells, which express calcium-sensing receptors (CaSRs). Clonally dysregulated overgrowth of one or more parathyroid glands together with reduced expression of CaSRs is the most important pathophysiologic basis of PHPT. The spectrum of skeletal disease reflects different degrees of dysregulated bone remodeling. Intestinal calcium hyperabsorption together with increased bone resorption lead to increased filtered load of calcium that, in addition to other metabolic factors, predispose to the appearance of calcium-containing kidney stones. A genetic basis of PHPT can be identified in about 10% of all cases. These may occur as a part of mult...