[Etiology and pathogenesis of primary hyperparathyroidism.]
Primary hyperparathyroidism(pHPT)is a frequent endocrine disease in which abnormal calcium(Ca)regulation leads to hypercalcemia. The most frequent cause of pHPT in more than 80% of patients is an adenoma, followed by hyperplasia in about 15%, and cancer in 1~5%. Although most cases of pHPT are sporadic, a few are familial(hereditary), and this is known as familial hyperparathyroidism(FHPT). Gene abnormalities that affect cyclin D1 signaling(CCND1, CDC73, CDKN1B), Wnt/β-catenin signaling(MEN1), and calcium-sensing receptor signaling(CaSR, GNA11, AP2S1)play a role in the etiology and pathogenesis of pHPT. Vitamin D insufficiency/deficiency and CaSR dysfunction also play a role in pHPT severity. Continued elucidation of the etiology and pathogenesis of pHPT may lead to development of new treatments for pHPT as well as further understanding of Ca regulation.
Internal Medicine 1, Shimane University Faculty of Medicine, Japan.
Mika
M
Yamauchi
Internal Medicine 1, Shimane University Faculty of Medicine, Japan.
Toshitsugu
T
Sugimoto
D002118:Calcium / Q000378:metabolism; D006801:Humans; D049950:Hyperparathyroidism, Primary / Q000209:etiology* / Q000378:metabolism / Q000628:therapy; D010281:Parathyroid Hormone / Q000378:metabolism; D012008:Recurrence
D010281:Parathyroid Hormone; D002118:Calcium