Evolution of Our Understanding of the Hyperparathyroid Syndromes: A Historical Perspective.

摘要: We review advancing and overlapping stages for our understanding of the expressions six hyperparathyroid (HPT) syndromes: multiple endocrine neoplasia type 1 (MEN1) or 4, 2A (MEN2A), hyperparathyroidism-jaw tumor syndrome, familial hypocalciuric hypercalcemia, neonatal severe primary hyperparathyroidism, isolated hyperparathyroidism. During stage (1903 to 1967), introduction robust measurement serum calcium was a milestone that uncovered hypercalcemia as first sign dysfunction in many HPT subjects, inheritability reported each syndrome. The earliest reports syndromes were biased toward striking manifestations. 2 (1959 1985), early formulations syndrome improved. Radioimmunoassays (parathyroid hormone [PTH], gastrin, insulin, prolactin, calcitonin) breakthroughs. They could identify carrier, indicate an emerging tumor, characterize monitor tumor. 3 (1981 2006), assembly cases enabled recognition further details. For example, non-secreting skin lesions discovered MEN1 MEN2A. 4 (1985 present), new genomic tools revolution gene identification. Four principal genes ("principal" implies mutated deleted 50% more probands its syndrome) (MEN1, RET, CASR, CDC73) identified five syndromes. 5 (1993 seven syndromal other than (CDKN1B, CDKN2B, CDKN2C, CDKN1A, GNA11, AP2S1, GCM2). Identification AP2S1 GCM2 became possible because whole-exome sequencing. 5, newly studies, including assignment carriers non-carriers mutation. Furthermore, molecular pathways RET calcium-sensing receptor elaborated, thereby facilitating developments pharmacotherapy. Current findings hold promise will be studied near future. © 2018 American Society Bone Mineral Research.