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半个世纪以来,儿童和青少年骨骼和矿物质代谢紊乱的评估和管理方面取得了进步。

One half-century of advances in the evaluation and management of disorders of bone and mineral metabolism in children and adolescents.

机构信息

Johns Hopkins All Children ' s Hospital , St. Petersburg , FL, USA.

The Center for Bone Health at the Children's Hospital of Philadelphia, Philadelphia, PA, USA.

出版信息

J Pediatr Endocrinol Metab. 2023 Jan 13;36(2):105-118. doi: 10.1515/jpem-2022-0624. Print 2023 Feb 23.

Abstract

The past 50 years of research in pediatric bone and mineral metabolism have led to remarkable progress in the identification and characterization of disorders that affect the developing skeleton. Progress has been facilitated through advances in both technology and biology and this paper provides a brief description of some but not all of the key findings, including identification of the calcium sensing receptor and the polypeptides parathyroid hormone and parathyroid hormone-related protein as well as their shared receptor and signal generating pathways; the elucidation of vitamin D metabolism and actions; discovery of fibroblast growth factor 23 (FGF23), the sodium-phosphate co-transporters and the other components that regulate phosphate metabolism. Moreover, the past half-century of research has led to the delineation of the molecular bases for genetic forms of hypoparathyroidism, pseudohypoparathyroidism, and primary hyperparathyroidism as well as the determination of the genetic causes of osteogenesis imperfecta, osteopetrosis, hypophosphatasia, and other disorders of mineral/bone homeostasis. During the next decade we expect that many of these fundamental discoveries will lead to the development of innovative treatments that will improve the lives of children with these disorders.

摘要

过去 50 年来,儿科骨与矿物质代谢的研究取得了显著进展,使人们能够识别和描述影响发育中骨骼的各种疾病。这一进展得益于技术和生物学的进步,本文简要介绍了其中的一些但不是全部关键发现,包括钙敏感受体以及甲状旁腺激素和甲状旁腺激素相关蛋白等多肽的鉴定,以及它们共同的受体和信号生成途径;维生素 D 代谢和作用的阐明;成纤维细胞生长因子 23(FGF23)、钠-磷共转运体以及其他调节磷代谢的成分的发现。此外,过去半个世纪的研究还揭示了甲状旁腺功能减退症、假性甲状旁腺功能减退症和原发性甲状旁腺功能亢进症等遗传性疾病的分子基础,并确定了成骨不全症、骨质石化症、低磷酸酶血症和其他矿物质/骨骼稳态紊乱的遗传原因。在未来十年,我们预计其中的许多基础发现将推动创新治疗方法的发展,从而改善这些疾病患儿的生活。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d291/10406614/8ef3ea134191/nihms-1918783-f0001.jpg

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