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低磷血症性疾病的诊断与管理

Diagnosis and Management of Hypophosphatemic Disorders.

作者信息

Liu Eva S

机构信息

Brigham and Women's Hospital, Division of Endocrinology, Diabetes, and Hypertension, Harvard Medical School, Boston, Massachusetts.

出版信息

Endocr Pract. 2025 Jul 25. doi: 10.1016/j.eprac.2025.07.015.

Abstract

In addition to being an essential component of the mineralized skeleton, phosphate plays a role in different physiologic and cellular functions. Several different mineral-regulating hormones, including 1,25-dihydroxyvitamin D, parathyroid hormone, and fibroblast growth factor 23, modulate serum phosphate levels predominantly at the level of the bone, kidney, and intestine. Impaired serum phosphate levels can lead to nonspecific symptoms, and serum phosphate levels are not routinely measured in laboratory analyses; therefore, disorders of hypophosphatemia are often overlooked during patient evaluations. In the past few decades, significant progress has been made in identifying the genetic causes of and novel therapies for hypophosphatemic disorders. In this review, the regulation of phosphate homeostasis, clinical presentation, workup, disorders, and treatment of hypophosphatemia will be discussed.

摘要

除了作为矿化骨骼的重要组成部分外,磷酸盐还在不同的生理和细胞功能中发挥作用。几种不同的矿物质调节激素,包括1,25 - 二羟基维生素D、甲状旁腺激素和成纤维细胞生长因子23,主要在骨骼、肾脏和肠道水平调节血清磷酸盐水平。血清磷酸盐水平受损可导致非特异性症状,且实验室分析中通常不常规检测血清磷酸盐水平;因此,在患者评估过程中,低磷血症紊乱常常被忽视。在过去几十年中,在确定低磷血症紊乱的遗传原因和新疗法方面取得了重大进展。在本综述中,将讨论磷酸盐稳态的调节、临床表现、检查、紊乱情况及低磷血症的治疗。

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Recent advances in fibroblast growth factor 23-related hypophosphatemic disorders.成纤维细胞生长因子 23 相关低磷血症性疾病的最新进展。
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