Taylor-Miller Tashunka, Allgrove Jeremy
Department of Endocrinology and Metabolic Medicine, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.
Front Pediatr. 2021 Feb 5;9:600490. doi: 10.3389/fped.2021.600490. eCollection 2021.
The physiology and regulation of bone minerals in the fetus and the newborn is significantly different from children and adults. The bone minerals calcium, phosphate and magnesium are all maintained at higher concentrations to achieve adequate bone accretion. This is an integral component of normal fetal development which facilitates safe neonatal transition to post-natal life. When deciphering the cause of bone mineral disorders in newborns, the potential differential diagnosis list is broad and complex, including several extremely rare conditions. Also, significant discoveries including new embryological molecular genetic transcription factors, the role of active placental mineral transport, and hormone regulation factors have changed the understanding of calcium and phosphate homeostasis in the fetus and the newborn. This article will guide clinicians through an updated review of calcium and phosphate physiology, then review specific conditions pertinent to successful neonatal care. Furthermore, with the advancement of increasingly rapid molecular genetic testing, genomics will continue to play a greater role in this area of fetal diagnostics and prognostication.
胎儿和新生儿骨骼矿物质的生理及调节与儿童和成人显著不同。骨骼矿物质钙、磷和镁均维持在较高浓度，以实现足够的骨质积累。这是正常胎儿发育的一个重要组成部分，有助于新生儿安全过渡到出生后生活。在解读新生儿骨骼矿物质紊乱的病因时，潜在的鉴别诊断清单广泛而复杂，包括几种极为罕见的病症。此外，包括新的胚胎分子遗传转录因子、胎盘矿物质主动转运的作用以及激素调节因子等重大发现，改变了人们对胎儿和新生儿钙和磷稳态的认识。本文将引导临床医生对钙和磷的生理学进行更新回顾，然后回顾与新生儿成功护理相关的具体病症。此外，随着分子基因检测越来越迅速地发展，基因组学将在胎儿诊断和预后这一领域继续发挥更大作用。
