New diagnostic modalities and emerging treatments for neonatal bone disease
New diagnostic modalities and emerging treatments for neonatal bone disease
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DOI：
10.1016/j.earlhumdev.2018.08.014
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发表时间：
2018-11-01
影响因子：
2.5
通讯作者：
Bishop, Nicholas J.
中科院分区：
文献类型：
--
作者：
Borg, Stephanie A.;Bishop, Nicholas J.
新生儿期的骨病通常被认为是影响早产儿的一个问题，或者是一系列罕见和超罕见的疾病，大多数新生儿医生每年只会看到一到两次，或者可能每十年一次。针对其中一些罕见疾病的靶向治疗的出现意味着新生儿医生可能面临诊断困境，需要快速解决，以便获得以前不存在的管理选择。近年来，新生儿医生可用的诊断方式没有太大变化；血液测试和X光检查仍然是主要的，其他技术通常保留为研究研究，但快速获得基因组测试是迫切需要的。本文提供了最新的诊断和处理的骨骼问题可能会呈现给新生儿医生。
Bone disease in the neonatal period has often been regarded as an issue affecting premature infants, or a collection of rare and ultra-rare disorders that most neonatologists will see only once or twice each year, or possibly each decade. The emergence of targeted therapies for some of these rare disorders means that neonatologists may be faced with diagnostic dilemmas that need a rapid solution in order to access management options that did not previously exist.The diagnostic modalities available to the neonatologist have not changed a great deal in recent years; blood tests and radiographs still form the mainstays with other techniques usually reserved for research studies, but rapid access to genomic testing is emergent. This paper provides an update around diagnosis and management of bone problems likely to present to the neonatologist.