Diagnostic and New Therapeutic Approaches to Two Challenging Pediatric Metabolic Bone Disorders: Hypophosphatasia and X-linked Hypophosphatemic Rickets.

IF 1.3 Q3 PEDIATRICS
Fahad Aljuraibah, Ibrahim Alalwan, Abdelhadi Habeb
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引用次数: 0

Abstract

The diagnosis and management of metabolic bone disease among children can be challenging. This difficulty could be due to many factors, including limited awareness of these rare conditions, the complex pathophysiology of calcium and phosphate homeostasis, the overlapping phenotype with more common disorders (such as rickets), and the lack of specific treatments for these rare disorders. As a result, affected individuals could experience delayed diagnosis or misdiagnosis, leading to improper management. In this review, we describe the challenges facing diagnostic and therapeutic approaches to two metabolic bone disorders (MBD) among children: hypophosphatasia (HPP) and X-linked hypophosphatemia (XLH). We focus on explaining the pathophysiological processes that conceptually underpin novel therapeutic approaches, as well as these conditions' clinical or radiological similarity to nutritional rickets. Particularly in areas with limited sun exposure and among patients not supplementing vitamin D, nutritional rickets are still more common than HPP and XLH, and pediatricians and primary physicians frequently encounter this disorder in their practices. More recently, our understanding of these disorders has significantly improved, leading to the development of novel therapies. Asfotas alfa, a recombinant, human- tissue, nonspecific alkaline phosphatase, improved the survival of patients with HPP. Burosumab, a human monoclonal anti-FGF23 antibody, was recently approved as a specific therapy for XLH. We also highlight the current evidence on these two specific therapies' safety and effectiveness, though long-term data are still needed. Both HPP and XLH are multisystemic disorders that should be managed by multidisciplinary teams. Finally, recognizing these conditions in early stages will enable affected children and young adults to benefit from newly introduced, specific therapies.

两种具有挑战性的儿童代谢性骨病的诊断和新治疗方法:低磷血症和X连锁低磷血症性里克茨。
儿童代谢性骨病的诊断和治疗可能具有挑战性。这种困难可能是由于许多因素造成的,包括对这些罕见疾病的认识有限,钙和磷酸盐稳态的复杂病理生理学,与更常见的疾病(如软骨病)的表型重叠,以及缺乏对这些罕见病症的特异性治疗。因此,受影响的个体可能会经历延迟诊断或误诊,导致管理不当。在这篇综述中,我们描述了儿童中两种代谢性骨疾病(MBD)的诊断和治疗方法所面临的挑战:低磷血症(HPP)和X连锁低磷酸盐血症(XLH)。我们重点解释在概念上支持新治疗方法的病理生理过程,以及这些疾病与营养性软骨病的临床或放射学相似性。特别是在阳光照射有限的地区和不补充维生素D的患者中,营养性软骨病仍然比HPP和XLH更常见,儿科医生和初级医生在实践中经常遇到这种疾病。最近,我们对这些疾病的理解显著提高,从而开发出了新的治疗方法。Asfotas-alfa是一种重组人组织,非特异性碱性磷酸酶,可提高HPP患者的生存率。Burosumab是一种人类单克隆抗FGF23抗体,最近被批准为XLH的特异性治疗方法。我们还强调了目前关于这两种特定疗法的安全性和有效性的证据,尽管仍需要长期数据。HPP和XLH都是多系统疾病,应由多学科团队进行管理。最后,在早期阶段认识到这些情况将使受影响的儿童和年轻人能够从新引入的特定疗法中受益。
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来源期刊
CiteScore
4.30
自引率
0.00%
发文量
66
期刊介绍: Current Pediatric Reviews publishes frontier reviews on all the latest advances in pediatric medicine. The journal’s aim is to publish the highest quality review articles dedicated to clinical research in the field. The journal is essential reading for all researchers and clinicians in pediatric medicine.
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