New treatments for children with achondroplasia

IF 19.9 1区医学 Q1 PEDIATRICS

Lancet Child & Adolescent Health Pub Date : 2024-03-12 DOI:10.1016/S2352-4642(23)00310-3

Prof Ravi Savarirayan MD , Prof Julie Hoover-Fong MD , Patrick Yap MD , Svein O Fredwall MD

引用次数: 0

Abstract

Achondroplasia is the most common form of dwarfism in humans, caused by a common pathogenic variant in the gene encoding fibroblast growth factor receptor 3, FGFR3, which impairs the process of endochondral ossification of the growing skeleton. In this Review, we outline the clinical and genetic hallmarks of achondroplasia and related FGFR3 conditions, the natural history and impact of achondroplasia over a patient's lifespan, and diagnosis and management options. We then focus on the new and emerging drug therapies that target the underlying pathogenesis of this condition. These new options are changing the natural growth patterns of achondroplasia, with the prospect of better long-term health outcomes for patients.

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软骨发育不全儿童的新疗法

软骨发育不全症是人类最常见的侏儒症，是由编码成纤维细胞生长因子受体 3（FGFR3）的基因中的一种常见致病变体引起的，这种变体会影响骨骼生长的软骨内骨化过程。在本综述中，我们将概述软骨发育不全和相关 FGFR3 疾病的临床和遗传特征、软骨发育不全的自然史和对患者一生的影响，以及诊断和治疗方案。然后，我们将重点介绍针对该病症潜在发病机制的新兴药物疗法。这些新方案正在改变软骨发育不全症的自然生长模式，有望为患者带来更好的长期健康结果。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Lancet Child & Adolescent Health Psychology-Developmental and Educational Psychology

CiteScore

40.90

自引率

0.80%

发文量

381

期刊介绍： The Lancet Child & Adolescent Health, an independent journal with a global perspective and strong clinical focus, presents influential original research, authoritative reviews, and insightful opinion pieces to promote the health of children from fetal development through young adulthood. This journal invite submissions that will directly impact clinical practice or child health across the disciplines of general paediatrics, adolescent medicine, or child development, and across all paediatric subspecialties including (but not limited to) allergy and immunology, cardiology, critical care, endocrinology, fetal and neonatal medicine, gastroenterology, haematology, hepatology and nutrition, infectious diseases, neurology, oncology, psychiatry, respiratory medicine, and surgery. Content includes articles, reviews, viewpoints, clinical pictures, comments, and correspondence, along with series and commissions aimed at driving positive change in clinical practice and health policy in child and adolescent health.

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