X-Linked Hypophosphatemia at the European Society of Pediatric Endocrinology Meeting 2022

H. Alsaffar, Hajar Dauleh, Khadija Ali
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Abstract

Abstract Rickets, a growth plate disorder, is classified into calcipenic and phosphopenic types based on the etiology. Phosphopenic rickets can be further classified into fibroblast growth factor 23 (FGF23) mediated and non-FGF23 mediated. FGF-23 has a phosphaturic effect which results in hypophosphatemia and, therefore, the accumulation of hypertrophied chondrocytes, leading to rachitic changes in the bones. One of the most common causes of inherited hypophosphatemic rickets is X-linked hypophosphatemia (XLH), mainly due to a mutation in the PHEX gene that ends in the extended release of FGF-23. During the 60th annual meeting of the European Society for Pediatric Endocrinology, held in Rome between September 15 and 19, 2022, approximately 15 presentations were made either as free communication or poster. In addition, there was a dedicated satellite symposium focusing on XLH. This article has been prepared mainly to share knowledge and updates discussed during the meeting about hypophosphatemic rickets, as we feel this disease is still to be focused on in the MENA region, since there are some gaps in the recognition and management of FGF23 hypophosphatemic rickets and osteomalacia.
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2022年欧洲儿科内分泌学会会议上的x连锁低磷血症
佝偻病是一种生长板疾病,根据病因可分为缺钙型和缺磷型。磷酸源性佝偻病可进一步分为成纤维细胞生长因子23介导和非FGF23介导。FGF-23具有磷酸化作用,导致低磷血症,因此,肥大软骨细胞的积累,导致骨骼的佝偻病变化。遗传性低磷血症佝偻病最常见的原因之一是x连锁低磷血症(XLH),主要是由于PHEX基因突变导致FGF-23释放延长。在2022年9月15日至19日在罗马举行的第60届欧洲儿科内分泌学会年会上,大约有15次演讲以自由交流或海报的形式进行。此外,还专门举行了一次以XLH为重点的卫星专题讨论会。本文主要是为了分享会议期间讨论的关于低磷血症佝偻病的知识和最新进展,因为我们认为该疾病在中东和北非地区仍然需要关注,因为在FGF23低磷血症佝偻病和骨软化症的认识和管理方面存在一些差距。
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