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X连锁低磷性佝偻病:阿拉伯国家儿科内分泌学家的认识、知识与实践

X-linked Hypophosphatemic Rickets: Awareness, Knowledge, and Practice of Pediatric Endocrinologists in Arab Countries.

作者信息

Deeb Asma, Juraibah Fahad Al, Dubayee Muhammad Al, Habeb Abdelhadi

机构信息

Department of Pediatric Endocrinology, Sheikh Shakhbout Medical City, Abu Dhabi, United Arab Emirates.

Department of Pediatrics, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.

出版信息

J Pediatr Genet. 2020 Dec 15;11(2):126-131. doi: 10.1055/s-0040-1721400. eCollection 2022 Jun.

Abstract

X-linked hypophosphatemic rickets (XLHR) is a genetic disease caused by inactivating pathogenic variants in , which results in reduced mineralization of bone, teeth, and renal phosphate wasting. XLHR is traditionally treated by phosphate and vitamin D analogs. Recently, burosumab, a recombinant anti-fibroblast growth factor-23 (FGF-23) monoclonal antibody was approved as specific XLHR therapy. We aimed to assess the awareness, knowledge, and management of XLHR among members of the Arab Society for Pediatric Endocrinology and Diabetes (ASPED). Of the 97 physicians who answered the online questionnaire, 97% were aware of XLHR, and while 90% screen family members of the index case, only 29% manage children with XLHR. In children with rickets, 40% of participants measure serum/urine phosphate routinely, and 31% request serum FGF-23 in suspected XLHR cases. Almost all responders use conventional XLHR therapy, and 4% used Burosomab. Only 14% were satisfied with the conventional treatment, and 69% reported therapeutic complications in up to 25% of their patients. Multidisciplinary care for XLHR is practiced by 94%, but 82% of providers did not have transition clinics. Pediatric endocrinologists in ASPED countries are aware of XLHR but have variable practice and are unsatisfied with its conventional treatment. Raising awareness of the recognition and modern management of XLHR is needed.

摘要

X连锁低磷性佝偻病(XLHR)是一种由[基因名称]的致病性失活变异引起的遗传性疾病,其导致骨骼、牙齿矿化减少以及肾脏磷酸盐流失。传统上,XLHR通过磷酸盐和维生素D类似物进行治疗。最近,布罗索单抗,一种重组抗成纤维细胞生长因子23(FGF-23)单克隆抗体,被批准作为XLHR的特异性治疗方法。我们旨在评估阿拉伯儿科内分泌学和糖尿病学会(ASPED)成员对XLHR的认识、知识和管理情况。在回答在线问卷的97名医生中,97%知晓XLHR,虽然90%会对索引病例的家庭成员进行筛查,但只有29%负责管理患有XLHR的儿童。在患有佝偻病的儿童中,40%的参与者常规测量血清/尿磷酸盐,31%在疑似XLHR病例中检测血清FGF-23。几乎所有应答者都使用传统的XLHR治疗方法,4%使用布罗索单抗。只有14%对传统治疗满意,69%报告在其高达25%的患者中出现治疗并发症。94%的人对XLHR采用多学科护理,但82%的医疗服务提供者没有过渡诊所。ASPED国家的儿科内分泌学家知晓XLHR,但实践情况各异,且对其传统治疗不满意。需要提高对XLHR识别和现代管理的认识。

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