酶替代疗法治疗前低磷血症儿童的临床概况:来自全球 HPP 登记处的观察分析。

IF 2.6 3区 医学 Q3 ENDOCRINOLOGY & METABOLISM
Hormone Research in Paediatrics Pub Date : 2024-01-01 Epub Date: 2023-07-13 DOI:10.1159/000531865
Gabriel Ángel Martos-Moreno, Cheryl Rockman-Greenberg, Keiichi Ozono, Anna Petryk, Priya S Kishnani, Kathryn M Dahir, Lothar Seefried, Shona Fang, Wolfgang Högler, Agnès Linglart
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引用次数: 0

摘要

引言为了更好地了解低磷血症(HPP)儿童在接受酶替代疗法(ERT)治疗前的临床概况:方法:对全球HPP登记处(2015-2020年)登记的接受过ERT治疗的儿童(年龄小于18岁)的治疗前人口统计学和病史进行了总体分析,并按首次HPP表现的年龄(小于6个月与6个月至18岁)和地理区域(美国/加拿大、欧洲和日本)进行了分析:结果:分析了 151 名 HPP 患儿的数据。总体性别分布均衡(52.3%为女性;47.7%为男性),但日本的性别分布有所不同(63.0%为女性;37.0%为男性)。在开始使用 ERT 之前,常见的表现是骨骼(67.5%)和骨骼外,最主要的是肌肉(48.3%)、体质/代谢(47.0%)和神经(39.7%)。首次发病时年龄小于 6 个月(围产期/婴儿期)的儿童中,有骨畸形(59.3%)和呼吸衰竭(38.3%)病史的比例较高,而首次发病时年龄在 6 个月至 18 岁之间的儿童主要表现为乳牙早失(62.3%)和大运动迟缓(41.0%)。日本报告的总体中位年龄较小,骨骼表现(80.4%)和生长障碍的比例最高,而欧洲的数据显示肌肉表现的比例最高(70.7%)。在美国/加拿大,骨骼和肌肉表现的报告频率相同(57.4%):讨论/结论:在使用 ERT 之前,HPP 患儿的骨骼和骨骼外表现很常见,但首次出现 HPP 表现的年龄和地理区域有所不同。在开始ERT治疗前,应对HPP患儿进行全面评估。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Clinical Profiles of Children with Hypophosphatasia prior to Treatment with Enzyme Replacement Therapy: An Observational Analysis from the Global HPP Registry.

Introduction: The objective of this study was to better understand the clinical profiles of children with hypophosphatasia (HPP) prior to treatment with enzyme replacement therapy (ERT).

Methods: Pretreatment demographics and medical histories of ERT-treated children (aged <18 years) enrolled in the Global HPP Registry (2015-2020) were analyzed overall, by age at first HPP manifestation (<6 months vs. 6 months to 18 years), and by geographic region (USA/Canada, Europe, and Japan).

Results: Data from 151 children with HPP were analyzed. Sex distribution was balanced overall (52.3% female; 47.7% male) but differed in Japan (63.0% female; 37.0% male). Prior to ERT initiation, common manifestations were skeletal (67.5%) and extraskeletal, with the foremost types being muscular (48.3%), constitutional/metabolic (47.0%), and neurologic (39.7%). A high proportion of children who first presented at <6 months of age (perinatal/infantile period) had a history of bone deformity (59.3%) and respiratory failure (38.3%), while those aged 6 months to 18 years at first manifestation had a predominance of early loss of primary teeth (62.3%) and gross motor delay (41.0%). Those from Japan were reported to have a younger median age overall, the highest proportion of skeletal manifestations (80.4%) and growth impairment, while European data reported the highest proportion of muscular manifestations (70.7%). In the USA/Canada, skeletal and muscular manifestations were reported at the same frequency (57.4%).

Conclusion: Prior to ERT, skeletal and extraskeletal manifestations were commonly reported in children with HPP, with differences by age at first HPP manifestation and geographical region. Comprehensive assessments of children with HPP are warranted prior to ERT initiation.

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来源期刊
Hormone Research in Paediatrics
Hormone Research in Paediatrics ENDOCRINOLOGY & METABOLISM-PEDIATRICS
CiteScore
4.90
自引率
6.20%
发文量
88
审稿时长
4-8 weeks
期刊介绍: The mission of ''Hormone Research in Paediatrics'' is to improve the care of children with endocrine disorders by promoting basic and clinical knowledge. The journal facilitates the dissemination of information through original papers, mini reviews, clinical guidelines and papers on novel insights from clinical practice. Periodic editorials from outstanding paediatric endocrinologists address the main published novelties by critically reviewing the major strengths and weaknesses of the studies.
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