Osteogenesis imperfecta in Peruvian children: Phenotypic and therapeutic insights from a pediatric hospital.

IF 1.1 Q2 MEDICINE, GENERAL & INTERNAL Intractable & rare diseases research Pub Date : 2024-11-30 DOI:10.5582/irdr.2024.01033
Andres Alberto Alayza Barba, Paloma Valeria Matos Meza, Hugo Hernán Abarca-Barriga
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Abstract

Osteogenesis imperfecta (OI) is a genetic disorder of the connective tissue that is characterized by high bone fragility. It has a worldwide incidence of 1 in 10,000. The diagnosis is mainly clinical-radiological. Treatment is based on the use of bisphosphonates and orthopedic surgeries. The objective of this study was to establish the clinical, radiological, and therapeutic characteristics of OI in pediatric patients of a national reference pediatrics institute. This was conducted through a descriptive and retrospective analysis. All patients under 18 years of age with a diagnosis of OI treated at the Instituto Nacional de Salud del Niño de Breña (INSN-Breña) between 2010 and 2021 were included. In total, 91 patients with OI were studied, more than half of whom were male. A total of 93.4% had a history of fractures, 72.5% had blue sclera, 39.6% had bowed legs and 20.9% had dentinogenesis imperfecta. The minimum-maximum value of fractures was 0-18. A total of 75.8% of patients started treatment with bisphosphonates and 41.8% used adjuvant medications. Less than 50% of patients required surgical treatment. Osteogenesis imperfecta is a genetic and chronic pathology. The use of the Van Dijk severity grade and the Aglan severity scale is simple to apply and therefore should be used to improve the classification of groups with the highest risk of fractures and response to treatment. Due to the low incidence of this disease, it is important to raise awareness and increase the research volume on this subject.

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秘鲁儿童成骨不全:来自儿科医院的表型和治疗见解。
成骨不全症(OI)是一种结缔组织的遗传性疾病,其特征是高度骨易碎性。它在世界范围内的发病率为万分之一。诊断主要是临床放射学。治疗是基于使用双膦酸盐和骨科手术。本研究的目的是建立一个国家参考儿科研究所的儿科患者的临床、放射学和治疗特征。这是通过描述性和回顾性分析进行的。所有在2010年至2021年间在国立医院Niño de Breña (INSN-Breña)治疗的18岁以下诊断为成骨不全的患者均被纳入研究。总共研究了91例成骨不全患者,其中一半以上为男性。93.4%的人有骨折史,72.5%的人有巩膜蓝色,39.6%的人有弓腿,20.9%的人有牙本质发育不全。骨折的最小-最大值为0-18。共有75.8%的患者开始使用双磷酸盐治疗,41.8%的患者使用辅助药物。不到50%的患者需要手术治疗。成骨不全是一种遗传性慢性病理。Van Dijk严重程度分级和Aglan严重程度量表的应用简单,因此应用于改进骨折风险最高的人群的分类和对治疗的反应。由于这种疾病的发病率很低,因此提高认识和增加对这一主题的研究是很重要的。
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来源期刊
Intractable & rare diseases research
Intractable & rare diseases research MEDICINE, GENERAL & INTERNAL-
CiteScore
2.10
自引率
0.00%
发文量
29
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