Division of Genetics and Metabolism, Department of Pediatrics, Floating Hospital for Children at Tufts Medical Center, Boston, MA, USA.
Eur J Pediatr. 2013 Jan;172(1):39-43. doi: 10.1007/s00431-012-1830-5. Epub 2012 Sep 20.
Almost half of patients with Gaucher disease are diagnosed by the age of 10 years, and approximately two thirds are diagnosed by the age of 20 years. Besides symptomatic children, some presymptomatic children are being diagnosed through community screening programs and because of affected siblings. In addition, it is anticipated that in the near future, newborn screening for lysosomal diseases such as Gaucher disease will be introduced in the USA, identifying additional pre/nonsymptomatic children. Currently, there is no severity scoring system for children. A validated disease severity scoring system in the pediatric Gaucher population will be essential for classifying disease severity in these children, monitoring their disease progression, making decisions about when to treat them, and monitoring disease improvement with therapy. A severity scoring system will also be helpful in comparing therapeutic options as new therapies are designed. Therefore, a Pediatric Gaucher Severity Scoring System (PGS3) was devised using expert opinion and validated in 26 patients with type 1 Gaucher disease. The PGS3 correlates well with disease severity in patients at diagnosis and over time.
A practical system that will help clinical management, based on signs and symptoms in children with type 1 Gaucher disease, is presented.
约一半的戈谢病患者在 10 岁之前被诊断出，约三分之二在 20 岁之前被诊断出。除了有症状的儿童外，一些无症状的儿童通过社区筛查计划和受影响的兄弟姐妹被诊断出来。此外，预计在不久的将来，美国将引入戈谢病等溶酶体疾病的新生儿筛查，从而发现更多的潜在无症状儿童。目前，尚无儿童严重程度评分系统。在儿科戈谢病患者中建立一个经过验证的疾病严重程度评分系统对于对这些儿童进行疾病严重程度分类、监测疾病进展、决定何时治疗以及监测治疗后疾病改善至关重要。严重程度评分系统在设计新疗法时比较治疗方案也会很有帮助。因此，使用专家意见设计了儿科戈谢病严重程度评分系统（PGS3），并在 26 名 1 型戈谢病患者中进行了验证。PGS3 与患者诊断时和随时间推移的疾病严重程度密切相关。
提出了一种基于 1 型戈谢病儿童的体征和症状的实用系统，有助于临床管理。
