Pediatric Unit, S. Orsola - Malpighi Clinic, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Via Giuseppe Massarenti 9, 40138, Bologna, Italy.
Unit of Rare Diseases, Department of Pediatrics, Giannina Gaslini Institute, Genoa, Italy.
Orphanet J Rare Dis. 2023 Jun 16;18(1):151. doi: 10.1186/s13023-023-02760-z.
Gaucher disease (GD) diagnosis can be delayed due to non-specific symptoms and lack of awareness, leading to unnecessary procedures and irreversible complications. GAU-PED study aims to assess GD prevalence in a high-risk pediatric population and the presence, if any, of novel clinical or biochemical markers associated with GD.
DBS samples were collected and tested for β-glucocerebrosidase enzyme activity for 154 patients selected through the algorithm proposed by Di Rocco et al. Patients showing β-glucocerebrosidase activity below normal values were recalled to confirm the enzyme deficiency with the gold standard essay on cellular homogenate. Patients tested positive at the gold standard analysis were evaluated through GBA1 gene sequencing.
14 out of 154 patients were diagnosed with GD, with a prevalence of 9.09% (5.06-14.78%, CI 95%). Hepatomegaly, thrombocytopenia, anemia, growth delay/deceleration, elevated serum ferritin, elevated Lyso-Gb1 and chitotriosidase were significantly associated with GD.
GD prevalence in a pediatric population at high-risk appeared to be higher compared to high-risk adults. Lyso-Gb1 was associated with GD diagnosis. The algorithm proposed by Di Rocco et al. can potentially improve the diagnostic accuracy of pediatric GD, allowing the prompt start of therapy, aiming to reduce irreversible complications.
戈谢病（GD）的诊断可能会由于非特异性症状和缺乏认识而延迟，导致不必要的程序和不可逆转的并发症。GAU-PED 研究旨在评估高风险儿科人群中 GD 的患病率，以及是否存在与 GD 相关的新的临床或生化标志物。
通过 Di Rocco 等人提出的算法，对 154 名患者进行了 DBS 样本采集和β-葡糖苷酶酶活性检测。β-葡糖苷酶活性低于正常范围的患者被召回，以金标准细胞匀浆法确认酶缺乏。在金标准分析中检测为阳性的患者通过 GBA1 基因测序进行评估。
154 名患者中有 14 名被诊断为 GD，患病率为 9.09%（95%CI 5.06-14.78%）。肝肿大、血小板减少、贫血、生长迟缓/减速、血清铁蛋白升高、溶酶体-Gb1 和壳三糖苷酶升高与 GD 显著相关。
高风险儿科人群中的 GD 患病率似乎高于高风险成人。溶酶体-Gb1 与 GD 诊断相关。Di Rocco 等人提出的算法可以提高儿科 GD 的诊断准确性，从而能够及早开始治疗，旨在减少不可逆转的并发症。
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