Abstract：
Fabry disease (FD), an X-linked disorder resulting from dysfunction of α-galactosidase A, can result in significant complications. Early intervention yields better outcomes, but misdiagnosis or delayed diagnosis is common, impacting prognosis. Thus, early detection is crucial in the clinical diagnosis and treatment of FD. While newborn screening for FD has been implemented in certain regions, challenges persist in enzyme activity detection techniques, particularly for female and late-onset patients. Further exploration of improved screening strategies is warranted. This study retrospectively analyzed genetic screening results for pathogenic GLA variants in 17,171 newborns. The results indicated an estimated incidence of FD in the Nanjing region of China of approximately 1 in 1321. The most prevalent pathogenic variant among potential FD patients was c.640-801G > A (46.15 %). Furthermore, the residual enzyme activity of the pathogenic variant c.911G > C was marginally higher than that of other variants, and suggesting that genetic screening may be more effective in identifying potential female and late-onset patients compared to enzyme activity testing. This research offers initial insights into the effectiveness of GLA genetic screening and serves as a reference for early diagnosis, treatment, and genetic counseling in FD.
摘要：
法布里病（FD），由α-半乳糖苷酶A功能障碍引起的X连锁疾病，会导致严重的并发症。早期干预会产生更好的结果，但是误诊或延误诊断很常见，影响预后。因此，早期发现对FD的临床诊断和治疗至关重要。虽然某些地区已经实施了新生儿FD筛查，酶活性检测技术仍然存在挑战，特别是女性和迟发性患者。需要进一步探索改进的筛查策略。这项研究回顾性分析了17,171名新生儿的致病性GLA变异的遗传筛查结果。结果表明，中国南京地区FD的估计发病率约为1321年1例。潜在FD患者中最常见的致病变异为c.640-801G>A(46.15%)。此外，致病变体c.911G>C的残余酶活性略高于其他变体，并表明与酶活性测试相比，基因筛查在识别潜在女性和迟发性患者方面可能更有效。这项研究为GLA基因筛查的有效性提供了初步的见解，并为早期诊断提供了参考。治疗,和FD中的遗传咨询。
