Dept. of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
Mol Genet Metab. 2011 Sep-Oct;104(1-2):144-8. doi: 10.1016/j.ymgme.2011.07.014. Epub 2011 Jul 23.
Dried blood spot (DBS) methods are currently available for identification of a range of lysosomal storage disorders (LSDs). These disorders are generally characterized by a deficiency of activity of a lysosomal enzyme and by a broad spectrum of phenotypes. Diagnosis of LSD patients is often delayed, which is of particular concern as therapeutic outcomes (e.g. enzyme replacement therapy) are generally more favorable in early disease stages. Experts in the field of LSDs diagnostics and screening programs convened and reviewed experiences with the use of DBS methods, and discuss the diagnostic challenges, possible applications and quality programs in this paper. Given the easy sampling and shipping and stability of samples, DBS has evident advantages over other laboratory methods and can be particularly helpful in the early identification of affected LSD patients through neonatal screening, high-risk population screening or family screening.
干血斑（DBS）方法目前可用于鉴定一系列溶酶体贮积症（LSD）。这些疾病通常表现为溶酶体酶活性缺乏和广泛的表型。LSD 患者的诊断往往被延误，这尤其令人关注，因为治疗效果（例如酶替代疗法）在疾病早期阶段通常更为有利。溶酶体贮积症诊断和筛查计划领域的专家们召开会议，回顾了使用 DBS 方法的经验，并在本文中讨论了诊断挑战、可能的应用和质量计划。鉴于其易于采样和运输以及样本稳定性，DBS 相对于其他实验室方法具有明显优势，特别是通过新生儿筛查、高危人群筛查或家系筛查，有助于早期发现受影响的 LSD 患者。
