Garlisi Torales Luciana Daniela, Sempowski Benjamin A, Krikorian Georgia L, Woodis Kristina M, Paulissen Scott M, Smith Christopher L, Sheppard Sarah E
Unit on Vascular Malformations, Division of Intramural Research, Eunice Kennedy Shriver, National Institute of Child Health and Human Development, NIH, Bethesda, Maryland, USA.
Division of Cardiology, Jill and Mark Fishman Center for Lymphatic Disorders, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
J Clin Invest. 2024 Apr 15;134(8):e172839. doi: 10.1172/JCI172839.
Central conducting lymphatic anomaly (CCLA) is a complex lymphatic anomaly characterized by abnormalities of the central lymphatics and may present with nonimmune fetal hydrops, chylothorax, chylous ascites, or lymphedema. CCLA has historically been difficult to diagnose and treat; however, recent advances in imaging, such as dynamic contrast magnetic resonance lymphangiography, and in genomics, such as deep sequencing and utilization of cell-free DNA, have improved diagnosis and refined both genotype and phenotype. Furthermore, in vitro and in vivo models have confirmed genetic causes of CCLA, defined the underlying pathogenesis, and facilitated personalized medicine to improve outcomes. Basic, translational, and clinical science are essential for a bedside-to-bench and back approach for CCLA.
中央传导性淋巴异常（CCLA）是一种复杂的淋巴异常，其特征为中央淋巴管异常，可能表现为非免疫性胎儿水肿、乳糜胸、乳糜腹水或淋巴水肿。过去，CCLA的诊断和治疗一直颇具难度；然而，近期成像技术的进展，如动态对比磁共振淋巴造影，以及基因组学的进展，如深度测序和游离DNA的利用，改善了诊断，并细化了基因型和表型。此外，体外和体内模型已证实CCLA的遗传病因，明确了潜在发病机制，并推动了个性化医疗以改善治疗结果。基础科学、转化科学和临床科学对于CCLA从床边到实验室再回到床边的研究方法至关重要。
