Central conducting lymphatic anomaly: from bench to bedside

被引:8
作者
Torales, Luciana Daniela Garlisi [2 ]
Sempowski, Benjamin A. [1 ]
Krikorian, Georgia L. [1 ]
Woodis, Kristina M. [1 ]
Paulissen, Scott M. [1 ]
Smith, Christopher L. [2 ]
Sheppard, Sarah E. [1 ,3 ]
机构
[1] Eunice Kennedy Shriver Natl Inst Child Hlth & Huma, Div Intramural Res, Unit Vasc Malformat, NIH, Bethesda, MD USA
[2] Childrens Hosp Philadelphia, Jill & Mark Fishman Ctr Lymphat Disorders, Div Cardiol, Philadelphia, PA USA
[3] 10 Ctr Dr,MSC 1103, Bethesda, MD 20892 USA
关键词
MAGNETIC-RESONANCE LYMPHOGRAPHY; PROTEIN-LOSING ENTEROPATHY; GROWTH-FACTOR-C; KAPOSIFORM LYMPHANGIOMATOSIS; VALVE DEVELOPMENT; THORACIC-DUCT; LYMPHANGIOGRAPHY FEASIBILITY; EMBRYONIC LYMPHANGIOGENESIS; CLINICAL FEASIBILITY; VASCULAR DEVELOPMENT;
D O I
10.1172/JCI172839
中图分类号
R-3 [医学研究方法]; R3 [基础医学];
学科分类号
1001 ;
摘要
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.
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页数:14
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