原发性的淋巴水肿占淋巴水肿发病率的一半。由于发病机理不明，原发性淋巴水肿比继发性的更难控制，临床治疗长期没有突破性进展。近年陆续发现的原发性淋巴水肿发病相关变异基因为揭示原发性淋巴水肿多样性的淋巴管病变的病变基础提供了明确的研究目标。本项目锁定新近发现的调节淋巴系统生长并与原发性淋巴水肿发生密切相关的基因：SOX18，FOXC2，FLT4，NRP2，CCBE1， GJC2， HGF/MET ，FABP4， VCAM1， PTPN14， Slp 76，Syk, ephin-B2， Prox1， T1α/podoplanin，拟对患者的淋巴管内皮细胞和外周血样进行基因变异进行甄别检测，在确定特异变异基因的基础上，结合动态淋巴造影和组织学对患肢各级淋巴管的形态和功能进行多层次和多方位的研究，探寻特定的基因变异与淋巴管病变之间的关联及因果关系，以期揭示原发性淋巴水肿发病机理，引导研发新的治疗手段。

Primary lymphedema accounts for half the incidence of the total number of lymphedema. Management of the individual patient with primary lymphedema has been hampered by difficulties in understanding the complex underlying pathogenesis and determining the prognosis. A series mutant gene regulating lymphatic system development has been discovered of contribute to primary lymphedema in recent years. However the mechanism of gene mutation give rite to lymphatic malformation remains largely unknown. The aim of the present study is to detect mutant gene in both peripheral blood sample and lymphatic endothelial cell of lymphedematous tissue, including: SOX18，FOXC2，FLT4，NRP2，CCBE1， GJC2， HGF/MET ，FABP4， VCAM1， PTPN14， Slp 76， ephin-B2， Prox1， T1α/podoplanin. In the mean time lymphatic collectors and primary lymphatics are tested by 3D dynamic magnetic resonance lymphangiography and real time fluorescence lymphangiography as well as histology study to evaluate morphological and functional changes of the lymphatic system. The data of gene mutation detection, lymphatic imaging and histology will be analyzed in individual patient. The relationship of gene mutation and structural and functional anomalies of the lymphatics in lymphedematous limbs is studied to explore the mechanism underline primary lymphedema and to promote the development of new targeted treatment.