Vascular Anomalies Center, Children's Hospital Colorado, Aurora, Colorado, USA.
Center for Cancer and Blood Disorders, Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, Colorado, USA.
Pediatr Blood Cancer. 2022 Aug;69 Suppl 3:e29246. doi: 10.1002/pbc.29246.
Congenital lymphatic leak may develop in patients with maldeveloped lymphatics and result in life-threatening fluid and electrolyte imbalance, protein deficiency, and immunodeficiency. Rapid diagnosis and therapy are necessary to prevent these complications; however, the field lacks clinical trials to support standardized diagnostic treatment guidelines. We present our current multidisciplinary approach to the diagnosis and management of congenital lymphatic leak including chylous pleural effusions and ascites. Depending on the rate of lymphatic leak, therapy can range from observation with nutritional modifications to surgical and interventional procedures aimed to reduce lymphatic drainage. Modalities to image central and peripheral lymphatics have advanced considerably. Genetic variants and subsequent targets that drive lymphatic maldevelopment have expanded the repertoire of possible pharmacotherapeutic options.
先天性淋巴液漏可发生在淋巴管发育不良的患者中,导致危及生命的液体和电解质失衡、蛋白质缺乏和免疫功能缺陷。为了预防这些并发症,需要快速诊断和治疗;然而,该领域缺乏临床试验来支持标准化的诊断治疗指南。我们目前提出了多学科的方法来诊断和管理先天性淋巴液漏,包括乳糜性胸腔积液和腹水。根据淋巴液漏的速度,治疗范围可以从营养改变的观察到旨在减少淋巴引流的手术和介入治疗。用于成像中央和外周淋巴管的方式已经有了很大的进步。导致淋巴管发育不良的遗传变异和随后的靶标扩大了可能的药物治疗选择的范围。