Blei Francine
Department of Pediatrics, Stephen D. Hassenfeld Center of NYU Medical Center, New York, New York 10016, USA.
Curr Opin Pediatr. 2005 Aug;17(4):501-9. doi: 10.1097/01.mop.0000171322.76429.80.
Patients with vascular and lymphatic anomalies are often 'medical orphans' ascertained through distinct medical specialists. Multidisciplinary vascular anomalies programs provide focused expertise in diagnosis and treatment for patients. National and international workshops on vascular anomalies are fostering clinical and basic science research to enhance our understanding of vascular development and vascular anomalies. Herewith is presented an update of recent advances in the study of vascular/lymphatic anomalies.
New original findings include (1) the identification of distinct cell surface markers and other cellular properties in hemangiomas and vascular malformations relevant to vascular development, (2) the discovery of novel genetic mutations and susceptibility genes in patients with vascular anomalies, (3) recognition of new risk stratifications and clinical issues for patients with hemangiomas and vascular malformations, and (4) the elucidation of sequelae from the disorders as well as side effects of recent and previous therapies for vascular anomalies.
Vascular anomalies are an attractive model for the study of human disorders of vasculogenesis and angiogenesis. The etiology of these disorders is unclear and likely represents a multifactorial process. Clinical clues are leading to scientific investigations that may enable targeted therapies, prevention strategies, or both.
血管和淋巴管异常患者常常是通过不同医学专科确诊的“医学孤儿”。多学科血管异常诊疗项目为患者提供了诊断和治疗方面的专业知识。国内和国际血管异常研讨会正在推动临床和基础科学研究,以加深我们对血管发育和血管异常的理解。本文介绍了血管/淋巴管异常研究的最新进展。
新的原创性发现包括:(1)在与血管发育相关的血管瘤和血管畸形中鉴定出不同的细胞表面标志物和其他细胞特性;(2)在血管异常患者中发现新的基因突变和易感基因;(3)认识到血管瘤和血管畸形患者的新风险分层和临床问题;(4)阐明这些疾病的后遗症以及近期和既往血管异常治疗的副作用。
血管异常是研究人类血管生成和血管新生紊乱的一个有吸引力的模型。这些疾病的病因尚不清楚,可能是一个多因素过程。临床线索正在引导科学研究,这可能有助于实现靶向治疗、预防策略或两者兼顾。