Department of Dermatology, Texas Children's Hospital, Baylor College of Medicine, Houston, TX.
Department of Urology, University of California-San Francisco, San Francisco, CA.
J Pediatr. 2024 Sep;272:114101. doi: 10.1016/j.jpeds.2024.114101. Epub 2024 May 15.
To develop consensus on diagnostic criteria for LUMBAR syndrome, the association of segmental infantile hemangiomas that affect the Lower body with Urogenital anomalies, Ulceration, spinal cord Malformations, Bony defects, Anorectal malformations, Arterial anomalies and/or Renal anomalies.
These diagnostic criteria were developed by an expert multidisciplinary and multi-institutional team based on analysis of peer-reviewed data, followed by electronic-Delphi consensus of a panel of 61 international pediatric specialists.
After 2 Delphi rounds, a 92% or higher level of agreement was reached for each Delphi statement. 98% of panelists agreed with the diagnostic criteria, and 100% agreed the criteria would be useful in clinical practice. The diagnosis of LUMBAR requires the presence of a segmental, or patterned, infantile hemangioma of the lumbosacral, sacrococcygeal, or pelvic cutaneous regions plus one additional criterion of the urogenital, spinal, bony, anorectal, arterial, or renal organ systems.
These diagnostic criteria will enhance clinical care by improving screening, detection, and overall awareness of this poorly understood neurocutaneous disorder. The criteria can be utilized by a wide variety of pediatric subspecialists. In addition, formal criteria will improve phenotypic uniformity among LUMBAR syndrome cohorts and a patient registry, allowing investigators to assess clinical features, long-term outcomes, and results of genetic sequencing in a standardized manner. Finally, these criteria will serve as a starting point for prospective studies to establish formal screening and management guidelines.
针对腰椎综合征的诊断标准达成共识，该综合征是指下半身节段性婴儿血管瘤与泌尿生殖异常、溃疡、脊髓畸形、骨缺陷、肛门直肠畸形、动脉异常和/或肾脏异常相关。
这些诊断标准是由一个多学科、多机构的专家团队基于对同行评议数据的分析制定的，然后通过对 61 名国际儿科专家小组的电子德尔菲共识进行了电子德尔菲共识。
经过两轮德尔菲调查，每一轮德尔菲声明的一致性都达到了 92%或更高。98%的小组成员同意这些诊断标准，并且 100%的小组成员认为这些标准在临床实践中是有用的。腰椎综合征的诊断需要存在腰骶部、骶尾部或骨盆皮肤区域的节段性或模式性婴儿血管瘤，加上泌尿生殖、脊柱、骨骼、肛门直肠、动脉或肾脏器官系统的一个额外标准。
这些诊断标准将通过提高筛查、检测和对这种了解甚少的神经皮肤疾病的整体认识，来改善临床护理。这些标准可以由各种儿科亚专业人员使用。此外，正式的标准将在腰椎综合征队列和患者登记处中提高表型的一致性，使研究人员能够以标准化的方式评估临床特征、长期结果和基因测序的结果。最后，这些标准将作为前瞻性研究的起点，以建立正式的筛查和管理指南。
