Congenital diaphragmatic defects: proposal for a new classification based on observations in 234 patients.
Congenital diaphragmatic defects: proposal for a new classification based on observations in 234 patients.
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DOI：
10.2350/11-05-1041-oa.1
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发表时间：
2012-07
期刊：
影响因子：
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通讯作者：
Pober BR
中科院分区：
文献类型：
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作者：
Ackerman KG;Vargas SO;Wilson JA;Jennings RW;Kozakewich HP;Pober BR
先天性膈肌缺损（cdd）是一种常见的先天性缺陷，但其发病机制目前尚不清楚。目前还没有系统的研究记录CDD的详细形态学，目前的隔膜表型分类模式不能完全捕捉到膈肌受累的位置和范围。为了确定CDD的解剖范围，我们从1927年至2006年波士顿儿童医院181例CDD患儿的尸检记录中回顾了膈病理。根据几个参数对缺陷进行分类，包括类型（通与不通）和位置（前、后等）。这些信息允许开发表型工作表，用于在波士顿儿童医院或麻省儿童总医院接受膈修复的患者。1990年至2006年间死亡的53名患者总共有63个缺陷。39例为“经典”CDD表型（64%后外侧，18%半膈肌发育不全，18%前外侧）。其余19个缺陷，不符合经典描述，位于膈后内侧，前外侧或外侧区域。手术修复期间收集的前瞻性数据显示，41例中有34例的后外侧缺损在器官移位的大小、位置、形状、类型和程度上表现出广泛的表型变异。先天性膈肌缺损表现出显著的表型变异。由于严格的解剖评估和文献记录是阐明这些疾病的发育生物学的重要步骤，我们建议使用本文提出的模型建立一个新的更精确的分类。
Congenital diaphragmatic defects (CDDs) are a common group of birth defects, yet we presently know little about their pathogenesis. No systematic study documenting the detailed morphology of CDD has been performed, and current classification schemata of diaphragm phenotypes incompletely capture the location and extent of diaphragmatic involvement. To define the range of CDD anatomy, diaphragmatic pathology was reviewed from an examination of 181 autopsy records of children with CDDs at Children’s Hospital Boston between 1927 and 2006. Defects were classified according to several parameters, including type (communicating versus noncommunicating) and location (anterior, posterior, etc.). The information permitted development of a phenotyping worksheet for prospective use on patients undergoing diaphragmatic repair at Children’s Hospital Boston or MassGeneral Hospital for Children. Fifty-three patients who died between 1990 and 2006 had a total of 63 defects. Thirty-nine had a “classic” CDD phenotype (64% posterolateral, 18% hemidiaphragmatic aplasia, and 18% anterior). The remaining 19 defects, not fitting classical descriptions, were located in the posteromedial, anterolateral, or lateral regions of the diaphragm. Prospective data collected during surgical repair revealed posterolateral defects in 34 of 41 cases that demonstrated wide phenotypic variability in size, location, shape, type, and extent of organ displacement. Congenital diaphragmatic defects display significant phenotypic variation. Because rigorous anatomic evaluation and documentation are important steps towards elucidating the developmental biology of these disorders, we suggest establishment of a new and more precise classification using the model presented herein.