Grizelj Ruža, Bojanić Katarina, Vuković Jurica, Weingarten Toby N, Schroeder Darrell R, Sprung Juraj
Department of Pediatrics, University of Zagreb, University Hospital Centre Zagreb, School of Medicine, Zagreb, Croatia.
Division of Neonatology, Department of Obstetrics and Gynecology, University Hospital Merkur, Zagreb, Croatia.
Am J Perinatol. 2017 Jul;34(9):895-904. doi: 10.1055/s-0037-1599821. Epub 2017 Mar 16.
Congenital diaphragmatic hernia (CDH) has different clinical presentations depending on whether it is right sided (R-CDH) or left sided (L-CDH). Some have suggested that L-CDH and R-CDH may represent different syndromic phenotypes. This theory would be indirectly supported if different nondiaphragmatic anomalies were associated with laterality. We assessed whether CDH laterality is associated with specific types of nondiaphragmatic anomalies. Cases of CDH were retrospectively identified from five centers, and associated congenital anomalies, prenatal diagnosis, demographics, birth characteristics, and side of the CDH were analyzed. CDH characteristics were summarized according to the absence (isolated) or presence (complex) of nondiaphragmatic malformations. Among 228 neonates with CDH, 140 (61%) had isolated CDH and 88 (39%) had complex CDH. Complex CDH was significantly associated with being small for gestational age (odds ratio [95% confidence interval, CI]: 8.3 [1.9-35.7]; = 0.005) and having L-CDH (odds ratio [95% CI]: 3.6 [1.5-8.9]; = 0.005). The overall proportion with anomalies differed by side (42% for L-CDH, 23% for R-CDH; = 0.02), but the rates of anomalies in specific organ systems did not differ. The rate of associated nondiaphragmatic anomalies by specific organ system did not differ between L-CDH and R-CDH, which suggests that they represent the same phenotypic entity.
先天性膈疝（CDH）根据其是右侧（R - CDH）还是左侧（L - CDH）而有不同的临床表现。一些人认为L - CDH和R - CDH可能代表不同的综合征表型。如果不同的非膈部异常与左右侧相关，那么这一理论将得到间接支持。我们评估了CDH的左右侧是否与特定类型的非膈部异常相关。 从五个中心回顾性确定CDH病例，并分析相关的先天性异常、产前诊断、人口统计学、出生特征以及CDH的侧别。根据是否存在（复杂型）非膈部畸形总结CDH特征。 在228例患有CDH的新生儿中，140例（61%）为孤立性CDH，88例（39%）为复杂型CDH。复杂型CDH与小于胎龄儿显著相关（优势比[95%置信区间，CI]：8.3 [1.9 - 35.7]；P = 0.005）以及与L - CDH相关（优势比[95% CI]：3.6 [1.5 - 8.9]；P = 0.005）。伴有异常的总体比例因侧别而异（L - CDH为42%，R - CDH为23%；P = 0.02），但特定器官系统的异常发生率并无差异。 L - CDH和R - CDH之间特定器官系统相关的非膈部异常发生率并无差异，这表明它们代表相同的表型实体。
