Department of Surgery, Children's Hospital Boston and Harvard Medical School, Boston, MA 02115, USA.
J Pediatr Surg. 2011 Feb;46(2):e27-31. doi: 10.1016/j.jpedsurg.2010.10.027.
Hybrid lesions are part of a spectrum of rare pulmonary diseases that are characterized as having elements of both congenital pulmonary airway malformation and bronchopulmonary sequestration. Fetal thoracic masses arise from alterations during lung development that are separated by timing of the inciting event and are often associated with an underlying degree of bronchial atresia. There are a handful of documented reports of sequestrations occurring in siblings, but no known reports of prenatally diagnosed lesions occurring in families. We present a case of 2 siblings diagnosed prenatally with fetal thoracic lesions who underwent postnatal resection revealing hybrid lesions on pathologic examination. Newer radiologic techniques have increased our ability to detect these masses prenatally, as well as follow them throughout pregnancy to determine their natural history. Ongoing laboratory investigation into the etiology of congenital lung lesions has brought forth more questions and suggested a familial component at a cellular level that has not yet been fully discovered. We reviewed the current literature of factors contributing to the development of congenital lung lesions and suggest that there is a familial link in certain patient populations where screening may be indicated.
混合性病变是一组罕见肺部疾病的一部分,其特征为既有先天性肺气道畸形又有肺隔离症的成分。胎儿胸部肿块源于肺发育过程中的改变,这些改变由激发事件的时间分隔开,并且常伴有一定程度的支气管闭锁。有少数几例文献报道过肺隔离症在兄弟姐妹中发生,但没有已知的关于家族性产前诊断病变的报道。我们报告了一对产前诊断为胎儿胸部病变的同胞兄妹的病例,他们在产后接受了切除手术,病理检查显示为混合性病变。较新的放射学技术提高了我们在产前检测这些肿块的能力,以及在整个孕期跟踪它们以确定其自然病史的能力。对先天性肺病变病因的进一步实验室研究提出了更多的问题,并提示在某些尚未完全发现的细胞水平上存在家族因素。我们回顾了导致先天性肺病变发展的因素的现有文献,并建议在某些有家族史的患者群体中进行筛查。