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Abstract：
BACKGROUND: In this study we aimed to describe the morphological and pathogenetic differences between tracheal agenesis and tracheal atresia, which are not clearly distinguished from each other in the literature, and to contribute thereby to the understanding and management of these conditions. Both tracheal agenesis and tracheal atresia represent rare disorders of still unknown aetiology that cannot be detected by prenatal ultrasound. If the affected foetuses survive until birth these conditions result in respiratory failure and in futile attempts to rescue the infant\'s life.
RESULTS: Autopsies and genetic analyses, including singleton or trio exome sequencing, were performed on five neonates/foetuses with tracheal agenesis and three foetuses with tracheal atresia. Tracheal agenesis was characterized by absence of the sublaryngeal trachea and presence of a bronchooesophageal fistula and by pulmonary isomerism and occurred as an isolated malformation complex or as part of a VACTERL association. Special findings were an additional so-called \'pig bronchus\' and a first case of tracheal agenesis with sirenomelia. Tracheal atresia presenting with partial obliteration of its lumen and persistence of a fibromuscular streak resulted in CHAOS. This condition was associated with normal lung lobulation and single, non-VACTERL type malformations. Trio ES revealed a novel variant of MAPK11 in one tracheal agenesis case. Its involvement in tracheooesophageal malformation is herein discussed, but remains hypothetical.
CONCLUSIONS: Tracheal agenesis and tracheal atresia represent different disease entities in terms of morphology, pathogenesis and accompanying anomalies due to a primary developmental and secondary disruptive possibly vascular disturbance, respectively.
RESULTS: Autopsies and genetic analyses, including singleton or trio exome sequencing, were performed on five neonates/foetuses with tracheal agenesis and three foetuses with tracheal atresia. Tracheal agenesis was characterized by absence of the sublaryngeal trachea and presence of a bronchooesophageal fistula and by pulmonary isomerism and occurred as an isolated malformation complex or as part of a VACTERL association. Special findings were an additional so-called \'pig bronchus\' and a first case of tracheal agenesis with sirenomelia. Tracheal atresia presenting with partial obliteration of its lumen and persistence of a fibromuscular streak resulted in CHAOS. This condition was associated with normal lung lobulation and single, non-VACTERL type malformations. Trio ES revealed a novel variant of MAPK11 in one tracheal agenesis case. Its involvement in tracheooesophageal malformation is herein discussed, but remains hypothetical.
CONCLUSIONS: Tracheal agenesis and tracheal atresia represent different disease entities in terms of morphology, pathogenesis and accompanying anomalies due to a primary developmental and secondary disruptive possibly vascular disturbance, respectively.
摘要：
背景：在这项研究中，我们旨在描述气管发育不全和气管闭锁之间的形态和致病差异，在文献中没有明确区分，从而有助于理解和管理这些条件。气管发育不全和气管闭锁均代表病因尚未知的罕见疾病，产前超声无法检测到。如果受影响的胎儿存活到出生，这些情况会导致呼吸衰竭，并徒劳地试图挽救婴儿的生命。
结果：尸体解剖和遗传分析，包括单例或三外显子组测序，对5例气管发育不全的新生儿/胎儿和3例气管闭锁的胎儿进行了检查。气管发育不全的特征是不存在喉下气管，存在支气管食管瘘和肺异构体，并作为孤立的畸形复合物或VACTERL关联的一部分发生。特殊发现是另一例所谓的“猪支气管”，以及第一例气管发育不全伴sirenomelia。气管闭锁表现为管腔部分闭塞和持续存在的纤维肌肉条纹导致CHAOS。这种情况与正常的肺分叶和单一有关，非VACTERL型畸形。TrioES在一个气管发育不全病例中揭示了MAPK11的新变体。本文讨论了其与气管食管畸形的关系，但仍然是假设。
结论：气管发育不全和气管闭锁在形态学上代表了不同的疾病实体，发病机制和伴随的异常，由于原发性发育和继发性破坏性血管紊乱，分别。
结果：尸体解剖和遗传分析，包括单例或三外显子组测序，对5例气管发育不全的新生儿/胎儿和3例气管闭锁的胎儿进行了检查。气管发育不全的特征是不存在喉下气管，存在支气管食管瘘和肺异构体，并作为孤立的畸形复合物或VACTERL关联的一部分发生。特殊发现是另一例所谓的“猪支气管”，以及第一例气管发育不全伴sirenomelia。气管闭锁表现为管腔部分闭塞和持续存在的纤维肌肉条纹导致CHAOS。这种情况与正常的肺分叶和单一有关，非VACTERL型畸形。TrioES在一个气管发育不全病例中揭示了MAPK11的新变体。本文讨论了其与气管食管畸形的关系，但仍然是假设。
结论：气管发育不全和气管闭锁在形态学上代表了不同的疾病实体，发病机制和伴随的异常，由于原发性发育和继发性破坏性血管紊乱，分别。
