Scott Zeni, Zhou Cynthia, Tracy Elisabeth, ElMallah Mai K, Yousef Shatha
Department of Pediatrics, Duke University School of Medicine, Durham, NC, 27710, USA.
Department of Surgery, Duke University School of Medicine, Durham, NC, 27710, USA.
Respir Med Case Rep. 2023 Mar 22;43:101842. doi: 10.1016/j.rmcr.2023.101842. eCollection 2023.
Congenital lobar emphysema (CLE) is caused by airway defects resulting in air trapping and hyperinflation of the affected lobe. Case reports of families affected with CLE imply a genetic etiology. However, the genetic contributions have not been well-described. We present a case of CLE in a monozygotic twin brother with respiratory distress diagnosed with right upper lobe (RUL) CLE and treated with a lobectomy. His asymptomatic twin brother was screened prophylactically, found to have RUL CLE and subsequently underwent a lobectomy. Our report provides further evidence supporting the genetic predisposition and potential benefit of early screening for CLE in comparable scenarios.
先天性大叶性肺气肿（CLE）由气道缺陷引起，导致患叶气体潴留和过度充气。CLE患者家族的病例报告提示其存在遗传病因。然而，遗传因素的作用尚未得到充分描述。我们报告一例患有呼吸窘迫的单卵双胞胎兄弟，诊断为右上叶（RUL）CLE并接受了肺叶切除术。对其无症状的双胞胎兄弟进行了预防性筛查，发现患有RUL CLE，随后也接受了肺叶切除术。我们的报告提供了进一步的证据，支持在类似情况下CLE的遗传易感性以及早期筛查的潜在益处。
