Tsuchiya Kazuo, Nakamura Yutaro, Setoguchi Yasuhiro, Matsushima Sayomi, Iwaizumi Moriya, Inoue Yusuke, Yasui Hideki, Hozumi Hironao, Karayama Masato, Suzuki Yuzo, Furuhashi Kazuki, Enomoto Noriyuki, Fujisawa Tomoyuki, Inui Naoki, Suda Takafumi
Hamamatsu University School of Medicine.
Hamamatsu University School of Medicine, NHO Tenryu Hospital.
Sarcoidosis Vasc Diffuse Lung Dis. 2024 Sep 24;41(3):e2024033. doi: 10.36141/svdld.v41i3.15419.
Mutations in ABCA3 can result in surfactant deficiency, leading to respiratory distress syndrome in term neonates, and interstitial lung disease (ILD) in children. Here, we report an extremely rare case of ILD in an identical twin with novel ABCA3 germline mutations. Interestingly, they showed mostly similar, but slightly different, clinical features. Our cases suggest that, in addition to genetic factors, non-genetic factors are involved in the severity of the disease and its clinical course. Studies of gene-environment interactions, especially with twins, are needed, as they may contribute to the understanding of the clinical heterogeneity of ILD and its association with various underlying conditions as well as rare variant mutations.
ABCA3基因的突变可导致表面活性剂缺乏，从而导致足月儿出现呼吸窘迫综合征，儿童出现间质性肺病（ILD）。在此，我们报告了一例极为罕见的同卵双胞胎患ILD的病例，其携带新的ABCA3种系突变。有趣的是，他们表现出大多相似但略有不同的临床特征。我们的病例表明，除了遗传因素外，非遗传因素也参与了疾病的严重程度及其临床病程。需要开展基因-环境相互作用的研究，尤其是对双胞胎的研究，因为它们可能有助于理解ILD的临床异质性及其与各种潜在疾病以及罕见变异突变的关联。
