Thouvenin Guillaume, Nathan Nadia, Epaud Ralph, Clement Annick
Département de Pneumologie Pédiatrique, Hôpital Armand Trousseau, AP-HP, Université Pierre et Marie Curie-Paris 6, Inserm UMR S-U938, Paris, France.
BMJ Case Rep. 2013 Jun 24;2013:bcr2013009988. doi: 10.1136/bcr-2013-009988.
Pulmonary surfactant deficiency caused by mutations in ABCA3 (ATP-binding cassette transporter of the A subfamily, member 3) gene results in diffuse parenchymal lung disease (DPLD) in children. So far, systemic steroids are the main treatment, with however limited efficacy. We report the case of a young boy showing a dramatic long-term improvement of respiratory disease by low-dose azithromycin (AZM) with no side effect after 6 years of treatment. Cellular and molecular studies are ongoing to progress in the understanding of the mechanisms involved. On behalf of the National Reference Center for rare lung diseases in France (Respirare, http://www.respirare.fr), clinical studies on AZM in various forms of DPLD in children have been initiated and should provide information on the types of paediatric DPLD that may benefit from this treatment.
由ABCA3（A亚家族ATP结合盒转运体成员3）基因突变引起的肺表面活性物质缺乏会导致儿童弥漫性实质性肺疾病（DPLD）。到目前为止，全身用类固醇是主要治疗方法，但其疗效有限。我们报告了一名小男孩的病例，该男孩在接受低剂量阿奇霉素（AZM）治疗6年后，呼吸系统疾病得到了显著的长期改善，且无副作用。目前正在进行细胞和分子研究，以深入了解其中涉及的机制。代表法国罕见肺病国家参考中心（Respirare，http://www.respirare.fr），已启动了关于AZM治疗儿童各种形式DPLD 的临床研究，这些研究应能提供可能从该治疗中获益的儿童DPLD类型的相关信息。
