Yokota Takuya, Matsumura Yoshihiro, Ban Nobuhiro, Matsubayashi Tadashi, Inagaki Nobuya
Department of Pediatrics, Seirei Hamamatsu General Hospital, Shizuoka 430-8558, Japan.
Eur J Pediatr. 2008 Jun;167(6):691-3. doi: 10.1007/s00431-007-0542-8. Epub 2007 Jul 6.
A boy without symptoms up to 12 months of age started with persisting cough followed by respiratory failure at 18 months of age, resulting in mechanical ventilation because of alveolar proteinosis. Lung biopsy showed PAS-positive material. PCR was negative for CMV, Pneumocystis jiroveci and adenovirus. BALF showed mature SP-B. Analysis of the ATP-binding cassette transporter A3 (ABCA3; OMIM 601615) gene showed a compound heterozygous mutation from paternal W1148X and maternal T1114A. Alveolar lavage with 720 mg of bovine surfactant allowed weaning from ventilator support. Heterozygous mutation in the ABCA3 gene could be associated with a milder evolution as compared to the homozygous frequently lethal evolution.
一名12个月大前无症状的男孩，18个月大时开始持续咳嗽，随后因肺泡蛋白沉积症导致呼吸衰竭，需要机械通气。肺活检显示PAS阳性物质。巨细胞病毒、耶氏肺孢子菌和腺病毒的聚合酶链反应检测均为阴性。支气管肺泡灌洗液显示有成熟的表面活性蛋白B。对ATP结合盒转运体A3（ABCA3；OMIM 601615）基因的分析显示，存在来自父亲的W1148X和来自母亲的T1114A的复合杂合突变。用720毫克牛肺表面活性剂进行肺泡灌洗后，患儿得以脱机。与通常致命的纯合子情况相比，ABCA3基因的杂合突变可能与病情进展较缓和有关。
