Wallot M, Wagenvoort C, deMello D, Müller K M, Floros J, Roll C
Universitäts-Klinikum Essen, Klinik für Kinder- und Jugendmedizin, Germany.
Eur J Pediatr. 1999 Jun;158(6):513-8. doi: 10.1007/s004310051132.
Congenital alveolar proteinosis and misalignment of lung vessels are rare disorders. We report on five infants of consanguineous kindred. All infants were delivered at term after uneventful pregnancies. Shortly after birth they developed respiratory failure and severe persistent pulmonary hypertension. All died despite intensive care. Lung tissue of two infants was studied. Histological examination revealed combination of alveolar proteinosis and misalignment of lung vessels in one patient, alveolar proteinosis in the other. Immunostaining demonstrated surfactant protein B (SP-B) deficiency in both patients' lungs. In a further sibling, analysis of broncho-alveolar lavage fluid showed decreased surfactant protein. PCR and direct sequence analysis of the SP-B gene revealed three novel mutations. One of them, a single base deletion, shifts the reading frame at amino acid 122 and creates a premature termination of translation in exon 6. No mature SP-B protein is produced.
Surfactant protein B deficiency caused by mutations of the respective gene and misalignment of lung vessels can concur. Both diseases may have a pathogenetic factor in common.
先天性肺泡蛋白沉积症和肺血管排列紊乱是罕见疾病。我们报告了来自近亲家族的5名婴儿。所有婴儿均足月顺产，孕期正常。出生后不久，他们就出现了呼吸衰竭和严重的持续性肺动脉高压。尽管进行了重症监护，所有婴儿均死亡。对其中两名婴儿的肺组织进行了研究。组织学检查显示，一名患者存在肺泡蛋白沉积症合并肺血管排列紊乱，另一名患者仅有肺泡蛋白沉积症。免疫染色显示两名患者的肺中表面活性蛋白B（SP-B）缺乏。在另一名同胞中，支气管肺泡灌洗液分析显示表面活性蛋白减少。对SP-B基因进行聚合酶链反应（PCR）和直接测序分析发现了三个新突变。其中一个是单碱基缺失，导致第122位氨基酸处的阅读框移位，并在外显子6中产生翻译提前终止，无法产生成熟的SP-B蛋白。
由相应基因突变引起的表面活性蛋白B缺乏和肺血管排列紊乱可能同时存在。这两种疾病可能有共同的致病因素。
