Verhasselt-Crinquette Marie, Franquet-Ansart Hélène, Rakza Thameur, Storme Laurent, Copin Marie-Christine, Devisme Louise
Pôle de pathologie, centre de biologie-pathologie, CHRU, Lille cedex, France.
Ann Pathol. 2009 Dec;29(6):481-4. doi: 10.1016/j.annpat.2009.10.030.
Congenital pulmonary alveolar proteinosis is an uncommon affection, distinct from adult's alveolar proteinosis by its clinical, pathological, etiological and evolutive characteristics. We report two cases of congenital alveolar proteinosis related to a surfactant protein B deficiency. Clinical presentations were similar: the two children were full-term newborns and had swiftly developed respiratory distress. Chest radiography demonstrated bilateral alveolar syndrome. Echocardiography was normal. There was no sign of infection. The two children died respectively at three weeks and two months of life. Lung biopsy showed lesions of alveolar proteinosis in the two cases. Both children were homozygotes for the 121ins2 mutation of the SFTPB gene. Diagnosis of surfactant protein B deficiency must be suspected in congenital alveolar proteinosis. It can be confirmed by the absence of detection of the surfactant B protein by immunohistochemistry on fixed and paraffin-embedded lung tissue or by western blot on bronchoalveolar fluid and by the absence of mRNA by RT-PCR. We report the value of molecular diagnosis for genetic counseling and the possibility of early prenatal diagnosis by trophoblast biopsy.
先天性肺泡蛋白沉积症是一种罕见疾病，在临床、病理、病因及演变特征方面与成人肺泡蛋白沉积症不同。我们报告两例与表面活性物质蛋白B缺乏相关的先天性肺泡蛋白沉积症病例。临床表现相似：两名患儿均为足月儿，迅速出现呼吸窘迫。胸部X线片显示双侧肺泡综合征。超声心动图正常。无感染迹象。两名患儿分别于出生后三周和两个月死亡。肺活检显示两例均有肺泡蛋白沉积症病变。两名患儿均为SFTPB基因121ins2突变的纯合子。先天性肺泡蛋白沉积症必须怀疑表面活性物质蛋白B缺乏。通过对固定石蜡包埋的肺组织进行免疫组化检测未发现表面活性物质B蛋白，或对支气管肺泡灌洗液进行蛋白质印迹法检测未发现，以及通过逆转录聚合酶链反应未发现mRNA，可确诊。我们报告了分子诊断在遗传咨询中的价值以及通过滋养层活检进行早期产前诊断的可能性。
