Suppr超能文献

努南综合征合并肺血管炎及马蹄肾

Pulmonary Vasculitis and a Horseshoe Kidney in Noonan Syndrome.

作者信息

Puvabanditsin Surasak, Abellar Rosanna, Madubuko Adaora, Mehta Rajeev, Walzer Lauren

机构信息

Department of Pediatrics, Rutgers Robert Wood Johnson Medical School, New Brunswick, NJ, USA.

Department of Pathology, Columbia University Medical Center, New York, NY, USA.

出版信息

Case Rep Pathol. 2018 Jan 29;2018:6829586. doi: 10.1155/2018/6829586. eCollection 2018.

Abstract

We report a term male neonate with congenital myeloproliferative disorder, thrombocytopenia, a horseshoe kidney, feeding difficulty secondary to dysphagia/foregut dysmotility, and respiratory failure. Prenatal molecular genetic analysis revealed a fetus carrying pathogenic variant in . The infant eventually succumbed to respiratory failure. Bacterial and viral cultures/studies were all no growth/negative. Pulmonary capillaritis and vasculitis were noted at autopsy. This report presents a new case of Noonan syndrome with unusual associated disorders and a review of the literature.

摘要

我们报告了一名足月儿男婴,患有先天性骨髓增殖性疾病、血小板减少症、马蹄肾、因吞咽困难/前肠动力障碍继发的喂养困难以及呼吸衰竭。产前分子遗传学分析显示胎儿携带致病变异。该婴儿最终死于呼吸衰竭。细菌和病毒培养/研究均无生长/呈阴性。尸检发现肺部毛细血管炎和血管炎。本报告介绍了一例伴有不寻常相关疾病的努南综合征新病例并对文献进行了综述。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/70cc/5833241/c06ecd3d5e4c/CRIPA2018-6829586.001.jpg

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验