新生儿Noonan综合征1例并文献复习

A Case Report of Noonan Syndrome in Newborn Infant and Literature Review

摘要: Noonan综合征(NS)是一种丝裂原活化蛋白激酶信号传导通路(RAS-MAPK)相关基因突变导致的一种遗传性疾病，以常染色体显性遗传为主，个别基因突变会导致常染色体隐性遗传。目前国内针对NS的诊治仍然缺乏经验，诊断大多依赖患者随年龄增长而逐渐明显的临床特征以及NS相关基因检测。这就意味着在临床工作中可能无法及时发现并作出诊断，无法尽早对NS的疾病进展做出有效干预，以致当患者因各种NS相关并发症就诊时，已经产生了无法逆转的器质性损害。本文中我们对山东第一医科大学附属省立医院收治的1例新生儿Noonan综合征的患者进行回顾性分析并针对相关文献进行复习归纳。旨在为临床工作者提供早期识别诊断的经验，提高临床医生对于NS的认知水平与了解。

Abstract: Noonan syndrome (NS) is a hereditary disease caused by mutations in genes related to the RAS-mitogen-activated protein kinase signalling pathway (RAS-MAPK), which is predominantly inherited in an autosomal dominant manner, with individual mutations leading to autosomal recessive inheritance. At present, there is still a lack of experience in the diagnosis and treatment of NS in China, and most of the diagnosis relies on the clinical features of the patient that become obvious with age and the NS-related gene test. This means that it may not be possible to detect and diagnose NS in time and intervene in the disease progression of NS as early as possible, so that by the time the patient seeks treatment for various NS-related complications, irreversible organic damage has already occurred. A case of neonatal Noonan syndrome admitted to the Provincial Hospital of Shandong First Medical University was retrospectively analysed and the relevant literature was reviewed and summarized. The aim is to provide clinicians with relevant diagnostic experience and improve their knowledge and understanding of NS.