Naval Medical Center San Diego, CA, USA.
Pediatr Blood Cancer. 2012 Feb;58(2):167-72. doi: 10.1002/pbc.23358. Epub 2011 Oct 19.
Noonan Syndrome (NS) is a common genetic disease with multiple organ defects including bleeding disorders, which was last reviewed in 1997. Since then significant information has been acquired regarding bleeding problems in NS, specifically on the underlying genetics. Associations between mutated genes and bleeding disorders are reviewed along with prevalence and underlying etiologies. Between 50-89% of NS patients will have a bleeding disorder and since a significant number will require surgery it is important to identify which ones are at risk prior to their procedure. Recommendations regarding screening for bleeding disorders and their treatment are discussed.
努南综合征（NS）是一种常见的遗传疾病，伴有多种器官缺陷，包括出血性疾病，上次回顾是在 1997 年。此后，关于 NS 中的出血问题，特别是在潜在遗传学方面，已经获得了大量信息。本文回顾了基因突变与出血性疾病之间的关联，以及它们的患病率和潜在病因。在 50-89%的 NS 患者中会出现出血性疾病，由于相当数量的患者需要手术，因此在手术前确定哪些患者有出血风险非常重要。本文讨论了关于出血性疾病筛查及其治疗的建议。
