Massarano A A, Wood A, Tait R C, Stevens R, Super M
Department of Clinical Genetics, Royal Manchester Children's Hospital, UK.
Acta Paediatr. 1996 Oct;85(10):1181-5. doi: 10.1111/j.1651-2227.1996.tb18225.x.
The study aims were to review the clinical features of a group of patients with Noonan syndrome and to further elucidate their bleeding tendency. Eighteen patients (12M, 6F) aged 2.6-13.3 years underwent a clinical assessment, a questionnaire of their bleeding tendency and laboratory coagulation studies. Nine had cyanotic spells or breathing difficulties after birth; 11 had poor feeding or weight gain. Increased bruising or bleeding was reported in 12 (67%), four of whom had bleeding from the oral cavity. Excessive bleeding was not reported from operative procedures in other sites. Partial thromboplastin time was prolonged in 10 (56%) associated with low levels of clotting factors, particularly XI and XII. Bleeding times were normal; one had marginal thrombocytopenia. Coagulation results did not correlate with bruising history and may not predict bleeding risk. Care is required when Noonan syndrome patients undergo surgery, particularly of the oropharynx, with immediate availability of suitable blood products.
该研究的目的是回顾一组努南综合征患者的临床特征，并进一步阐明他们的出血倾向。18名年龄在2.6至13.3岁之间的患者（12名男性，6名女性）接受了临床评估、关于其出血倾向的问卷调查以及实验室凝血研究。9名患者出生后出现青紫发作或呼吸困难；11名患者存在喂养困难或体重增加。12名患者（67%）报告有瘀伤或出血增加，其中4名患者有口腔出血。其他部位的手术未报告有过度出血情况。10名患者（56%）的部分凝血活酶时间延长，伴有凝血因子水平降低，尤其是因子XI和因子XII。出血时间正常；1名患者有边缘性血小板减少。凝血结果与瘀伤史无关，可能无法预测出血风险。努南综合征患者接受手术时，尤其是口咽部手术时，需要格外小心，并应立即备有合适的血液制品。
