Bertamino Marta, Riccardi Francesca, Banov Laura, Svahn Johanna, Molinari Angelo Claudio
Thrombosis and Hemostasis Unit, Regional Reference Center for Hemorrhagic Diseases, Giannina Gaslini Children's Hospital, 16147 Genova, Italy.
Hematology Unit, Giannina Gaslini Children's Hospital, 16147 Genova, Italy.
J Clin Med. 2017 May 19;6(5):54. doi: 10.3390/jcm6050054.
Hemophilia is the most common of the severe bleeding disorders and if not properly managed since early infancy can lead to chronic disease and lifelong disabilities. However, it enjoys the most efficacious and safe treatment among the most prevalent monogenic disorders. Hemophilia should be considered in the neonatal period in the case of unusual bleeding or in the case of positive family history. Later, hemophilia should be suspected mainly in males because of abnormal bruising/bleeding or unusual bleeding following invasive procedures-for example, tonsillectomy or circumcision. Prophylactic treatment that is started early with clotting-factor concentrates has been shown to prevent hemophilic arthropathy and is, therefore, the gold standard of care for hemophilia A and B in most countries with adequate resources. Central venous access catheters and arterovenous fistulas play an important role in the management of hemophilia children requiring repeated and/or urgent administration of coagulation factor concentrates. During childhood and adolescence, personalized treatment strategies that suit the patient and his lifestyle are essential to ensure optimal outcomes. Physical activity is important and can contribute to better coordination, endurance, flexibility and strength. The present article focuses also on questions frequently posed to pediatric hematologists like vaccinations, day-care/school access and dental care.
血友病是最常见的严重出血性疾病,如果从婴儿早期就没有得到妥善管理,可能会导致慢性病和终身残疾。然而,在最常见的单基因疾病中,它拥有最有效和安全的治疗方法。在新生儿期,如果出现异常出血或有阳性家族史,就应考虑血友病。之后,主要应怀疑男性患有血友病,因为他们有异常瘀伤/出血或在侵入性手术后出现异常出血,如扁桃体切除术或包皮环切术后。早期开始使用凝血因子浓缩物进行预防性治疗已被证明可预防血友病性关节病,因此在大多数资源充足的国家,这是甲型和乙型血友病治疗的金标准。中心静脉通路导管和动静脉瘘在需要反复和/或紧急给予凝血因子浓缩物的血友病儿童的管理中起着重要作用。在儿童期和青春期,适合患者及其生活方式的个性化治疗策略对于确保最佳治疗效果至关重要。体育活动很重要,有助于提高协调性、耐力、灵活性和力量。本文还重点讨论了儿科血液科医生经常遇到的问题,如疫苗接种、日托/上学和牙科护理。