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针对一名患有甲型血友病和1型糖尿病儿童的个性化预防措施

Personalised Prophylaxis in a Child with Haemophilia A and Type 1 Diabetes.

作者信息

Cruz Maria Sol, Santillan Josefina, Lesser Julieta, Ortiz Juan Pablo, Forzani Laura

机构信息

Hemophilia Foundation of Salta, Salta 4400, Argentina.

出版信息

Clin Pract. 2021 May 8;11(2):287-292. doi: 10.3390/clinpract11020041.

Abstract

Poor management of either type 1 diabetes or haemophilia A can lead to complications such as organ dysfunction and haemarthropathy. Here, we describe the case of an 8-year-old boy diagnosed with severe haemophilia A shortly after birth. At 2 years old, he was also diagnosed with type 1 diabetes. After six years, the haemophilia treatment was changed from a plasma-derived factor VIII (FVIII) concentrate (octanate, Octapharma, Lachen, Switzerland) to Nuwiq (simocotocog alfa, Octapharma, Lachen, Switzerland), a recombinant FVIII (rFVIII) product from a human cell line, which allowed for a personalised treatment schedule that supported good adherence. The dosing regimen could be reduced to two weekly rFVIII infusions. The patient has experienced no spontaneous bleeds since switching to rFVIII and shows no signs of joint damage after over seven years of FVIII prophylaxis. rFVIII was well tolerated, with no treatment-related adverse events observed. This case illustrates the importance of treatment personalisation for young patients and their families managing concomitant diseases.

摘要

1型糖尿病或甲型血友病管理不善都可能导致器官功能障碍和关节病等并发症。在此,我们描述一名8岁男孩的病例,他在出生后不久被诊断为重度甲型血友病。2岁时,他又被诊断出患有1型糖尿病。6年后,血友病治疗从血浆源性凝血因子VIII(FVIII)浓缩物(八因子,奥克太法玛公司,瑞士拉肯)改为Nuwiq(西莫考托考格阿尔法,奥克太法玛公司,瑞士拉肯),一种源自人类细胞系的重组FVIII(rFVIII)产品,这使得个性化治疗方案成为可能,有助于良好的依从性。给药方案可减至每两周输注一次rFVIII。自改用rFVIII以来,患者未发生自发性出血,在接受FVIII预防治疗七年多后未出现关节损伤迹象。rFVIII耐受性良好,未观察到与治疗相关的不良事件。该病例说明了治疗个性化对管理合并症的年轻患者及其家庭的重要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f9f5/8161436/9d12aa3f391d/clinpract-11-00041-g001.jpg

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