Mavinkurve Meenal, O'Gorman Clodagh S
Department of Paediatrics, Clinical School, International Medical University, Seremban, Malaysia.
Department of Paediatrics, Graduate Entry Medical School, University of Limerick, Limerick, Ireland.
Front Endocrinol (Lausanne). 2017 Jul 4;8:142. doi: 10.3389/fendo.2017.00142. eCollection 2017.
Turner syndrome (TS) is a chromosomal disorder that affects 1:2,000 females. It results from either the complete or partial loss of the X chromosome as well as other aberrations. Clinical features of TS include short stature, delayed puberty, and congenital cardiac malformations. TS children also have an increased prevalence of cardiometabolic risk factors, which predisposes them to complications like coronary artery disease, cerebrovascular-related deaths, and aortic dissection. Early cardiac imaging, such as echocardiography and cardiac magnetic resonance imaging, are recommended to detect underlying aortic pathology. However, these modalities are limited by cost, accessibility, and are operator dependent. In view of these shortcomings, alternative methods, like vascular biomarkers, are currently being explored. There are only a few studies that have examined the relationship between B-type natriuretic peptide (BNP), N-terminal pro BNP (NT pro-BNP), and osteoprotegerin (OPG) and aortic disease in TS, and thus the data are only in proof-of-concept stages. Further meticulous longitudinal studies are required before BNP, NT pro-BNP, and OPG are used as vascular biomarkers for the detection of aortic disease in childhood and adolescent TS.
特纳综合征(TS)是一种染色体疾病,发病率为1:2000女性。它是由X染色体的完全或部分缺失以及其他畸变引起的。TS的临床特征包括身材矮小、青春期延迟和先天性心脏畸形。TS患儿发生心脏代谢危险因素的患病率也较高,这使他们易患冠状动脉疾病、脑血管相关死亡和主动脉夹层等并发症。建议进行早期心脏成像检查,如超声心动图和心脏磁共振成像,以检测潜在的主动脉病变。然而,这些检查方式受到成本、可及性的限制,且依赖操作人员。鉴于这些缺点,目前正在探索替代方法,如血管生物标志物。仅有少数研究探讨了B型利钠肽(BNP)、N末端前脑钠肽(NT pro-BNP)和骨保护素(OPG)与TS患者主动脉疾病之间的关系,因此相关数据仅处于概念验证阶段。在将BNP、NT pro-BNP和OPG用作检测儿童和青少年TS患者主动脉疾病的血管生物标志物之前,还需要进行更细致的纵向研究。