Division of Pediatric Nephrology, Department of Pediatrics, Children's Hospital of Philadelphia, 9th Floor Beurger Building, 3405 Civic Center Boulevard, Philadelphia, PA, 19104, USA.
Division of Pediatric Nephrology, Department of Pediatrics, Children's Hospital of Philadelphia and University of Pennsylvania, 9th Floor Beurger Building, 3405 Civic Center Boulevard, Philadelphia, PA, 19104, USA.
Curr Hypertens Rep. 2021 Mar 29;23(4):18. doi: 10.1007/s11906-021-01136-7.
Turner syndrome (TS), neurofibromatosis type 1(NF1), and William Syndrome (WS) are 3 genetic conditions that are all associated with a substantial increase in risk of hypertension. In this review, we focus on factors leading to hypertension and on clinical manifestations and management of hypertension in children and adolescents with these genetic conditions RECENT FINDINGS: In most instances, hypertension is secondary. There is a high prevalence of masked hypertension in TS; however, the extent to which control of the BP helps reduce the risk of aortic dissection/aneurysm in TS is not yet fully elucidated. Vasculopathies are the least emphasized but most important manifestation of NF1. Of note, routine screening for pheochromocytoma in NFI is not recommended as it is not cost-effective. Cardiovascular complications are the major cause of death in patients with WBS. ABPM identifies patients without overt aortic or renovascular narrowing. Antihypertensive agents such as ARBs that have direct vascular wall effects and agents that inhibit oxidative stress (minoxidil) should be considered, even in those who do not exhibit overt hypertension. Elevated blood pressure in children and adolescence manifests early with end-organ changes and when left untreated, increases risk for premature onset of cardiovascular disease. Vigilant monitoring of the blood pressure is recommended. Accurate early diagnosis and management of hypertension will delay or prevent target organ damage and ensure a healthier transition to adulthood among children afflicted with these conditions.
特纳综合征（TS）、神经纤维瘤病 1 型（NF1）和威廉姆斯综合征（WS）是 3 种与高血压风险显著增加相关的遗传疾病。在这篇综述中，我们重点关注导致高血压的因素，以及这些遗传疾病患儿和青少年高血压的临床表现和管理。
在大多数情况下，高血压是继发性的。TS 中存在较高的隐匿性高血压患病率；然而，控制血压有助于降低 TS 中主动脉夹层/动脉瘤风险的程度尚未完全阐明。血管病变是 NF1 最被忽视但最重要的表现。值得注意的是，不推荐常规筛查 NF1 中的嗜铬细胞瘤，因为这不具有成本效益。心血管并发症是 WBS 患者死亡的主要原因。ABPM 可识别无明显主动脉或肾血管狭窄的患者。应考虑使用具有直接血管壁作用的降压药（如 ARB）和抑制氧化应激的药物（米诺地尔），即使在那些没有明显高血压的患者中也是如此。儿童和青少年的血压升高早期即出现终末器官改变，如果不治疗，会增加心血管疾病早发的风险。建议对血压进行严密监测。准确的早期诊断和高血压的管理将延迟或预防靶器官损伤，并确保受这些疾病影响的儿童更健康地过渡到成年期。
