J Pediatr Health Care. 2019 Nov-Dec;33(6):694-701. doi: 10.1016/j.pedhc.2019.06.001. Epub 2019 Jul 31.
Waardenburg syndrome (WS) is a rare genetic disorder that is further divided into four subtypes with distinguishing clinical manifestations, categorized by phenotypic variations based on activation or deactivation of six specific gene types. The criteria for clinical diagnosis are established based on these phenotypic variants. While key clinical features may cause suspicion of WS, genetic testing confirms the diagnosis. Pigmentary defects are one of the hallmark features of WS while some individuals may exhibit sensorineural hearing loss, which can be progressive. Audiological treatment is essential to mitigate hearing loss and to minimize speech and language deficits as well as behavior and socioemotional development. Associated complications include musculoskeletal abnormalities and Hirschsprung disease. This article aims to discuss the role of the pediatric nurse practitioner in the early identification, diagnosis, treatment, and long-term management of affected children in the primary care setting.
瓦登伯革综合征（WS）是一种罕见的遗传性疾病，进一步分为四个亚型，具有不同的临床表现，根据六种特定基因类型的激活或失活来分类。临床诊断标准是基于这些表型变异建立的。虽然关键的临床特征可能会引起对 WS 的怀疑，但基因测试可以确认诊断。色素缺陷是 WS 的一个标志性特征，而一些人可能会出现感觉神经性听力损失，这种损失可能是进行性的。听力学治疗对于减轻听力损失、最小化言语和语言缺陷以及行为和社会情感发展至关重要。相关并发症包括肌肉骨骼异常和先天性巨结肠病。本文旨在讨论儿科执业护士在初级保健环境中对受影响儿童的早期识别、诊断、治疗和长期管理中的作用。
