Duffy Kelly A, Trout Kelly L, Gunckle Jennifer M, Krantz Shari McCullen, Morris John, Kalish Jennifer M
Division of Human Genetics and Center for Childhood Cancer Research, Children's Hospital of Philadelphia, Philadelphia, PA, United States.
International WAGR Syndrome Association, Montgomery Village, MD, United States.
Front Pediatr. 2021 Dec 14;9:733018. doi: 10.3389/fped.2021.733018. eCollection 2021.
WAGR syndrome is a rare genetic disorder characterized by Wilms tumor, Aniridia, Genitourinary anomalies, and Range of developmental delays. In addition to the classic features, patients affected by WAGR syndrome can develop obesity and kidney failure, and a wide variety of non-classical manifestations have also been described. This suggests that a broader phenotypic spectrum beyond the classic syndrome exists and here we demonstrate that spectrum using data from the WAGR Syndrome Patient Registry. In the present study, we collected information from 91 individuals enrolled in the registry to explore self-reported health issues in this patient population. A wide variety of common clinical issues not classically associated with the disorder were found, prompting the redefinition from WAGR syndrome to WAGR spectrum disorder to incorporate the phenotypic variations that occur. A comprehensive care management approach is needed to address the wide range of clinical issues and we propose a care model for patients affected by WAGR spectrum disorder. Further research is needed to solidify the breath of the phenotype and confirm the observations in this study to advance individualized patient care in this population.
WAGR综合征是一种罕见的遗传性疾病，其特征为肾母细胞瘤、无虹膜、泌尿生殖系统异常以及一系列发育迟缓。除了这些典型特征外，患有WAGR综合征的患者还可能出现肥胖和肾衰竭，并且还描述了多种非典型表现。这表明存在超出经典综合征的更广泛的表型谱，在此我们使用WAGR综合征患者登记处的数据展示了该谱。在本研究中，我们从登记处登记的91名个体中收集信息，以探索该患者群体自我报告的健康问题。发现了多种通常与该疾病无经典关联的常见临床问题，促使将其从WAGR综合征重新定义为WAGR谱障碍，以纳入所出现的表型变异。需要一种全面的护理管理方法来解决广泛的临床问题，我们为受WAGR谱障碍影响的患者提出了一种护理模式。需要进一步研究以巩固表型范围并确认本研究中的观察结果，从而推进该人群的个体化患者护理。
