Division of Urology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Am J Med Genet A. 2019 Mar;179(3):381-385. doi: 10.1002/ajmg.a.61020. Epub 2018 Dec 24.
The 22q11.2 deletion syndrome (22q11.2DS) involves multiple organ systems with variable phenotypic expression. Genitourinary tract abnormalities have been noted to be present in up to 30-40% of patients. At our institution, an internationally recognized, comprehensive, and multidisciplinary 22q11.2DS care center has been providing care to these children. We sought to report on the incidence of genitourinary tract anomalies in this large cohort and, therefore, retrospectively reviewed all patients who underwent a complete evaluation from 1992 to March 2017. We identified all children with any genital or urinary tract anomaly. For all children with a diagnosis of hydronephrosis, the underlying etiology was determined, when possible. Overall, 1,073 of 1,267 children with 22q11.2DS underwent renal evaluations at our institution. Hundered Sixty-Two (15.1%) children had structural abnormalities of their kidneys/urinary tracts. The majority of children with hydronephrosis (63%) had isolated upper tract dilation without any additional diagnoses. Boys were significantly more likely to be diagnosed with a genital abnormality than girls (7.7 vs. 0.5%, p < 0.001). Of the 649 boys in the entire cohort, 24 (3.7%) had cryptorchidism and 24 (3.7%) had hypospadias, which was noted to be mild in all except one boy. Overall, findings of hydronephrosis, unilateral renal agenesis, and multicystic dysplastic kidney occur at higher rates than expected in the general population. Given these findings, in addition to routine physical examination, we believe that all patients with 22q11.2DS warrant screening RBUS at time of diagnosis.
22q11.2 缺失综合征（22q11.2DS）涉及多个器官系统，表现出不同的表型。已有报道称，泌尿生殖系统异常在多达 30-40%的患者中存在。在我们机构，一个国际认可的、全面的、多学科的 22q11.2DS 护理中心一直为这些儿童提供护理。我们旨在报告该大型队列中泌尿生殖系统异常的发生率，因此回顾性审查了所有 1992 年至 2017 年 3 月期间接受全面评估的患者。我们确定了所有有任何生殖器或泌尿道异常的儿童。对于所有诊断为肾积水的儿童，尽可能确定其潜在病因。总的来说，在我们机构，1267 名 22q11.2DS 患儿中有 1073 名接受了肾脏评估。62 名（15.1%）儿童的肾脏/泌尿道存在结构异常。大多数患有肾积水的儿童（63%）仅存在上尿路扩张，没有任何其他诊断。男孩被诊断为生殖器异常的可能性明显高于女孩（7.7%比 0.5%，p<0.001）。在整个队列的 649 名男孩中，24 名（3.7%）患有隐睾症，24 名（3.7%）患有尿道下裂，除一名男孩外，所有男孩的尿道下裂均为轻度。总的来说，肾积水、单侧肾发育不全和多囊性发育不良肾的发现率高于一般人群。考虑到这些发现，除了常规体格检查外，我们认为所有 22q11.2DS 患者都应在诊断时进行 RBUS 筛查。
