Robinow综合征是MeinhardRobinow在1969年描述的一种罕见的先天性综合征。遗传背景是异质性的-DVLI1,DVLI3,WNT5A基因的突变(轻度,常染色体显性遗传)或ROR2基因(严重,常染色体隐性遗传)是该综合征的原因。该综合征的特征是面部畸形,骨骼缺损,身材矮小,心血管和泌尿系统异常。
方法:我们报告了两名4岁男性Robinow综合征患者的肾脏和泌尿系统问题。第一位患者的马蹄形肾脏主要位于右侧,右侧膀胱输尿管反流II级,排尿功能失调,掩埋阴茎,和睾丸回缩。第二名患者有复发性尿路感染;诊断结果包括左肾重复,II级左膀胱输尿管反流,后尿道憩室大,排尿功能失调,掩埋阴茎,腺性尿道下裂,和双侧隐睾。
结论:Robinow综合征患者需要多学科护理,包括肾脏病-泌尿外科护理.Robinow综合征患儿的肾脏科和泌尿科表现多种多样,尿路缺陷可能不典型且复杂。
Robinow syndrome is a rare congenital syndrome described in 1969 by Meinhard Robinow. The genetic background is heterogeneous - mutations of DVLI1, DVLI3, WNT5A genes (mild, autosomal dominant inheritance) or ROR2 gene (severe, autosomal recessive inheritance) are responsible for the syndrome. The syndrome is characterized by facial dysmorphism, skeletal defects, short stature, cardiovascular and urinary system abnormalities.
METHODS: We report nephrological and urological problems in two 4-year-old male patients with Robinow syndrome. The first patient has a horseshoe kidney located mainly on the right side, right vesicoureteral reflux grade II, dysfunctional voiding, buried penis, and retractile testicles. The second patient has recurrent urinary tract infections; diagnostic findings include left kidney duplication, grade II left vesicoureteral reflux, large posterior urethral diverticulum, dysfunctional voiding, buried penis, glanular hypospadias, and bilateral cryptorchidism.
CONCLUSIONS: Patients with Robinow syndrome require multidisciplinary care, including nephrology-urology care. Nephrological and urological manifestations in children with Robinow syndrome are diverse, and urinary tract defects may be atypical and complex.