Salerno A, Kohlhase J, Kaplan B S
Department of Pediatrics, Children's Hospital of Philadelphia, PA, USA.
Pediatr Nephrol. 2000 Jan;14(1):25-8. doi: 10.1007/s004670050006.
A 14-year-old African-American boy had chronic renal failure and Townes-Brocks syndrome (TBS). There were no affected family members. Features were imperforate anus, rectoperineal fistula, triphalangeal thumb, bifid thumb, rocker bottom feet, bilateral ear tags, satyr ear, sensorineural hearing loss, hypospadias, bilateral renal hypoplasia, and progressive chronic renal failure. Renal and urological anomalies in TBS include renal hypoplasia, renal dysplasia, unilateral renal agenesis, horseshoe kidney, posterior urethral valves, uretero-vesical reflux, and meatal stenosis. TBS is caused by a dominantly inherited defect in the gene encoding the SALL1 putative transcription factor, a protein possibly required for urological, renal, limb, ear, brain, and liver development. This patient had a novel mutation in this gene. The extent of renal involvement in patients with TBS should be evaluated for optimum treatment and prediction of prognosis.
一名14岁的非裔美国男孩患有慢性肾衰竭和汤姆斯-布罗克斯综合征（TBS）。家族中无患病成员。其特征包括肛门闭锁、直肠会阴瘘、三节指骨拇指、分叉拇指、摇椅底足、双侧附耳、羊蹄耳、感音神经性听力损失、尿道下裂、双侧肾发育不全以及进行性慢性肾衰竭。TBS中的肾脏和泌尿系统异常包括肾发育不全、肾发育异常、单侧肾缺如、马蹄肾、后尿道瓣膜、输尿管膀胱反流以及尿道口狭窄。TBS由编码SALL1假定转录因子的基因中的显性遗传缺陷引起，该蛋白可能是泌尿系统、肾脏、肢体、耳朵、大脑和肝脏发育所必需的。该患者在这个基因中有一个新的突变。对于TBS患者，应评估肾脏受累程度，以进行最佳治疗和预后预测。
