METHODS: We reviewed the clinico-radiological and genetic data of 199 out of 1,165 children with CAKUT evaluated from 2006 to 2023 (99 males, mean age at MRI 6.4 years) who underwent brain and/or spine MRI. Patients were grouped according to the type of CAKUT (CAKUT-K involving the kidney and CAKUT-H involving the inferior urinary tract). Group comparisons were performed using χ2 and Fisher exact tests.
RESULTS: Brain/spine malformations were observed in 101/199 subjects (50.7%), 8.6% (101/1165) of our CAKUT population, including midbrain-hindbrain anomalies (40/158, 25.3%), commissural malformations (36/158, 22.7%), malformation of cortical development (23/158, 14.5%), Chiari I anomaly (12/199, 6%), cranio-cervical junction malformations (12/199, 6%), vertebral defects (46/94, 48.9%), caudal regression syndrome (29/94, 30.8%), and other spinal dysraphisms (13/94, 13.8%). Brain/spine malformations were more frequent in the CAKUT-K group (62.4%, p < 0.001). Sixty-two subjects (62/199, 31.2%) had developmental delay/intellectual disability. Neurological examination was abnormal in 40/199 (20.1%). Seizures and/or electroencephalographic anomalies were reported in 28/199 (14%) and behavior problems in 19/199 subjects (9%). Developmental delay/intellectual disability was more frequent in kidney dysplasia (65.2%) and agenesis (40.7%) (p = 0.001).
CONCLUSIONS: We report a relative high frequency of brain/spine malformations and neurodevelopmental disorders in children with CAKUT who underwent MRI examinations in a tertiary referral center, widening the spectrum of anomalies associated with this condition.
方法:我们回顾了2006年至2023年评估的1,165名CAKUT儿童中的199名临床放射学和遗传数据(99名男性,MRI平均年龄6.4岁)接受脑和/或脊柱MRI。根据CAKUT的类型(涉及肾脏的CAKUT-K和涉及下尿路的CAKUT-H)对患者进行分组。使用χ2和Fisher精确检验进行组比较。
结果:在101/199名受试者中观察到脑/脊柱畸形(50.7%),8.6%(101/1165)的CAKUT人口,包括中脑-后脑异常(40/158,25.3%),连带畸形(36/158,22.7%),皮质发育畸形(23/158,14.5%),ChiariI异常(12/199,6%),颅颈交界畸形(12/199,6%),椎体缺损(46/94,48.9%),尾回归综合征(29/94,30.8%),和其他脊柱发育不良(13/94,13.8%)。大脑/脊柱畸形在CAKUT-K组中更为常见(62.4%,p<0.001)。62名受试者(62/199,31.2%)患有发育迟缓/智力障碍。神经系统检查异常40/199(20.1%)。在28/199(14%)中报告了癫痫发作和/或脑电图异常,在19/199受试者中报告了行为问题(9%)。发育迟缓/智力障碍在肾脏发育不良(65.2%)和发育不全(40.7%)中更为常见(p=0.001)。
结论:我们报告了在三级转诊中心接受MRI检查的CAKUT儿童的脑/脊柱畸形和神经发育障碍发生率相对较高,扩大与这种情况相关的异常范围。