Abstract：
BACKGROUND: Congenital anomalies of the kidney and urinary tract (CAKUT) represent 20-30% of all birth defects and are often associated with extra-renal malformations. We investigated the frequency of brain/spine malformations and neurological features in children with CAKUT.
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.
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.
摘要：
背景：先天性肾脏和泌尿道异常（CAKUT）占所有出生缺陷的20-30％，并且通常与肾外畸形有关。我们调查了CAKUT儿童的脑/脊柱畸形和神经系统特征的频率。
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。
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。
