Brain and spine malformations and neurodevelopmental disorders in a cohort of children with CAKUT

• Published in: Pediatric nephrology (Berlin, West) Vol. 39; no. 7; pp. 2115 - 2129
• Main Authors: Boeri, Silvia, Bodria, Monica, Ammendola, Rosa Maria, Giacomini, Thea, Tortora, Domenico, Nobili, Lino, Malacarne, Michela, Rossi, Andrea, Verrina, Enrico, Piaggio, Giorgio, Mancardi, Maria Margherita, Severino, Mariasavina
• Format: Journal Article
• Language: English
• Published: Berlin/Heidelberg Springer Berlin Heidelberg 01.07.2024; Springer; Springer Nature B.V
• Subjects: Abnormalities; Adolescent; Brain - abnormalities; Brain - diagnostic imaging; Brain - pathology; Child; Child development; Child, Preschool; Children; Comorbidity; Congenital defects; EEG; Female; Genetic aspects; Genitourinary organs; Hindbrain; Humans; Infant; Intellectual disabilities; Kidneys; Magnetic Resonance Imaging; Male; Medicine; Medicine & Public Health; Mesencephalon; Nephrology; Nervous system; Neurodevelopmental disorders; Neurodevelopmental Disorders - diagnosis; Neurodevelopmental Disorders - epidemiology; Neurodevelopmental Disorders - etiology; Original Article; Pediatric research; Pediatrics; Retrospective Studies; Seizures; Spine - abnormalities; Spine - diagnostic imaging; Statistics; Urinary tract; Urogenital Abnormalities - complications; Urogenital Abnormalities - diagnosis; Urogenital Abnormalities - epidemiology; Urogenital system; Urology; Vertebrae; Vesico-Ureteral Reflux; Italy; Congenital anomalies of the kidney and urinary tract (CAKUT); Brain and spinal MRI; Neurodevelopmental disorders; Genetic syndromes; Brain and spinal malformations
• ISSN: 0931-041X; 1432-198X; 1432-198X
• DOI: 10.1007/s00467-024-06289-6

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 χ 2 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. Graphical Abstract A higher resolution version of the Graphical abstract is available as Supplementary information