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- Title
Brain and spine malformations and neurodevelopmental disorders in a cohort of children with CAKUT.
- 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
- 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.
- Subjects
BRAIN abnormalities; URINARY organ abnormalities; KIDNEY abnormalities; RISK assessment; CONGENITAL heart disease; NEUROLOGIC examination; CHILD psychopathology; CEREBRAL cortex abnormalities; RESEARCH funding; FISHER exact test; NEURAL development; DESCRIPTIVE statistics; CHI-squared test; MAGNETIC resonance imaging; TERTIARY care; ARNOLD-Chiari deformity; CAUDAL regression syndrome; DEVELOPMENTAL disabilities; INTELLECTUAL disabilities; GENITOURINARY organ abnormalities; MEDICAL records; ACQUISITION of data; SEIZURES (Medicine); NERVOUS system abnormalities; NEURAL tube defects; DISEASE risk factors; DISEASE complications
- Publication
Pediatric Nephrology, 2024, Vol 39, Issue 7, p2115
- ISSN
0931-041X
- Publication type
Article
- DOI
10.1007/s00467-024-06289-6