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

Silvia Boeri; Monica Bodria; Rosa Maria Ammendola; Thea Giacomini; Domenico Tortora; Lino Nobili; Michela Malacarne; Andrea Rossi; Enrico Verrina; Giorgio Piaggio; Maria Margherita Mancardi; Mariasavina Severino

doi:10.1007/s00467-024-06289-6

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

Pediatr Nephrol. 2024 Feb 20. doi: 10.1007/s00467-024-06289-6. Online ahead of print.

Authors

Silvia Boeri¹, Monica Bodria², Rosa Maria Ammendola³, Thea Giacomini^{4

5}, Domenico Tortora⁶, Lino Nobili^{1

6}, Michela Malacarne⁷, Andrea Rossi^{4

5

8}, Enrico Verrina², Giorgio Piaggio², Maria Margherita Mancardi⁹, Mariasavina Severino^{4

5}

Affiliations

¹ Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health Department of Neuroscience (DINOGMI), University of Genoa, Genoa, Italy.
² Unit of Nephrology and Kidney Transplant, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
³ Radiology Unit, Azienda Socio-Sanitaria Territoriale Della Brianza, Monza, Italy.
⁴ Department of Mental Health and Addiction, Azienda Sanitaria Locale 3, Genoa, Italy.
⁵ Neuroradiology Unit, IRCCS Giannina Gaslini, Genoa, Italy.
⁶ Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, Largo G Gaslini, 5, 16147, Genova, Italy.
⁷ Human Genetics Laboratory, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
⁸ Department of Health Sciences, University of Genoa, Genoa, Italy.
⁹ Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, Largo G Gaslini, 5, 16147, Genova, Italy. margheritamancardi@gaslini.org.

PMID: 38376554
DOI: 10.1007/s00467-024-06289-6

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.

Keywords: Brain and spinal MRI; Brain and spinal malformations; Congenital anomalies of the kidney and urinary tract (CAKUT); Genetic syndromes; Neurodevelopmental disorders.

Grants and funding

MSALRF DEL68/21/Ministero della Salute