Brain and spine malformations and neurodevelopmental disorders in a cohort of children with CAKUT. in Pediatric nephrology (Berlin, Germany) / Pediatr Nephrol. 2024 Jul;39(7):2115-2129. doi: 10.1007/s00467-024-06289-6. Epub 2024 Feb 20.

2024
ASL Cuneo 1
ASL Cuneo 2

Tipo pubblicazione

Journal Article

Autori/Collaboratori (12)Vedi tutti...

Verrina E
Human Genetics Laboratory, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Piaggio G
Department of Mental Health and Addiction, Azienda Sanitaria Locale 3, Genoa, Italy.
Rossi A
Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, Largo G Gaslini, 5, 16147, Genova, Italy.

et alii...

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 ?(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?