{
    "abstract": "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.\nWe 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\u00a0years) 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 \u03c7\nBrain/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\u2009<\u20090.001). 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\u2009=\u20090.001).\nWe 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.",
    "authors": [
        {
            "affiliation": "Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health Department of Neuroscience (DINOGMI), University of Genoa, Genoa, Italy.",
            "firstname": "Silvia",
            "initials": "S",
            "lastname": "Boeri"
        },
        {
            "affiliation": "Unit of Nephrology and Kidney Transplant, IRCCS Istituto Giannina Gaslini, Genoa, Italy.",
            "firstname": "Monica",
            "initials": "M",
            "lastname": "Bodria"
        },
        {
            "affiliation": "Radiology Unit, Azienda Socio-Sanitaria Territoriale Della Brianza, Monza, Italy.",
            "firstname": "Rosa Maria",
            "initials": "RM",
            "lastname": "Ammendola"
        },
        {
            "affiliation": "Department of Mental Health and Addiction, Azienda Sanitaria Locale 3, Genoa, Italy.\nNeuroradiology Unit, IRCCS Giannina Gaslini, Genoa, Italy.",
            "firstname": "Thea",
            "initials": "T",
            "lastname": "Giacomini"
        },
        {
            "affiliation": "Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, Largo G Gaslini, 5, 16147, Genova, Italy.",
            "firstname": "Domenico",
            "initials": "D",
            "lastname": "Tortora"
        },
        {
            "affiliation": "Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health Department of Neuroscience (DINOGMI), University of Genoa, Genoa, Italy.\nChild Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, Largo G Gaslini, 5, 16147, Genova, Italy.",
            "firstname": "Lino",
            "initials": "L",
            "lastname": "Nobili"
        },
        {
            "affiliation": "Human Genetics Laboratory, IRCCS Istituto Giannina Gaslini, Genoa, Italy.",
            "firstname": "Michela",
            "initials": "M",
            "lastname": "Malacarne"
        },
        {
            "affiliation": "Department of Mental Health and Addiction, Azienda Sanitaria Locale 3, Genoa, Italy.\nNeuroradiology Unit, IRCCS Giannina Gaslini, Genoa, Italy.\nDepartment of Health Sciences, University of Genoa, Genoa, Italy.",
            "firstname": "Andrea",
            "initials": "A",
            "lastname": "Rossi"
        },
        {
            "affiliation": "Unit of Nephrology and Kidney Transplant, IRCCS Istituto Giannina Gaslini, Genoa, Italy.",
            "firstname": "Enrico",
            "initials": "E",
            "lastname": "Verrina"
        },
        {
            "affiliation": "Unit of Nephrology and Kidney Transplant, IRCCS Istituto Giannina Gaslini, Genoa, Italy.",
            "firstname": "Giorgio",
            "initials": "G",
            "lastname": "Piaggio"
        },
        {
            "affiliation": "Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, Largo G Gaslini, 5, 16147, Genova, Italy. margheritamancardi@gaslini.org.",
            "firstname": "Maria Margherita",
            "initials": "MM",
            "lastname": "Mancardi"
        },
        {
            "affiliation": "Department of Mental Health and Addiction, Azienda Sanitaria Locale 3, Genoa, Italy.\nNeuroradiology Unit, IRCCS Giannina Gaslini, Genoa, Italy.",
            "firstname": "Mariasavina",
            "initials": "M",
            "lastname": "Severino"
        }
    ],
    "conclusions": null,
    "copyrights": "\u00a9 2024. The Author(s), under exclusive licence to International Pediatric Nephrology Association.",
    "doi": "10.1007/s00467-024-06289-6\n10.1002/bdra.20778\n10.1097/MD.0000000000002659\n10.1007/s00404-023-07165-8\n10.1093/ndt/gfr655\n10.1046/j.1523-1755.2002.00188.x\n10.1007/s00467-007-0479-1\n10.1681/ASN.V1092018\n10.1159/000507700\n10.1007/s00467-010-1629-4\n10.3390/ijms18040796\n10.1007/s00467-021-05145-1\n10.1016/j.ejmg.2014.04.014\n10.1007/s10157-020-01977-7\n10.3389/fped.2023.1157630\n10.1002/uog.1788\n10.1681/ASN.2017121265\n10.1016/j.pcl.2022.07.004\n10.1007/s00234-010-0696-3\n10.1093/brain/awaa174\n10.1007/s00234-014-1431-2\n10.1148/radiology.183.2.1561334\n10.1007/s002340000325\n10.1001/jamaneurol.2021.0306\n10.1007/BF00144002\n10.1136/jmg.16.3.176\n10.1046/j.1469-0705.2000.00065.x\n10.1136/jmedgenet-2015-103554\n10.1038/s41588-018-0281-y\n10.1038/s41581-023-00742-9\n10.1002/pd.209\n10.1007/s00467-007-0446-x\n10.1002/bdra.10077\n10.1002/1097-0223(200102)21:2<129::AID-PD5>3.0.CO;2-J\n10.1002/mrdd.20116\n10.1053/j.ajkd.2015.08.025\n10.1681/ASN.2012050536\n10.1038/s41436-019-0576-0\n10.1016/j.ajhg.2010.10.004",
    "journal": "Pediatric nephrology (Berlin, Germany)",
    "keywords": [
        "Brain and spinal MRI",
        "Brain and spinal malformations",
        "Congenital anomalies of the kidney and urinary tract (CAKUT)",
        "Genetic syndromes",
        "Neurodevelopmental disorders"
    ],
    "methods": null,
    "publication_date": "2024-02-20",
    "pubmed_id": "38376554\n21381187\n26844492\n37535131\n22121240\n17437132\n10477156\n32516788\n20798957\n28398236\n34091754\n24821302\n33025232\n36999085\n15660447\n30143558\n36880926\n20422408\n32779696\n25339235\n1561334\n10952179\n33749724\n8905311\n469895\n10846770\n27084730\n30578417\n37524861\n11746154\n17310358\n14632306\n11241541\n17061289\n26476795\n23291474\n31263215\n21055719",
    "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\u2009<\u20090.001). 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\u2009=\u20090.001).",
    "title": "Brain and spine malformations and neurodevelopmental disorders in a cohort of children with CAKUT.",
    "xml": "<Element 'PubmedArticle' at 0x788504f80a90>"
}