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

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 th...

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Publicado en:Pediatric Nephrology Vol. 39; no. 7; pp. 2115 - 2130
Autores principales: 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
Formato: diagnostic images research tables/charts Journal Article
Publicado: Springer Nature Jul2024
Acceso en línea:Ver este registro en EBSCOhost
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      dt: Jul2024
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      pub: Springer Nature
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        10.1007/s00467-024-06289-6
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        atl: Brain and spine malformations and neurodevelopmental disorders in a cohort of children with CAKUT.
      aug:
        au:
          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
        affil: https://ror.org/0107c5v14 Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health Department of Neuroscience (DINOGMI), University of Genoa, Genoa, Italy
      sug:
        subj:
          Nervous System Abnormalities Risk Factors
          Brain Abnormalities
          Mental Disorders Diagnosed in Childhood Risk Factors
          Urogenital Abnormalities Complications
          Kidney Abnormalities
          Urinary Tract Abnormalities
          Risk Assessment
          Human
          Male
          Female
          Record Review
          Child
          Descriptive Statistics
          Chi Square Test
          Fisher's Exact Test
          Malformations of Cortical Development Risk Factors
          Arnold-Chiari Malformation Risk Factors
          Heart Defects, Congenital Risk Factors
          Neural Tube Defects Risk Factors
          Caudal Regression Syndrome Risk Factors
          Developmental Disabilities Risk Factors
          Intellectual Disability Risk Factors
          Neurologic Examination
          Seizures Risk Factors
          Behavioral and Mental Disorders Risk Factors
          Magnetic Resonance Imaging
          Tertiary Health Care
          Funding Source
          Child: 6-12 years
          Male
          Female
      ab: 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.
      pubtype: Academic Journal
      doctype:
        diagnostic images
        research
        tables/charts
        Journal Article
      ougenre: Article
    language: English
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