Dépistage des Signes Cliniques et Biologiques de la Glycogénose de Type 1 chez les Enfants Atteints de Troubles Neurocomportementaux à Kinshasa

Laurent Mangyanda Kinkembo, NC Célestin Nsibu, C Bifu, R Matondo, S Mbambi, C Mbuila

Abstract


RÉSUMÉ
Introduction. La glycogénose de type 1 (GSD1) est une maladie des hypoglycémies récurrentes par déficit de Glucose-6-Phosphatase (G6Pase. Elle entraine un dysfonctionnement du système nerveux central (SNC) et des troubles neurocomportementaux. La triade, hypoglycémie de jeûne court -hyperlactacidémie – hépatomégalie, fait le diagnostic avant la détection d’anomalie du gène de G6Pase. Les polymères de glucose contenus dans le maïs (Maïzena ®) préviennent l’hypoglycémie et les troubles neurocognitifs. L’objectif de notre étude était de détecter les caractéristiques clinicobiologiques de la GSD1. Matériels et méthodes. Nous avons mené une étude transversale multicentrique d’avril 2016 à mai 2018 dans les institutions de réadaptation neurocomportementale de Kinshasa. Étaient inclus les filles et garçons de 4 à 19 ans sans antécédents de traumatisme crânien et / ou de méningite ou d'encéphalite. Le test statistique de Wilcoxon-Mann Whitney a été utilisé grâce au logiciel Minitab 18 avec un seuil p inférieur à 0,05. Résultats. Cent vingt-et-un enfants étaient éligibles, dont 74 garçons et 47 filles (sex-ratio = 1,55). Leur âge moyen était de 9,36 ans ± 3,22 (4-19 ans) ; le premier quartile à 7 et le troisième quartile à 11,8.ans. Les signes de GSD1 étaient corrélés avec les atteintes neurologiques de la manière suivante : l’hyperlactacidémie était corrélée au retard cognitif, aux troubles de la mémoire, à l’hépatomégalie, aux repas rapprochés ; l’hypoglycémie était corrélée au retard cognitif, au trouble de mémoire, à l’hépatomégalie et aux repas rapprochés. Conclusion. La triade clinicobiologique de la GSD1 1 a été retrouvée chez les enfants atteints de troubles neurocomportementaux, ce qui suggère la participation de GSD1.
ABSTRACT
Introduction. Type 1 glycogenosis, disease of recurrent hypoglycemia is due to Glucose-6-Phosphatase (G6Pase) deficiency. It leads to central nervous system (CNS) dysfunction and neurobehavioral disorders. The triad, short-fasting hypoglycemia -hyperlactacidemia – hepatomegaly is a clue to the diagnosis before detection of an abnormality in the G6Pase gene. The glucose polymers contained in corn (Maïzena ®) prevent hypoglycemia and neurocognitive disorders. The aim of our study was to detect the clinicobiological features of GSD1. Materials and methods. After authorization of the ethics committee, a multicenter cross-sectional study was carried out from April 2016 to May 2018 in the neurobehavioral rehabilitation institutions of Kinshasa. We included girls and boys aged 4 to 19 years, without a history of head trauma and / or meningitis or encephalitis. The Wilcoxon-Mann Whitney statistical test was used using Minitab 18 software with a p-threshold less than 0.05. Results. One hundred and twenty-one children were studied, 74 boys and 47 girls (sex ratio 1.55). The mean age was 9.36 years ± 3.22 (4-19 years); the first quartile at 7 and the third quartile at 11.8. years. Signs of GSD1 were correlated with neurological damage as follows: hyperlactacidemia correlated with cognitive delay, memory impairment, hepatomegaly, close meals; hypoglycemia was correlated with cognitive delay, memory impairment, hepatomegaly, and close meals. Conclusion. The clinicobiological triad of GSD1 1 is found in children with neurobehavioral disorders in Kinshasa, which suggests the participation of GSD1.


Keywords


Phénotype de Glycogénose de type 1, troubles neurocomportementaux ; enfants, Kinshasa

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