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Background: – Although, it has been documented that infants with ear malformations are among the highest-risk cohorts for renal malformations of any studied population with congenital birth defects, however report from meta-analyses have showed an insignificant relationship between minor ear malformations and kidney anomalies. In order to explain the intractable link between kidney and ear syndromes, we discussed the molecular regulation of development of both organs. In addition, the role of shared developmental control gene polymorphisms and dysfunction of shared transport or structural proteins in the ear-kidney syndrome were reviewed.
Methodology and review criteria: – A narrative review of ear and kidney syndrome. Pubmed Medline and Online Library search was conducted for literature/studies in English from their conception until September 2016 (without any date restrictions) using the relevant search words.
Results: – An overview on the development of ear and kidney and their molecular regulation, indicated that ear and kidney develop from primordial cells that arise at different time and grow at dissimilar rate, and the development of both organs is synergistically regulated by PAX-SIX-EYA regulatory cascade.
Conclusion: The molecular regulation of development of the ear and the kidney and the presence of some shared developmental control gene polymorphisms and structural/transport proteins are documented in this review. A careful clinical analysis of these pathologies will facilitate better understanding and diagnosis of ear-kidney syndromes in affected patients. Furthermore, there is need for continued research especially among the Nigerian population as part of the global data.
Keywords: Ear-kidney syndromes, Hearing impairment, Renal dysplasia, Genetic disorders, Nephrotoxicity and Ototoxicity
Résumé
Contexte: - Bien qu’il ait été documenté que les nourrissons présentant des malformations auriculaires sont parmi les cohortes les plus à risque pour les malformations rénales de toute population étudiée présentant des anomalies congénitales, cependant les méta-analyses ont montré une relation insignifiante entre les malformations mineures de l’oreille et les anomalies durein. Afin d’expliquer le lien insoluble entre les syndromes du rein et de l’oreille, nous avons discuté de la régulation moléculaire du développement des deux organes. En outre, on a passé en revue un certain nombre de polymorphismes du gène de contrôle du développement et du dysfonctionnement du transport partagé ou des protéines structurales dans le syndrome de l’oreille et du rein.
Méthodologie et critères d’examen: - Examen narratif du syndrome de l’oreille et du rein. PubMed, Medline et la recherche en ligne de bibliothèque a été menée pour la littérature / les études en anglais de leur conception jusqu’à septembre 2016 (sans aucune restriction de date) en utilisant les mots recherchés pertinents.
Résultats: - Fournir une vue d’ensemble sur le développement des oreilles et des reins et leur régulation moléculaire, indiquant que l’oreille et le rein se développent à partir de cellules primordiales qui apparaissent à différents moments et croissent à des taux différents, et le développement des deux organes est de manière synergique régulé par PAX- SIX-EYA cascade réglementaire.
Conclusion: - La régulation moléculaire du développement de l’oreille et du rein et la présence de certains polymorphismes du gène du développement partagés et des protéines structurelles / de transport sont documentées dans cette revue. Une analyse clinique minutieuse de ces pathologies facilitera une meilleure compréhension et un meilleur diagnostic des syndromes auriculo-rénal chez les patients atteints. En outre, il est nécessaire de poursuivre les recherches, en particulier auprès de la population nigériane, dans le cadre des données mondiales.
Mots-clés: Syndromes auriculo-rénal, Troubles auditifs, Dysplasie rénale, Troubles génétiques, Néphrotoxicité et Ototoxicité.
Correspondence: Dr. Muzamil O. Hassan, Department of Medicine, Ladoke Akintola University of Technology Teaching Hospital, Osogbo, Osun State. Nigeria. Email muzlamide@yahoo.com
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