Oto-renal syndromes: disorders of shared developmental gene polymorphisms and overlapping physiology

Abstract

Background: - Although, it has been documented that infants with car malformations arc 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 car malformations and kidney anomalies. In order to explain the intractable link between kidney and car 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 car-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 car 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 car and the kidney and the presence of some shared developmental control gene polymorphisms and structural/transport proteins arc documented in this review. A careful clinical analysis of these pathologies will facilitate better understanding and diagnosis of car-kidney syndromes in affected patients. Furthermore, there is need for continued research especially among the Nigerian population as part of the global data.