Abstract
BackgroundEnamel renal syndrome (ERS) (OMIM 204690) is a rare autosomal recessive disorder characterized by hypoplastic amelogenesis imperfecta, failed tooth eruption, intrapulpal calcifications, gingival enlargement, and nephrocalcinosis. The rarity of the condition and the variability of the phenotype has led to ERS not being fully characterized.ObjectiveThis scoping review aims to account for the range and current state of knowledge on ERS and synthesize these findings into a comprehensive summary, focusing on the pathophysiology, genotype-phenotype correlations, and patient management from a dental perspective.MethodsThe authors will conduct a systematic search of PubMed (MEDLINE), BioMed Central, EbscoHost Web, Web of Science, and WorldCat. We will include all studies with human participants with a confirmed diagnosis of ERS. Articles will be screened in two stages (ie, initially by title and abstract screening and then full-text screening by two independent reviewers). Data extraction will be conducted using a customized electronic data extraction form. We will provide a narrative synthesis of the findings from the included studies. We will structure the results according to themes.ResultsThis protocol is registered with the Open Science Framework. The electronic search was conducted in July 2020 and updated in April 2021. The research findings will be published in an open access journal.ConclusionsDentists should be able to identify patients with clinical features of ERS so that they receive appropriate referrals for renal evaluation, genetic counseling, and oral rehabilitation to increase the patient’s quality of life. A scoping review is the most appropriate method to conduct this comprehensive exploration of the current evidence, which may be sparse due to the rarity of the condition. It will also enable us to identify gaps in the research.Trial RegistrationOpen Science Framework; https://osf.io/cghsaInternational Registered Report Identifier (IRRID)DERR1-10.2196/29702
Highlights
A scoping review is the most appropriate method to conduct this comprehensive exploration of the current evidence, which may be sparse due to the rarity of the condition
Enamel renal syndrome (ERS) (OMIM 204690) is a rare autosomal recessive disorder characterized by hypoplastic amelogenesis imperfecta (AI), failed tooth eruption, intrapulpal calcifications, gingival enlargement, and nephrocalcinosis [1]
This protocol was completed in July 2020 and registered in Open Science Framework PRISMA-ScR (OSF) [10] in August 2020
Summary
Enamel renal syndrome (ERS) (OMIM 204690) is a rare autosomal recessive disorder characterized by hypoplastic amelogenesis imperfecta (AI), failed tooth eruption, intrapulpal calcifications, gingival enlargement, and nephrocalcinosis [1]. 1 (page number not for citation purposes) the condition and the variability of the phenotype has led to ERS not being fully characterized. The lack of strict diagnostic criteria has led to patient’s renal status being overlooked within those phenotypes, along with underestimation of the actual disease prevalence [3]. This rare genetic entity accounts for less than 1 in 100,000 individuals of the global population, with only 70 cases in 50 different families being documented at present [5]. The rarity of the condition and the variability of the phenotype has led to ERS not being fully characterized
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