Enamel Renal Syndrome: A Scoping Review Protocol

Abstract

Background: Enamel Renal Syndrome (ERS) (OMIM # 204690) is a rare autosomal recessive disorder characterized by hypoplastic amelogenesis imperfecta (AI), failed tooth eruption, intra-pulpal calcifications, gingival enlargement and nephrocalcinosis. The rarity of the condition and the variability of the phenotype has led to ERS not being fully characterized. This 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.Methods: The 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 i.e. initially by title and abstract screening and then full-text screening by two independent reviewers. Data extraction will be conducted using a customised 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.Discussion: Dentists should be able to identify patients with clinical features of ERS so that they receive appropriate referrals for renal evaluation, genetic counselling 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.Registration: This study is registered with the Open Science Framework (OSF) (https://osf.io/cghsa).