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Micro-dissection of Enamel Organ from Mandibular Incisor of Rats Exposed to Environmental Toxicants
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Enamel Renal Syndrome: Protocol for a Scoping Review
Imaan A Roomaney1, Salma Kabbashi1, Manogari Chetty1
1Department of Craniofacial Biology, University of the Western Cape, Cape Town, South Africa.
JMIR Research Protocols
|December 1, 2021
Summary
Enamel renal syndrome (ERS) is a rare disorder affecting teeth and kidneys. This scoping review synthesizes current knowledge on ERS pathophysiology, genetics, and dental management to improve patient care.
Area of Science:
- Genetics and Rare Diseases
- Nephrology
- Dentistry
Background:
- Enamel renal syndrome (ERS) is a rare autosomal recessive disorder.
- Characterized by dental anomalies (hypoplastic amelogenesis imperfecta, failed eruption, intrapulpal calcifications, gingival enlargement) and nephrocalcinosis.
- Phenotypic variability and rarity hinder comprehensive characterization.
Purpose of the Study:
- To conduct a scoping review of Enamel renal syndrome (ERS).
- To synthesize current knowledge on ERS pathophysiology, genotype-phenotype correlations, and dental management.
- To identify research gaps and inform clinical practice.
Main Methods:
- Systematic literature search of major databases (PubMed, Web of Science, etc.).
- Inclusion of studies with confirmed human ERS diagnoses.
- Two-stage screening process and data extraction for narrative synthesis.
Main Results:
- Protocol registered on Open Science Framework (OSF).
- Literature search conducted July 2020, updated April 2021.
- Findings will be published in an open-access journal.
Conclusions:
- Dentists play a key role in identifying ERS clinical features.
- Early identification facilitates referrals for renal evaluation, genetic counseling, and oral rehabilitation.
- Scoping review methodology is suitable for exploring sparse evidence and identifying research gaps.
Keywords:
FAM20A geneamelogenesis imperfectadental perspectivedentistdentistryenamel renal syndromefailed tooth eruptiongingival fibromatosisnephrocalcinosisoral rehabilitationpathophysiologyquality of liferare conditionsrenal evaluationscoping reviewMore Related Videos
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