PMID- 34851300
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20240405
IS  - 1929-0748 (Print)
IS  - 1929-0748 (Electronic)
IS  - 1929-0748 (Linking)
VI  - 10
IP  - 11
DP  - 2021 Nov 30
TI  - Enamel Renal Syndrome: Protocol for a Scoping Review.
PG  - e29702
LID - 10.2196/29702 [doi]
LID - e29702
AB  - BACKGROUND: Enamel 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. OBJECTIVE: 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 (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. RESULTS: This 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. CONCLUSIONS: Dentists 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 REGISTRATION: Open Science Framework; 
      https://osf.io/cghsa. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): 
      DERR1-10.2196/29702.
CI  - (c)Imaan A Roomaney, Salma Kabbashi, Manogari Chetty. Originally published in JMIR 
      Research Protocols (https://www.researchprotocols.org), 30.11.2021.
FAU - Roomaney, Imaan A
AU  - Roomaney IA
AUID- ORCID: 0000-0001-6789-5484
AD  - Department of Craniofacial Biology, University of the Western Cape, Cape Town, 
      South Africa.
FAU - Kabbashi, Salma
AU  - Kabbashi S
AUID- ORCID: 0000-0002-2875-4547
AD  - Department of Craniofacial Biology, University of the Western Cape, Cape Town, 
      South Africa.
FAU - Chetty, Manogari
AU  - Chetty M
AUID- ORCID: 0000-0002-1176-8539
AD  - Department of Craniofacial Biology, University of the Western Cape, Cape Town, 
      South Africa.
LA  - eng
PT  - Journal Article
DEP - 20211130
PL  - Canada
TA  - JMIR Res Protoc
JT  - JMIR research protocols
JID - 101599504
PMC - PMC8672286
OTO - NOTNLM
OT  - FAM20A gene
OT  - amelogenesis imperfecta
OT  - dental perspective
OT  - dentist
OT  - dentistry
OT  - enamel renal syndrome
OT  - failed tooth eruption
OT  - gingival fibromatosis
OT  - nephrocalcinosis
OT  - oral rehabilitation
OT  - pathophysiology
OT  - quality of life
OT  - rare conditions
OT  - renal evaluation
OT  - scoping review
COIS- Conflicts of Interest: None declared.
EDAT- 2021/12/02 06:00
MHDA- 2021/12/02 06:01
PMCR- 2021/11/30
CRDT- 2021/12/01 12:25
PHST- 2021/04/17 00:00 [received]
PHST- 2021/06/11 00:00 [accepted]
PHST- 2021/06/11 00:00 [revised]
PHST- 2021/12/01 12:25 [entrez]
PHST- 2021/12/02 06:00 [pubmed]
PHST- 2021/12/02 06:01 [medline]
PHST- 2021/11/30 00:00 [pmc-release]
AID - v10i11e29702 [pii]
AID - 10.2196/29702 [doi]
PST - epublish
SO  - JMIR Res Protoc. 2021 Nov 30;10(11):e29702. doi: 10.2196/29702.