Amelogenesis Imperfecta with Nephrocalcinosis: A Rare Association in Siblings

Reddy, P Indeevar; Aravelli, Swathi; Goud, S Somasekhar; Malathi, Loka

doi:10.7759/cureus.5060

Cited by 7 publications

(8 citation statements)

References 9 publications

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“…ERS is a rare disorder and not much awareness exists around the condition, even within the dental fraternity [ 11 ]. Conversely, AI is a relatively common disorder of enamel formation encountered by dentists and often occurs as an isolated trait or part of a syndrome [ 1 ].…”

Section: Discussionmentioning

confidence: 99%

“…It is also important to provide the patient with oral rehabilitation to increase the patient’s quality of life, which can be severely impaired by this condition [ 5 ]. Primary failure of eruption is difficult to manage, and there is no current literature about assisted eruption with orthodontic traction in patients with ERS [ 11 ]. It does appear that the normal eruptive process of teeth is altered leading to impaction and ankylosis [ 11 ].…”

Section: Discussionmentioning

confidence: 99%

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Enamel Renal Syndrome: Protocol for a Scoping Review

Roomaney¹,

Kabbashi²

2021

JMIR Res Protoc

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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

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Enamel Renal Syndrome: Protocol for a Scoping Review

Roomaney¹,

Kabbashi²

2021

JMIR Res Protoc

View full text Add to dashboard Cite

show abstract

“…ERS is a rare disorder and not much awareness exists around the condition, even within the dental fraternity (10). Conversely, AI is a relatively common disorder of enamel formation encountered by dentists and often occurs as an isolated trait, or part of a syndrome (1).…”

Section: Discussionmentioning

confidence: 99%

“…It is also important to provide the patient with oral rehabilitation to increase the patient's quality of life, which can be severely impaired by this condition (5). Primary failure of eruption is di cult to manage, and there is no current literature about assisted eruption with orthodontic traction in patients with ERS (10). It does appear that the normal eruptive process of teeth is altered leading to impaction and ankylosis (10).…”

Section: Discussionmentioning

confidence: 99%

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Enamel Renal Syndrome: A Scoping Review Protocol

Roomaney¹,

Kabbashi²

2020

Preprint

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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).

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Mendelian Disorders in an Interstitial Cystitis/Bladder Pain Syndrome Cohort

et al. 2022

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Interstitial cystitis/bladder pain syndrome (IC/BPS) is a chronic pain disorder causing symptoms of urinary frequency, urgency, and bladder discomfort or pain. Although this condition affects a large population, little is known about its etiology. Genetic analyses of whole exome sequencing are performed on 109 individuals with IC/BPS. One family has a previously reported SIX5 variant (ENST00000317578.6:c.472G>A, p.Ala158Thr), consistent with Branchiootorenal syndrome 2 (BOR2). A likely pathogenic heterozygous variant in ATP2A2 (ENST00000539276.2:c.235G>A, p.Glu79Lys) is identified in two unrelated probands, indicating possible Darier‐White disease. Two private heterozygous variants are identified in ATP2C1 (ENST00000393221.4:c.2358A>T, p.Glu786Asp (VUS/Likely Pathogenic) and ENST00000393221.4:c.989C>G, p.Thr330Ser (likely pathogenic)), indicative of Hailey‐Hailey Disease. Sequence kernel association test analysis finds an increased burden of rare ATP2C1 variants in the IC/BPS cases versus a control cohort (p = 0.03, OR = 6.76), though does not survive Bonferroni correction. The data suggest that some individuals with IC/BPS may have unrecognized Mendelian syndromes. Comprehensive phenotyping and genotyping aid in understanding the range of diagnoses in the population‐based IC/BPS cohort. Conversely, ATP2C1, ATP2A2, and SIX5 may be candidate genes for IC/BPS. Further evaluation with larger numbers is needed. Genetically screening individuals with IC/BPS may help diagnose and treat this painful disorder due to its heterogeneous nature.

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Amelogenesis Imperfecta with Nephrocalcinosis: A Rare Association in Siblings

Cited by 7 publications

References 9 publications

Enamel Renal Syndrome: Protocol for a Scoping Review

Enamel Renal Syndrome: Protocol for a Scoping Review

Enamel Renal Syndrome: A Scoping Review Protocol

Mendelian Disorders in an Interstitial Cystitis/Bladder Pain Syndrome Cohort

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