Enamel renal syndrome: A case report with calcifications in pulp, gingivae, dental follicle and kidneys.

amelogenesis imperfecta dental enamel hypoplasia gingival overgrowth nephrocalcinosis

Journal

Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry
ISSN: 1754-4505
Titre abrégé: Spec Care Dentist
Pays: United States
ID NLM: 8103755

Informations de publication

Date de publication:
09 Aug 2023
Historique:
revised: 24 07 2023
received: 29 05 2023
accepted: 30 07 2023
medline: 10 8 2023
pubmed: 10 8 2023
entrez: 9 8 2023
Statut: aheadofprint

Résumé

Enamel renal syndrome is a rare genetic disorder transmitted through an autosomal recessive mode. It is featured by a hypoplastic amelogenesis imperfecta, delayed tooth eruption, gingival fibromatosis, and nephrocalcinosis. The aim of this study was to describe clinically, radiologically, and histologically the main features of enamel renal syndrome and to point out the role of dentists in early diagnosing this genetic disease. Our case of enamel renal syndrome was initially described by clinical, radiographic, and genealogic data, then complemented by ultrasound examination of the kidneys and microscopic observation of gingivae. The study showed the presence of amelogenesis imperfecta (AI), several teeth impaction, gingival hyperplasia, bilateral nephrocalcinosis, and multiple calcifications in pulp, gingiva, dental follicle, and kidneys. The patient was followed for a full mouth rehabilitation and also referred to a nephrology for global medical checkup. The dentist plays a key role in diagnosing genetic diseases and in referring patients for medical comprehensive care.

Sections du résumé

BACKGROUND BACKGROUND
Enamel renal syndrome is a rare genetic disorder transmitted through an autosomal recessive mode. It is featured by a hypoplastic amelogenesis imperfecta, delayed tooth eruption, gingival fibromatosis, and nephrocalcinosis. The aim of this study was to describe clinically, radiologically, and histologically the main features of enamel renal syndrome and to point out the role of dentists in early diagnosing this genetic disease.
MATERIALS AND METHODS METHODS
Our case of enamel renal syndrome was initially described by clinical, radiographic, and genealogic data, then complemented by ultrasound examination of the kidneys and microscopic observation of gingivae.
RESULTS RESULTS
The study showed the presence of amelogenesis imperfecta (AI), several teeth impaction, gingival hyperplasia, bilateral nephrocalcinosis, and multiple calcifications in pulp, gingiva, dental follicle, and kidneys.
CONCLUSION CONCLUSIONS
The patient was followed for a full mouth rehabilitation and also referred to a nephrology for global medical checkup. The dentist plays a key role in diagnosing genetic diseases and in referring patients for medical comprehensive care.

Identifiants

DOI: 10.1111/scd.12915 PMID: 37558632
pubmed: 37558632
doi: 10.1111/scd.12915
doi:

Types de publication

Case Reports

Langues

eng

Informations de copyright

© 2023 Special Care Dentistry Association and Wiley Periodicals LLC.

Références

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Auteurs

Rabeb Khalifa (R)

Laboratory of Histology and Embryology, Faculty of Dental Medicine of Monastir, University of Monastir, Monastir, Tunisia.
ABCDF Laboratory for Biological Clinical and Dento-Facial Approach, University of Monastir, Avicenna Avenue, Monastir, Tunisia.
Department of Removable Prosthodontics, Faculty of Dental Medicine, University of Monastir, Monastir, Tunisia.

Rym Kammoun (R)

Laboratory of Histology and Embryology, Faculty of Dental Medicine of Monastir, University of Monastir, Monastir, Tunisia.
ABCDF Laboratory for Biological Clinical and Dento-Facial Approach, University of Monastir, Avicenna Avenue, Monastir, Tunisia.
Department of Radiology, University Dental Clinic, Monastir, Tunisia.

Lamia Mansour (L)

ABCDF Laboratory for Biological Clinical and Dento-Facial Approach, University of Monastir, Avicenna Avenue, Monastir, Tunisia.
Department of Removable Prosthodontics, Faculty of Dental Medicine, University of Monastir, Monastir, Tunisia.

Touhami Ben Alaya (T)

Department of Radiology, University Dental Clinic, Monastir, Tunisia.
Unity of Bioactive Natural Substances and Biotechnology, Faculty of Dental Medicine, University of Monastir, Monastir, Tunisia.

Sonia Ghoul (S)

Laboratory of Histology and Embryology, Faculty of Dental Medicine of Monastir, University of Monastir, Monastir, Tunisia.
ABCDF Laboratory for Biological Clinical and Dento-Facial Approach, University of Monastir, Avicenna Avenue, Monastir, Tunisia.
International Faculty of Dental Medicine, BioMed Unit, College of Health Sciences, International University of Rabat, Technopolis Parc, Rocade of Rabat-Salé, Sala-Al Jadida, Morocco.

Classifications MeSH