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Updated: Jun 6, 2025

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Enamel Renal Syndrome: A Case Report.

Nairica Rebello1, Anita E Spadigam1, Anita Dhupar1

  • 1Oral and Maxillofacial Pathology, Microbiology and Forensic Odontology, Goa Dental College and Hospital, Panjim, IND.

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|November 25, 2024
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Summary
This summary is machine-generated.

Enamel renal syndrome, a rare genetic disorder affecting teeth and kidneys, is often underdiagnosed. Early diagnosis through comprehensive dental and medical evaluation is crucial for managing this condition.

Keywords:
amelogenesis imperfectacase reportenamel hypoplasiagingival fibromatosisnephrocalcinosis

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Area of Science:

  • Dentistry
  • Genetics
  • Nephrology

Background:

  • Amelogenesis imperfecta is a genetic disorder affecting tooth enamel quality and quantity.
  • Enamel renal syndrome is a rare condition characterized by amelogenesis imperfecta and renal calculi.
  • Underestimation of enamel renal syndrome prevalence is linked to ambiguous diagnostic criteria.

Observation:

  • A 12-year-old male presented with a two-year history of yellowish tooth discoloration and fibrotic gingival enlargement.
  • No significant past medical or dental history was reported.
  • Abdominal ultrasound revealed the presence of renal calculi.

Findings:

  • Clinical, pathological, and radiographic features supported a diagnosis of enamel renal syndrome.
  • The patient exhibited both dental defects (amelogenesis imperfecta) and renal involvement (renal calculi).

Implications:

  • This case highlights the importance of a thorough diagnostic workup for amelogenesis imperfecta.
  • Comprehensive evaluation is necessary to identify potential systemic involvement, such as renal calculi.
  • Timely diagnosis and management can prevent complications associated with enamel renal syndrome.