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Bilateral nephrocalcinosis and amelogenesis imperfecta: A case report
Alok Patel1, Chetana Jagtap1, Chetan Bhat1
1Department of Pediatric and Preventive Dentistry, Bharati Vidyapeeth Dental College and Hospital, Pune, Maharashtra, India.
Amelogenesis imperfecta (AI) is a rare genetic disorder affecting tooth enamel. This case highlights the crucial link between dental abnormalities and kidney disease, emphasizing the need for early screening.
Area of Science:
- Dentistry
- Genetics
- Nephrology
Background:
- Amelogenesis imperfecta (AI) encompasses hereditary disorders impacting dental enamel quality and quantity.
- Early identification of AI is crucial for managing associated systemic conditions.
Observation:
- A patient presented with yellow, misshapen teeth, delayed eruption, and gum enlargement.
- Dental examination revealed hypoplastic enamel; renal ultrasound detected bilateral nephrocalcinosis.
Findings:
- The patient was diagnosed with Amelogenesis imperfecta and nephrocalcinosis syndrome.
- This case underscores the potential for concurrent dental and renal pathologies.
Implications:
- Dentists should consider renal screening for children with generalized, thin hypoplastic AI.
- Nephrologists should evaluate dental health in children diagnosed with nephrocalcinosis.
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