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Enamel renal syndrome: a rare case report
S V Kala Vani1, M Varsha, Y Uday Sankar
1Department of Orthodontics and Dentofacial Orthopedics, C. K. S. Teja Institutions of Dental Sciences, Tirupati, Andhra Pradesh, India.
Summary
Enamel renal syndrome, a rare disorder linking amelogenesis imperfecta and nephrocalcinosis, was described in a female patient from a consanguineous family. This condition involves enamel agenesis and medullary nephrocalcinosis.
Area of Science:
- Genetics and rare diseases
- Nephrology and dentistry
Background:
- Enamel renal syndrome (ERS) is a rare genetic disorder.
- It is characterized by the association of amelogenesis imperfecta (AI) and nephrocalcinosis.
- ERS has several synonyms, including amelogenesis imperfecta nephrocalcinosis syndrome, MacGibbon syndrome, Lubinsky syndrome, and Lub Lubinsky-MacGibbon syndrome.
Observation:
- This paper details a case of ERS in a female patient.
- The patient was born into a consanguineous family, suggesting a potential genetic component.
- The syndrome is defined by enamel agenesis and medullary nephrocalcinosis.
Findings:
- The study presents a clinical description of ERS.
- It highlights the co-occurrence of dental anomalies (enamel agenesis) and kidney calcification (medullary nephrocalcinosis).
- The consanguineous nature of the family provides a unique context for studying this rare condition.
Implications:
- This case contributes to the understanding of ERS's clinical presentation.
- It underscores the importance of recognizing ERS in patients with both dental and renal abnormalities.
- Further research into the genetic basis of ERS in consanguineous families may reveal specific inheritance patterns or mutations.
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