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http://dx.doi.org/10.5933/JKAPD.2020.47.3.344

Enamel Renal Syndrome: A Case Report of Amelogenesis Imperfecta Associated with Nephrocalcinosis  

Choi, Sooji (Department of Pediatric Dentistry, Ajou University Dental Hospital)
Sohn, Young Bae (Department of Medical Genetics, Ajou University Hospital, Ajou University School of Medicine)
Ji, Suk (Department of Periodontology, Ajou University Dental Hospital)
Song, Seungil (Department of Oral and Maxillofacial Surgery, Ajou University Dental Hospital)
Shin, Jeongwon (Department of Orthodontics, Ajou University Dental Hospital)
Kim, Seunghye (Department of Pediatric Dentistry, Ajou University Dental Hospital)
Publication Information
Journal of the korean academy of Pediatric Dentistry / v.47, no.3, 2020 , pp. 344-351 More about this Journal
Abstract
Amelogenesis imperfecta (AI) occurs either in isolation or in association with other dental abnormalities and systemic disorder. A rare syndrome associating AI with nephrocalcinosis was named as Enamel Renal Syndrome (ERS; OMIM #204690). This syndrome is characterized by severe enamel hypoplasia, failed tooth eruption, intra pulpal calcifications, enlarged gingiva, and nephrocalcinosis. Nephrocalcinosis is a condition where calcium salts are deposited in renal tissue, and this may lead to critical kidney complications. This rare syndrome shows pathognomonic oral characteristics that are easily detectable at an early age, which proceeds the onset of renal involvement. Pediatric dentists are the first oral health practitioners whom ERS patients will meet at early age. The role of pediatric dentists is critically important for early diagnosis and referral of patients to both nephrologists for renal assessment and geneticists for identification of causative mutation and diagnosis. Early detection of renal involvement may provide chances to prevent further undesired renal complications.
Keywords
Enamel Renal Syndrome (ERS); Amelogenesis Imperfecta; Nephrocalcinosis;
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