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

Sooji Choi (최수지); Young Bae Sohn (손영배); Suk Ji (지숙); SEUNG-IL SONG (송승일); Jeongwon Shin (신정원); Seunghye Kim (김승혜)

doi:10.5933/JKAPD.2020.47.3.344

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

Journal of the Korean academy of pediatric dentistry
Abbr : J Korean Acad Pediatr Dent
2020, 47(3), pp.344-351
DOI : 10.5933/JKAPD.2020.47.3.344
Publisher : The Korean Academy Of Pediatric Dentistry
Research Area : Medicine and Pharmacy > Dentistry
Received : October 15, 2019
Accepted : November 21, 2019
Published : August 31, 2020

Sooji Choi ¹, Young Bae Sohn ², Suk Ji ², SEUNG-IL SONG ², Jeongwon Shin ³, Seunghye Kim ⁴

¹아주대학교 치과병원 소아치과
²아주대학교
³아주대학교 치과병원 교정과
⁴(학)아주대학교의료원

Accredited

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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Journal of the Korean academy of pediatric dentistry 2023 KCI Impact Factor : 0.48

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

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* References for papers published after 2023 are currently being built.

Journal of the Korean academy of pediatric dentistry 2023 KCI Impact Factor : 0.48

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

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