Nephrocalcinosis in Amelogenesis Imperfecta Caused by the FAM20A Mutation.

Koruyucu M., Seymen F., Gencay G., Gencay K., Tuna E. B., Shin T. J., ...More

Nephron, vol.139, no.2, pp.189-196, 2018 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 139 Issue: 2
  • Publication Date: 2018
  • Doi Number: 10.1159/000486607
  • Journal Name: Nephron
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.189-196
  • Keywords: Amelogenesis imperfecta, Enamel, FAM20A, Nephrocalcinosis, IMPAIRED RENAL CONCENTRATION, 2 SIBLINGS, ENAMEL, DELETION, BIOMINERALIZATION, SLC24A4, FAMILY
  • Istanbul University Affiliated: Yes

Abstract

Background/Aims: Enamel-renal syndrome is characterized by nephrocalcinosis, enamel defects, gingival hyperplasia and eruption failures. It has been recently identified that recessive mutations in the FAM20A gene result in amelogenesis imperfecta (AI)-gingival fibromatosis. The aim of this research to determine whether AI patients with known -FAM20A mutations also have nephrocalcinosis. Methods: Complete oral and radiological examinations were performed for all participating family members. Renal examinations were performed using ultrasound. Results: The teeth were evaluated for severe loss, and multiple eruption failures were evident from the clinical and radiological examinations. Unexpected extensive and fast crown resorption was found by radiological examination. Renal ultrasound revealed bilateral nephrocalcinosis in both affected individuals. Recessive FAM20A mutations can cause nephrocalci-nosis in addition to the oral phenotype. Conclusion: AI patients with similar clinical phenotypes and FAM20A mutations should be examined for nephropathy even if they lack pertinent symptoms. Nephrology referral is warranted for patients who have clinical phenotypes related to AI-gingival fibromatosis even if they are not symptomatic. (C) 2018 S. Karger AG, Basel