Nephrocalcinosis in Amelogenesis Imperfecta Caused by the FAM20A Mutation.
作者： Mine Koruyucu , Figen Seymen , Genco Gencay , Koray Gencay , Elif Bahar Tuna
DOI: 10.1159/000486607
关键词:
摘要: 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 amelogenesis imperfecta (AI)-gingival fibromatosis. The aim of this research to determine whether AI patients with known -FAM20A also have nephrocalcinosis. METHODS Complete oral radiological examinations were performed for all participating family members. Renal using ultrasound. RESULTS teeth evaluated severe loss, multiple failures evident from clinical examinations. Unexpected extensive fast crown resorption was found examination. ultrasound revealed bilateral nephrocalcinosis both affected individuals. Recessive can cause addition phenotype. CONCLUSION similar phenotypes should be examined nephropathy even if they lack pertinent symptoms. Nephrology referral warranted who related AI-gingival fibromatosis are not symptomatic.
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