Nephrocalcinosis in Amelogenesis Imperfecta Caused by the FAM20A Mutation.

Autor:	Koruyucu M; Department of Pedodontics, Faculty of Dentistry Istanbul University, Istanbul, Turkey., Seymen F; Department of Pedodontics, Faculty of Dentistry Istanbul University, Istanbul, Turkey., Gencay G; Department of Pediatrics, Faculty of Medicine Istanbul University, Istanbul, Turkey., Gencay K; Department of Pedodontics, Faculty of Dentistry Istanbul University, Istanbul, Turkey., Tuna EB; Department of Pedodontics, Faculty of Dentistry Istanbul University, Istanbul, Turkey., Shin TJ; Department of Pediatric Dentistry and Dental Research Institute School of Dentistry, Seoul National University, Seoul, Republic of Korea., Hyun HK; Department of Pediatric Dentistry and Dental Research Institute School of Dentistry, Seoul National University, Seoul, Republic of Korea., Kim YJ; Department of Pediatric Dentistry and Dental Research Institute School of Dentistry, Seoul National University, Seoul, Republic of Korea., Kim JW; Department of Pediatric Dentistry and Dental Research Institute School of Dentistry, Seoul National University, Seoul, Republic of Korea.
Jazyk:	angličtina
Zdroj:	Nephron [Nephron] 2018; Vol. 139 (2), pp. 189-196. Date of Electronic Publication: 2018 Feb 13.
DOI:	10.1159/000486607
Abstrakt:	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 nephrocalcinosis 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. (© 2018 S. Karger AG, Basel.)
Databáze:	MEDLINE
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