Department of Pedodontics, Faculty of Dentistry Istanbul University, Istanbul, Turkey.
Department of Pediatrics, Faculty of Medicine Istanbul University, Istanbul, Turkey.
Nephron. 2018;139(2):189-196. doi: 10.1159/000486607. Epub 2018 Feb 13.
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.
Complete oral and radiological examinations were performed for all participating family members. Renal examinations were performed using ultrasound.
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.
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.
背景/目的：牙-肾综合征的特征是肾钙质沉着症、釉质缺陷、牙龈增生和出牙失败。最近发现 FAM20A 基因突变导致釉质发育不全（AI）-牙龈纤维瘤病。本研究旨在确定是否具有已知-FAM20A 突变的 AI 患者也有肾钙质沉着症。
对所有参与的家庭成员进行全面的口腔和影像学检查。使用超声进行肾脏检查。
牙齿评估为严重缺失，临床和影像学检查显示多处出牙失败。影像学检查发现意外的广泛和快速牙冠吸收。肾脏超声显示两名受影响个体均有双侧肾钙质沉着症。隐性 FAM20A 突变除了口腔表型外还可引起肾钙质沉着症。
即使没有相关症状，具有相似临床表型和 FAM20A 突变的 AI 患者也应检查是否有肾病。即使无症状，具有与 AI-牙龈纤维瘤病相关的临床表型的患者也需要转诊肾脏科。
