釉质-肾综合征：病例报告

Enamel-Renal-Syndrome: case report.

作者信息

Torres Luiz Henrique Soares, de-Azevedo-Vaz Sérgio Lins, Barroso Danielle Resende Camisasca, Silva Daniela Nascimento, Velloso Tânia Regina Grão, de Barros Liliana Aparecida Pimenta

机构信息

Maxillofacial Surgery and Traumatology Department, Oswaldo Cruz University Hospital, University of Pernambuco, Pernambuco, Brazil.

Clinical Dentistry Department, Postgraduate Program in Dentistry Department, Federal University of Espirito Santo, UFES, Vitória, Espírito, Brazil.

出版信息

Spec Care Dentist. 2018 May;38(3):172-175. doi: 10.1111/scd.12288. Epub 2018 Apr 19.

DOI:10.1111/scd.12288

PMID:29672880

Abstract

AIMS

to describe a case in which dental changes were observed and investigation proceeded to consider Enamel-Renal-Syndrome (ERS), a rare disorder that associates amelogenesis imperfecta with nephrocalcinosis.

CASE REPORT

an 11-year-old male patient upon intraoral examination revealed generalized gingival hyperplasia, a few teeth were absent clinically and the remaining ones were yellowish-brown in color. The enamel alterations were suggesting of amelogenesis imperfecta. Unerupted teeth with increased pericoronal spaces, suggesting hyperplasic follicles or dentigerous cysts and an enamel with lower thickness and density were observed in the panoramic radiography. The patient was referred for an assay to investigate mucopolysaccharidosis; however, it was negative. A renal ultrasound showed bilateral nephrocalcinosis and laboratory exams, including calcium, phosphate, and creatinine levels were below the average. An incisional gingival biopsy showed numerous round to ovoid basophilic calcifications in the connective tissue. The final diagnosis was ERS.

CONCLUSION

Dentists should refer patients with similar clinical presentation for renal ultrasound evaluation in order to rule out the possible diagnosis of ERS.

摘要

目的

描述一例观察到牙齿变化并进行调查以考虑釉质-肾综合征（ERS）的病例，ERS是一种罕见的疾病，将牙釉质发育不全与肾钙质沉着症联系在一起。

病例报告

一名11岁男性患者经口腔检查发现广泛性牙龈增生，临床上有几颗牙齿缺失，其余牙齿呈黄褐色。牙釉质改变提示牙釉质发育不全。全景X线片显示未萌出牙齿的冠周间隙增大，提示滤泡增生或含牙囊肿以及牙釉质厚度和密度降低。该患者被转诊进行检测以调查黏多糖贮积症；然而，检测结果为阴性。肾脏超声显示双侧肾钙质沉着症，包括钙、磷和肌酐水平在内的实验室检查结果低于平均水平。切开牙龈活检显示结缔组织中有许多圆形至卵圆形嗜碱性钙化。最终诊断为ERS。