Farias Maria Luiza Morais, Ornela Gabriela Oliveira, de Andrade Rodrigo Soares, Martelli Daniella Reis B, Dias Verônica Oliveira, Júnior Hercílio Martelli
Medicine School, Institute of Health Sciences, State University of Montes Claros, Unimontes, Minas Gerais State, Brazil.
Department of Oral Diagnosis, School of Dentistry, State University of Campinas, FOP-UNICAMP, Piracicaba, São Paulo, Brazil.
Indian J Nephrol. 2021 Jan-Feb;31(1):1-8. doi: 10.4103/ijn.IJN_27_19. Epub 2021 Jan 27.
The enamel renal syndrome (ERS) is a rare autosomal recessive disease that is associated with mutations in the gene. The syndrome is characterized by impaired amelogenesis of the hypoplastic type and nephrocalcinosis, presenting with presence of thin or absence of enamel, late dental eruption, intrapulpal calcifications, bilateral nephrocalcinosis, and normal plasma calcium level. The objective is to characterize ERS by systematically literature reviewing, highlighting the main findings of the syndrome to increase knowledge about this condition in the health professionals. The study is a systematic review of the scientific literature, whose research was developed in the PubMed database in March 2018. A total of 69 articles were found. Two authors analyzed their abstracts and selected, according to the language and main subject, 30 articles to write this study. A total of 69 patients were cited in the studies and their data were analysed. There was gender equivalence and the ages ranged from 1 to 64 years old. There is a clear hereditary relation of the syndrome, since there was consanguinity in 18 cases, indicating a percentage of 26.08% and family history in 30 cases (43.47%). Laboratory changes vary greatly from patient to patient and may even remain unchanged. The relationship between the syndrome and the mutation in the gene can be proven from the data, since all patients with ERS screened by the mutation were positive. With the advancement of the ERS studies, some associations with the syndrome are suspected, such as the presence of gingival fibromatosis, hearing loss, and hypertrichosis. Thus, it is noticed that the syndrome does not show a predilection for gender or age and there is a strong hereditary character, marked by the consanguinity and family history of the patients. The association with the gene is reinforced, since the mutation was identified in all patients analyzed.
釉质-肾综合征（ERS）是一种罕见的常染色体隐性疾病，与该基因的突变有关。该综合征的特征是发育不全型釉质形成受损和肾钙质沉着症，表现为釉质薄或缺失、牙齿萌出延迟、牙髓内钙化、双侧肾钙质沉着症以及血浆钙水平正常。目的是通过系统的文献综述来描述ERS，突出该综合征的主要发现，以增加卫生专业人员对这种疾病的了解。该研究是对科学文献的系统综述，其研究于2018年3月在PubMed数据库中开展。共找到69篇文章。两位作者分析了这些文章的摘要，并根据语言和主要主题选择了30篇文章来撰写本研究。研究中总共引用了69例患者，并对他们的数据进行了分析。患者性别均衡，年龄范围为1至64岁。该综合征存在明显的遗传关系，因为18例患者有血缘关系，占比26.08%，30例患者有家族病史（43.47%）。实验室检查结果在患者之间差异很大，甚至可能保持不变。从数据中可以证明该综合征与该基因的突变之间的关系，因为所有通过该突变筛查的ERS患者均为阳性。随着ERS研究的进展，怀疑该综合征与某些情况有关联，如牙龈纤维瘤病、听力丧失和多毛症。因此，可以注意到该综合征对性别或年龄没有偏好，并且具有很强的遗传特征，以患者的血缘关系和家族病史为标志。由于在所有分析的患者中都鉴定出了突变，因此与该基因的关联得到了加强。
