Tay John Rong Hao, Balan Preethi, Seneviratne Chaminda Jayampath
Department of Restorative Dentistry, National Dental Centre Singapore, Singapore, Singapore.
Health Services and Systems Research Program, Duke-NUS Medical School, Singapore, Singapore.
Clin Adv Periodontics. 2025 Jul 28. doi: 10.1002/cap.10365.
Enamel-renal-gingival syndrome (ERGS) is an autosomal recessive disorder caused by mutations in the FAMily with sequence similarity 20A (FAM20A) gene, and is characterized by amelogenesis imperfecta, delayed or failed tooth eruption, and periodontitis. This study aims to profile the salivary microbiome and monitor the clinical progression in a young adult patient with FAM20A mutations.
Treatment involved non-surgical therapy including scaling and root planing (SRP) and systemic amoxicillin and metronidazole, and reviewed for 1.5 years.
Probing depth reduction with no sites of 5 mm or deeper was achieved at 1.5 years post-treatment. Saliva microbiome profiles of the patient revealed a decrease in periodontitis-associated pathogenic bacteria including Tannerella forsythia, Treponema denticola, Prevotella intermedia, and Treponema parvum, and a repopulation of health-associated species at 6 months. Predictive analysis revealed a decrease in the cell motility pathway relative to the 2-month time point and baseline.
FAM20A mutations may alter the periodontal microenvironment, potentially contributing to microbial dysbiosis. However, therapy consisting of SRP and systemic antibiotics may result in clinical improvements, demonstrating that the microbiome plays a role in health and disease even in syndromic cases.
Patients presenting with amelogenesis imperfecta may present with periodontitis as a manifestation of systemic disease. Such cases are treatable without the need for extensive serial extractions of teeth.
People with enamel-renal-gingival syndrome, a rare genetic condition, experience problems such as poorly formed enamel, delayed tooth eruption, and severe gum disease. In this study, a 22-year-old adult with enamel-renal-gingival syndrome was followed up to understand how her saliva microbiome changed after treatment. The patient received professional deep cleaning and systemic antibiotics and was followed up for 1.5 years. Treatment successfully led to probing depth reduction. Analysis of the saliva microbiome showed a reduction in bacteria associated with periodontitis and an increase in bacteria associated with health. These findings suggest that enamel-renal-gingival syndrome may create an oral environment that encourages bacterial imbalance in the mouth, contributing to gum disease. However, the results also show that standard gum disease treatment can still be effective. Changes in the microbiome were observed alongside clinical improvement, pointing to the microbiome's potential relevance in both disease and recovery.
釉质-肾-牙龈综合征（ERGS）是一种常染色体隐性疾病，由家族序列相似性20A（FAM20A）基因突变引起，其特征为牙釉质发育不全、牙齿萌出延迟或失败以及牙周炎。本研究旨在分析一名患有FAM20A突变的年轻成年患者的唾液微生物群，并监测其临床进展。
治疗包括非手术治疗，如龈上洁治和根面平整（SRP）以及全身性阿莫西林和甲硝唑治疗，并进行了1.5年的复查。
治疗后1.5年时，探诊深度降低，无5毫米或更深的位点。患者的唾液微生物群谱显示，与牙周炎相关的病原菌减少，包括福赛坦纳菌、具核梭杆菌、中间普氏菌和微小密螺旋体，并且在6个月时与健康相关的菌种重新出现。预测分析显示，相对于2个月时间点和基线，细胞运动途径减少。
FAM20A突变可能会改变牙周微环境，可能导致微生物群落失调。然而，由SRP和全身性抗生素组成的治疗可能会带来临床改善，这表明即使在综合征病例中，微生物群也在健康和疾病中发挥作用。
患有牙釉质发育不全的患者可能会出现牙周炎，作为全身性疾病的一种表现。此类病例无需进行广泛的系列拔牙即可治疗。
患有釉质-肾-牙龈综合征（一种罕见的遗传疾病）的人会出现诸如牙釉质形成不良、牙齿萌出延迟和严重牙龈疾病等问题。在本研究中，一名患有釉质-肾-牙龈综合征的22岁成年人接受了随访，以了解其治疗后唾液微生物群如何变化。该患者接受了专业的深度清洁和全身性抗生素治疗，并随访了1.5年。治疗成功导致探诊深度降低。对唾液微生物群的分析显示，与牙周炎相关的细菌减少，与健康相关的细菌增加。这些发现表明，釉质-肾-牙龈综合征可能会创造一个促进口腔细菌失衡的口腔环境，导致牙龈疾病。然而，结果也表明标准的牙龈疾病治疗仍然有效。在临床改善的同时观察到了微生物群的变化，这表明微生物群在疾病和康复中都具有潜在的相关性。
