Periodontitis treatment and microbiome in a patient with FAM20A mutation: Case study of 1.5 years

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.