Alterations in oral cavity and kidney associated with FAM20A mutations: a systematic review

Relevance of the problem and aim of the work: Hypoplastic Amelogenesis imperfecta, gingival fibromatosis and nephrocalcinosis are associated with FAM20A mutations. In order to reduce the progression of renal changes in early stages caused by FAM20A mutations, it’s crucial to know all major changes in the oral cavity also caused by this gene. The aim of this systematic review was to find and analyze publications about FAM20A mutations and the changes they cause in the oral cavity and kidneys. Material and methods: Publications were searched in Medline (Pubmed), Wiley Online Library databases. 10 publications were selected that were corresponding to our PICOS criteria. Results: Gingival fibromatosis, hypoplastic enamel, microdontia, absence of contact points and delayed eruption of the teeth in primary and permanent dental arches were common findings in patients with FAM20A mutations. Histological analysis of fibromatous gingiva observes gingival hyperplasia and calcified bodies in connective tissue. Orthopantomograms usually show pulp calcification, sclerosed tissues around impacted permanent teeth, less frequently - external impacted teeth resorption and incorrect position of dental follicles. 21 patients had cortical or medullar multifocal renal nephrocalcinosis. Conclusions: It can be assumed that FAM20A mutations can be inherited in an autosomal recessive manner, and are more common in consanguineous marriages. Individuals with such mutations are prone to the hypoplastic type of Amelogenesis imperfecta, delayed eruption of permanent teeth, impacted permanent teeth, external impacted teeth resorption, gingival fibromatosis and multifocal nephrocalcinosis, but there is a need for subsequent investigations