Enamel Renal Syndrome: A Systematic Review

Area of Science:

• Genetics
• Nephrology
• Dentistry

Background:

• Enamel renal syndrome (ERS) is a rare autosomal recessive disorder.
• It is characterized by hypoplastic amelogenesis and nephrocalcinosis.
• ERS is associated with mutations in the FAM20A gene.

Purpose of the Study:

• To systematically review and characterize Enamel Renal Syndrome (ERS).
• To highlight the main findings of ERS to enhance health professional knowledge.
• To consolidate current understanding of ERS etiology and clinical presentation.

Main Methods:

• Systematic literature review of studies on ERS.
• Database search conducted on PubMed in March 2018.
• Analysis of 30 selected articles encompassing 69 patients.

Main Results:

• ERS presents with thin or absent enamel, delayed tooth eruption, and nephrocalcinosis.
• A strong hereditary component was observed, with consanguinity in 26.08% and family history in 43.47% of cases.
• All analyzed patients with ERS screened for the mutation were positive for FAM20A gene mutations.

Conclusions:

• Enamel renal syndrome demonstrates no gender or age predilection.
• The syndrome has a significant hereditary basis, strongly linked to FAM20A gene mutations.
• Further research may explore associations with gingival fibromatosis, hearing loss, and hypertrichosis.