Enamel renal gingival syndrome in Indian scenario: A systematic review

Abstract

Background

Enamel renal gingival syndrome (ERS) is a genetic disorder caused by mutations in the FAM20A gene located on long arm of chromosome 17. It is characterized by presence of intra-oral features like hypoplastic type of amelogenesis imperfecta, fibromatosis of gingiva and nephrocalcinosis in addition to delayed eruption. The oral phenotype is evident in childhood, whereas the renal involvement is clinically silent at this age and requires further investigation for detection at later age. Gingival hyperplasia typically accompanies other features of the syndrome but is more variable, ranging from discrete to severe.

Methods

The present review aimed to analyze ERS in Indian population through a comprehensive literature analysis to emphasize the main findings of the syndrome. Present study is a systematic analysis of scientific literature conducted using four databases namely PubMed, Biomed, Cochrane, DOAJ in May 2024. The systematic review was registered in PROSPERO with registration number - CRD42024511916.

Result

A total of 14 articles as per inclusion criteria laid down for the present review were obtained, including data from 18 patients. Gender equivalence was observed among participants, with ages ranging from 09 to 32 years old. The syndrome has shown a genetic pattern, with consanguinity present in eight patients (47%) and a positive familial history in nine patients (52%). Laboratory findings observed mainly included hypocalciuria and hypophosphaturia (16.6%), hypocitraturia (11.1%), 24-h increased fractional excretion of calcium and magnesium and altered serum creatinine (16.6%).

Conclusion

Many times, it could be a dentist who may be the first person to encounter and diagnose such a condition. Enhanced cooperation between medical and dental professionals will result in improved understanding of this condition and enable more efficient and effective treatment of individuals suffering from it.