Enamel Renal Syndrome: A Case Report of Amelogenesis Imperfecta Associated with Nephrocalcinosis

Abstract

Amelogenesis imperfecta (AI) occurs either in isolation or in association with other dental abnormalities and systemic disorder. A rare syndrome associating AI with nephrocalcinosis was named as Enamel Renal Syndrome (ERS; OMIM #204690). This syndrome is characterized by severe enamel hypoplasia, failed tooth eruption, intra pulpal calcifications, enlarged gingiva, and nephrocalcinosis. Nephrocalcinosis is a condition where calcium salts are deposited in renal tissue, and this may lead to critical kidney complications.This rare syndrome shows pathognomonic oral characteristics that are easily detectable at an early age, which proceeds the onset of renal involvement. Pediatric dentists are the first oral health practitioners whom ERS patients will meet at early age. The role of pediatric dentists is critically important for early diagnosis and referral of patients to both nephrologists for renal assessment and geneticists for identification of causative mutation and diagnosis. Early detection of renal involvement may provide chances to prevent further undesired renal complications.

Case report: Enamel renal syndrome: a case series from sub-Saharan Africa

“…Case 4, a 16-year-old male, displayed nephrocalcinosis with associated kidney dysfunction. There is uncertainty about whether nephrocalcinosis develops with increasing age since some reports have identified nephrocalcinosis in very young patients ( 10 , 14 , 30 – 33 ), including patients as young as six years old ( 14 , 30 ). In 2012, Jaureguiberry et al ( 6 ) investigated 25 patients from 16 families with the ERS oral profile and nephrocalcinosis and speculated that all individuals with biallelic FAM20A mutations would eventually show nephrocalcinosis; however, several authors failed to identify any renal involvement in patients presenting with the typical oral profile of ERS ( 8 , 15 , 17 , 18 , 34 ).…”