Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis caused by CLDN19 gene mutations

Amelogenesis Imperfecta (AI) is a genetic condition characterized by tooth enamel quantitative or qualitative defects. The defects affect the enamel appearance, which can be chalky, discolored, thinner, pitted or grooved. Usually, a combination of different defects can be found within the same patient. In the last decade, studies have shown that AI may be associated with some inherited kidney diseases. In our study, we demonstrated that patients with Familial Hypomagnesemia and Hypecalciuria with Nephrocalcinosis may present AI. This study reinforces the importance of the dental exam of kidney diseases patients and the importance of nephrologic investigation of patients with AI. (By Dr. Ana Carolina Acevedo, http://jmg.bmj.com/content/early/2016/08/16/jmedgenet-2016-103956 )