Enamel-renal syndrome
Enamel-renal syndrome is a rare autosomal recessive condition. This condition is also known as idiopathic multicentric osteolysis with nephropathy. It is characterised by dental abnormalities and nephrocalcinosis. Presentation. The dental abnormalities include Genetics. This condition is caused by mutations in the "FAM20A" gene. This gene encodes a protein – the Golgi apparatus associated secretory pathway pseudokinase. The gene is located on the long arm of chromosome 17 (17q24.2). Pathogensis. The protein is an allosteric activator of the Golgi serine/threonine protein kinase and is involved in biomineralization of teeth. Diagnosis. The diagnosis may be suspected on the  basis of the constellation of clinical features. It is made by sequencing the FAM20A gene. This condition is usually diagnosed in childhood but may not be recognised until early adulthood. The diagnosis is suspected on the combination of nephrocalcinosis and dental abnormalities. Treatment. There is no specific treatment for this condition currently known and management of its various features is the norm. History. This condition was first described in 1972.