|Autosomal recessive pattern is the inheritance manner of this condition|
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.
Signs and symptoms
The dental abnormalities include
- Hypoplastic amelogenesis imperfecta
- Intra-pulpal calcification
- Impacted posterior teeth with hyperplastic pericoronal follicles
- Gingival fibromatosis
- Ectopic calcifications on gingival and pericoronal tissues
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).
The protein is an allosteric activator of the Golgi serine/threonine protein kinase and is involved in biomineralization of teeth.
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.
There is no specific treatment for this condition currently known and management of its various features is the norm.
This condition was first described in 1972.
- ↑ Jaureguiberry G, De la Dure-Molla M, Parry D, Quentric M, Himmerkus N, Koike T, Poulter J, Klootwijk E, Robinette SL, Howie AJ, Patel V, Figueres ML, Stanescu HC, Issler N, Nicholson JK, Bockenhauer D, Laing C, Walsh SB, McCredie DA, Povey S, Asselin A, Picard A, Coulomb A, Medlar AJ, Bailleul-Forestier I, Verloes A, Le Caignec C, Roussey G, Guiol J, Isidor B, Logan C, Shore R, Johnson C, Inglehearn C, Al-Bahlani S, Schmittbuhl M, Clauss F, Huckert M, Laugel V, Ginglinger E, Pajarola S, Spartà G, Bartholdi D, Rauch A, Addor MC, Yamaguti PM, Safatle HP, Acevedo AC, Martelli-Júnior H, dos Santos Netos PE, Coletta RD, Gruessel S, Sandmann C, Ruehmann D, Langman CB, Scheinman SJ, Ozdemir-Ozenen D, Hart TC, Hart PS, Neugebauer U, Schlatter E, Houillier P, Gahl WA, Vikkula M, Bloch-Zupan A, Bleich M, Kitagawa H, Unwin RJ, Mighell A, Berdal A, Kleta R (2013) Nephrocalcinosis (Enamel Renal Syndrome) caused by autosomal recessive FAM20A Mutations. Nephron Physiol 122(1-2): 1–6
- ↑ MacGibbon D (1972) Generalized enamel hypoplasia and renal dysfunction. Aust Dent J 17: 61-63