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Enamel-renal syndrome

From Wikipedia, the free encyclopedia
Enamel-Renal syndrome
Autosomal recessive pattern is the inheritance manner of this condition.
SpecialtyGastroenterology Edit this on Wikidata

Enamel-renal syndrome is a rare autosomal recessive condition.[1] This condition is also known as idiopathic multicentric osteolysis with nephropathy. It is characterised by dental abnormalities and nephrocalcinosis.

Presentation

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The dental abnormalities include

Genetics

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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).[citation needed]

Pathogensis

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The protein is an allosteric activator of the Golgi serine/threonine protein kinase and is involved in biomineralization of teeth.

Diagnosis

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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.[citation needed]

Differential diagnosis

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Treatment

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There is no specific treatment for this condition currently known and management of its various features is the norm.[citation needed]

History

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This condition was first described in 1972.[2]

References

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  1. ^ 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
  2. ^ MacGibbon D (1972) Generalized enamel hypoplasia and renal dysfunction. Aust Dent J 17: 61-63