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Néphrologie & Thérapeutique
Volume 13, n° S1
pages 155-156 (avril 2017)
Doi : 10.1016/j.nephro.2017.02.004
Syndromes hypertrophiques secondaires aux mutations de PIK3CA
PIK3CA- related overgrowth syndrome (PROS)
 

Quitterie Venot a, Guillaume Canaud a, , b, c
a Inserm U1151, hôpital Necker-Enfants malades, 149, rue de Sèvres, 75015 Paris, France 
b Université Paris Descartes, Sorbonne Paris Cité, 149, rue de Sèvres, 75015 Paris, France 
c Service de néphrologie transplantation adultes, hôpital Necker-Enfants malades, 149, rue de Sèvres, 75015 Paris, France 

Auteur correspondant.
Résumé

Cette revue traite des syndromes hypertrophiques liées à une mutation somatique du gène PIK3CA . Cette entité nouvellement décrite englobe un grand nombre de syndromes dysmorphiques ayant comme point commun une mutation activatrice du gène PIK3CA . Les aspectes cliniques, diagnostics moléculaires et prise en charge thérapeutiques sont discutés.

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Abstract

This review presents an overview of a recently characterized spectrum of overgrowth syndrome: phosphoinositide-3 kinase (PI3K)-related overgrowth spectrum (PROS). This spectrum encompasses overgrowth syndromes associated with somatic mosaic activating PIK3CA mutations such as megalencephaly-capillary malformation (MCAP) syndrome, dysplatic megalencephaly (DMEG), congenital lipomatous asymmetric overgrowth of the trunk, lymphatic, capillary, venous, and combined-type vascular malformations, epidermal nevi, skeletal and spinal anomalies (CLOVES) syndrome, hemihyperplasia-multiple lipomatosis (HHML), fibroadipose overgrowth and Klippel-Trenaunay syndrome. Mosaic gain of function mutation in PIK3CA gene leads to abnormal AKT-mTOR pathway activation and is responsible of the clinical manifestations. Here, we summarize the current knowledge on this disorder.

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Mots clés : PIK3CA, Hypertrophie, Diagnostic, Traitement

Keywords : PIK3CA, Hypertophy, Diagnosis and therapeutics




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