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Clinical and molecular spectrum of renal malformations in Kabuki syndrome.

Courcet, Jean-Benoît; Faivre, Laurence; Michot, Caroline; Burguet, Antoine; Perez-Martin, Stéphanie; Alix, Eudeline; Amiel, Jeanne; Baumann, Clarisse; Cordier, Marie-Pierre; Cormier-Daire, Valérie; Delrue, Marie Ange; Gilbert-Dussardier, Brigitte; Goldenberg, Alice; Jacquemont, Marie-Line; Jaquette, Aurélia; Kayirangwa, Honorine; Lacombe, Didier; Le Merrer, Martine; Toutain, Annick; Odent, Sylvie; Moncla, Anne; Pelet, Anna; Philip, Nicole; Pinson, Lucille; Poisson, Sylvain; Kim-Han, Le Quan Sang; Roume, Joelle; Sanchez, Elodie; Willems, Marjolaine; Till, Marianne; Vincent-Delorme, Catherine; Mousson, Christiane; Vinault, Sandrine; Binquet, Christine; Huet, Frédéric; Sarda, Pierre; Salomon, Rémi; Lyonnet, Stanislas; Sanlaville, Damien; Geneviève, David.
J Pediatr; 163(3): 742-6, 2013 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-23535010


To determine the frequency and types of renal malformations, and to evaluate renal function in a cohort of patients with Kabuki syndrome (KS).


Renal ultrasound scans and plasma creatinine measurements were collected from a French cohort of 94 patients with genotyped KS. Renal function was evaluated based on the estimated glomerular filtration rate. A genotype-phenotype study was conducted for renal and urinary tract malformations.


Renal malformations were present in 22% of cases, and urinary tract anomalies were present in 15%. Renal malformations were observed in 28% of the MLL2 mutation-positive group and in 0% of the MLL2 mutation-negative group (P = .015). No correlation was found between the presence or absence of renal or urinary tract malformations and the location or type of MLL2 mutation. Renal function was normal except for 1 patient with a MLL2 mutation diagnosed in the first days of life and severe renal disease due to unilateral renal agenesia and controlateral severe hypoplasia that progressed to the terminal stage at age 2 years.


Our study emphasizes the need for ultrasound and renal function screening in children diagnosed with KS.
Selo DaSilva