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Published on: February 3, 2012
Clinical and molecular spectrum of renal malformations in Kabuki syndrome
Jean-Benoît Courcet1, Laurence Faivre, Caroline Michot
1Pediatrics 1 and Medical Genetics, Center of Reference for Developmental Abnormalities and Malformative Syndromes, Children's Hospital, University of Burgundy, Dijon, France.
Objective:
To determine the frequency and types of renal malformations, and to evaluate renal function in a cohort of patients with Kabuki syndrome (KS).
Study Design:
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.
Results:
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.
Conclusion:
Our study emphasizes the need for ultrasound and renal function screening in children diagnosed with KS.
