Clinical and molecular spectrum of renal malformations in Kabuki syndrome.
J Pediatr
; 163(3): 742-6, 2013 Sep.
Article
en En
| MEDLINE
| ID: mdl-23535010
ABSTRACT
OBJECTIVE:
To determine the frequency and types of renal malformations, and to evaluate renal function in a cohort of patients with Kabuki syndrome (KS). STUDYDESIGN:
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.Palabras clave
Texto completo:
1
Colección:
01-internacional
Asunto principal:
Anomalías Múltiples
/
Enfermedades Vestibulares
/
Enfermedades Hematológicas
/
Riñón
Tipo de estudio:
Diagnostic_studies
/
Etiology_studies
/
Incidence_studies
/
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
País/Región como asunto:
Europa
Idioma:
En
Revista:
J Pediatr
Año:
2013
Tipo del documento:
Article
País de afiliación:
Francia