RESUMO
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.
Assuntos
Anormalidades Múltiplas/diagnóstico , Doenças Hematológicas/diagnóstico , Rim/anormalidades , Doenças Vestibulares/diagnóstico , Anormalidades Múltiplas/sangue , Anormalidades Múltiplas/genética , Anormalidades Múltiplas/fisiopatologia , Adolescente , Adulto , Biomarcadores/sangue , Criança , Pré-Escolar , Estudos de Coortes , Creatinina/sangue , Proteínas de Ligação a DNA/genética , Face/anormalidades , Face/fisiopatologia , Feminino , França , Estudos de Associação Genética , Marcadores Genéticos , Técnicas de Genotipagem , Taxa de Filtração Glomerular , Doenças Hematológicas/sangue , Doenças Hematológicas/genética , Doenças Hematológicas/fisiopatologia , Histona Desmetilases/genética , Humanos , Lactente , Rim/diagnóstico por imagem , Rim/metabolismo , Rim/fisiopatologia , Masculino , Proteínas de Neoplasias/genética , Proteínas Nucleares/genética , Estudos Retrospectivos , Ultrassonografia , Doenças Vestibulares/sangue , Doenças Vestibulares/genética , Doenças Vestibulares/fisiopatologia , Adulto JovemRESUMO
OBJECTIVE: To evaluate the applicability of 3-dimensional evaluation of renal vascularization for predicting postnatal renal function in fetuses with suspected urinary obstruction. STUDY DESIGN: Fetuses were evaluated by 3-dimensional power-Doppler histogram, and vascular indices were estimated. Depth between the probe and the renal cortex was also evaluated. Postnatal follow-up was obtained in all cases and the main outcome was renal impairment. RESULTS: Twenty-three fetuses with urinary dilatation (cases) and 73 with normal renal morphology (controls) were included in the current study. Five (21.7%) cases developed renal impairment. Vascularization index and vascularization and flow index were significantly lower in fetuses that developed renal impairment compared with those with normal renal function (P = .009 and P = .036, respectively). The 3 vascular indexes correlated with depth. Percentage of depth-corrected vascularization index and vascularization flow index were lower in fetuses developing postnatal renal failure. CONCLUSION: Fetal renal vascularity (vascularization index and vascularization and flow index) was significantly lower in fetuses that developed renal impairment.