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RESEARCH PRODUCT
Clinical and molecular spectrum of renal malformations in Kabuki syndrome.
Christine BinquetJean-benoît CourcetValérie Cormier-daireMarjolaine WillemsSylvain PoissonBrigitte Gilbert-dussardierElodie SanchezRémi SalomonMarie Ange DelrueSylvie OdentEudeline AlixAnnick ToutainAurélia JaquetteClarisse BaumannLe Quan Sang Kim-hanDamien SanlavilleAnna PeletHonorine KayirangwaLaurence FaivreMartine Le MerrerChristiane MoussonAlice GoldenbergMarie-pierre CordierMarie-line JacquemontAnne MonclaStéphanie Perez-martinCaroline MichotSandrine VinaultJoelle RoumeFrédéric HuetDidier LacombeLucille PinsonCatherine Vincent-delormeStanislas LyonnetMarianne TillDavid GenevièvePierre SardaAntoine BurguetNicole PhilipJeanne Amielsubject
MalePathologyGenotyping Techniquesurologic and male genital diseasesKidneyCohort Studieschemistry.chemical_compoundChildUltrasonographyHistone Demethylases0303 health sciencesKidney030305 genetics & heredityNuclear ProteinsHypoplasia3. Good healthNeoplasm ProteinsDNA-Binding Proteinsmedicine.anatomical_structureVestibular DiseasesChild PreschoolCreatinineBiological MarkersFemaleFranceAbnormalitiesMultipleCohort studyGlomerular Filtration RateAdultGenetic Markersmedicine.medical_specialtyAdolescentUrinary systemUrologyRenal function03 medical and health sciencesYoung AdultmedicineHumansAbnormalities MultiplePreschoolGenetic Association Studies030304 developmental biologyRetrospective StudiesCreatinine[SDV.GEN]Life Sciences [q-bio]/Geneticsbusiness.industryInfantRetrospective cohort studymedicine.diseaseHematologic DiseaseschemistryFacePediatrics Perinatology and Child Healthbusiness[ SDV.GEN ] Life Sciences [q-bio]/GeneticsKabuki syndromeBiomarkersdescription
International audience; 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.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2013-01-01 | The Journal of pediatrics |