title: Charcot-Marie-Tooth: are you testing for proteinuria?
abstract: Charcot-Marie-Tooth disease (CMT) is a clinically and genetically heterogeneous group of inherited disorders affecting motor and sensory nerves of the peripheral nervous system. CMT has been reported to be associated with renal diseases, mostly focal segmental glomerulosclerosis (FSGS). However, it was unknown whether these two clinical manifestations represent one common underlying disorder or separate disease entities. Several reports have shown a high prevalence of mutations (75%) in the inverted formin gene (INF2) in patients with CMT-associated glomerulopathy, suggesting that these mutations are a common cause of the dual phenotype. For this reason, we strongly suggest to screen for proteinuria in CMT patients, in order to identify patients with this renal-neurologic phenotype in an early stage, and to perform genetic testing for INF2 mutations.
authors.affiliation: Department of Paediatric Nephrology, University Hospitals Leuven, Leuven, Belgium; Laboratory of Paediatrics, Department of Development and Regeneration, KU Leuven, Belgium. Electronic address: stephanie.derechter@uzleuven.be.
authors.forename: Stéphanie
authors.initials: S
authors.lastname: De Rechter
authors.affiliation: Department of Paediatric Neurology, University Hospitals Leuven, Leuven, Belgium; Department of Development and Regeneration, KU Leuven @ Kulak, Belgium.
authors.forename: Liesbeth
authors.initials: L
authors.lastname: De Waele
authors.affiliation: Department of Paediatric Nephrology, University Hospitals Leuven, Leuven, Belgium; Laboratory of Paediatrics, Department of Development and Regeneration, KU Leuven, Belgium.
authors.forename: Elena
authors.initials: E
authors.lastname: Levtchenko
authors.affiliation: Department of Paediatric Nephrology, University Hospitals Leuven, Leuven, Belgium; Laboratory of Paediatrics, Department of Development and Regeneration, KU Leuven, Belgium.
authors.forename: Djalila
authors.initials: D
authors.lastname: Mekahli
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis* / Q000235:genetics / Q000652:urine; D002648:Child; D002675:Child, Preschool; D000080865:Formins; D006801:Humans; D008840:Microfilament Proteins / Q000235:genetics; D011507:Proteinuria / Q000175:diagnosis* / Q000209:etiology; D055815:Young Adult
chemical_list: D000080865:Formins; C546959:INF2 protein, human; D008840:Microfilament Proteins
keywords: Charcot–Marie–Tooth disease; Focal segmental glomerulosclerosis; INF2; Proteinuria