title: Nephrotic-range Albuminuria as the presenting symptom of Dent-2 disease.
abstract: Dent disease is a rare X-linked tubulopathy with low molecular weight proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis and progressive renal failure. We describe the case of a 9-year-old boy who presented with nephrotic-range albuminuria at the age of 3 years. In the absence of a clear diagnosis, a renal biopsy was performed at 4 years, which revealed minimal change disease. Due to the presence of low molecular weight proteinuria, even in the absence of hypercalciuria, a diagnosis of Dent disease was considered. While there were no mutations in the CLCN5 gene, the diagnosis was confirmed by the presence of a missense mutation (p.Arg318Cys) in the OCRL gene.
  
  
  CONCLUSIONS
  Given the large phenotypic variability of the disease and based on our experience, we believe that children with low molecular weight proteinuria, even without hypercalciuria, should be investigated for Dent disease.
authors.affiliation: Nephrology and Dialysis Unit, Department of Pediatrics, Azienda Ospedaliero-Universitaria Sant'Orsola-Malpighi Bologna, Via Massarenti 11, 40138, Bologna, Italy. chiarademutiis@yahoo.com.
authors.forename: Chiara
authors.initials: C
authors.lastname: De Mutiis
authors.affiliation: Nephrology and Dialysis Unit, Department of Pediatrics, Azienda Ospedaliero-Universitaria Sant'Orsola-Malpighi Bologna, Via Massarenti 11, 40138, Bologna, Italy. andrea.pasini@aosp.bo.it.
authors.forename: Andrea
authors.initials: A
authors.lastname: Pasini
authors.affiliation: Nephrology and Dialysis Unit, Department of Pediatrics, Azienda Ospedaliero-Universitaria Sant'Orsola-Malpighi Bologna, Via Massarenti 11, 40138, Bologna, Italy. clasc1976@gmail.com.
authors.forename: Claudio
authors.initials: C
authors.lastname: La Scola
authors.affiliation: Nephrology and Dialysis Unit, Department of Pediatrics, Azienda Ospedaliero-Universitaria Sant'Orsola-Malpighi Bologna, Via Massarenti 11, 40138, Bologna, Italy. fabrizio.pugliese@yahoo.it.
authors.forename: Fabrizio
authors.initials: F
authors.lastname: Pugliese
authors.affiliation: Nephrology and Dialysis Unit, Department of Pediatrics, Azienda Ospedaliero-Universitaria Sant'Orsola-Malpighi Bologna, Via Massarenti 11, 40138, Bologna, Italy. giovanni.montini@aosp.bo.it.
authors.forename: Giovanni
authors.initials: G
authors.lastname: Montini
mesh_terms: D000419:Albuminuria / Q000150:complications* / Q000175:diagnosis / Q000652:urine; D001706:Biopsy; D002648:Child; D003937:Diagnosis, Differential; D005500:Follow-Up Studies; D040181:Genetic Diseases, X-Linked / Q000150:complications / Q000175:diagnosis* / Q000378:metabolism; D005919:Glomerular Filtration Rate; D006801:Humans; D008297:Male; D053040:Nephrolithiasis / Q000150:complications / Q000175:diagnosis* / Q000378:metabolism