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Publication Information
Affiliation
Nephrology Division, Department of Medicine and Pediatrics, New York University Langone Health and New York University School of Medicine, New York, NY, USA. lada.bearalasic@nyumc.org.; Rare Kidney Stone Consortium, Rochester, USA.; Rare Kidney Stone Consortium, Rochester, USA.; Rare Kidney Stone Consortium, Rochester, USA.; Rare Kidney Stone Consortium, Rochester, USA.; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.; Department of Pediatrics, Children's Hospital of Philadelphia, University of Pennsylvania Perelman, School of Medicine, Philadelphia, PA, USA.; Nephrology Division, Department of Medicine and Pediatrics, New York University Langone Health and New York University School of Medicine, New York, NY, USA.; Geisinger Commonwealth School of Medicine, Scranton, PA, USA.; Rare Kidney Stone Consortium, Rochester, USA.; Nephrology Division, Department of Medicine and Pediatrics, New York University Langone Health and New York University School of Medicine, New York, NY, USA.; Rare Kidney Stone Consortium, Rochester, USA.; Rare Kidney Stone Consortium, Rochester, USA.
Authors
Beara-Lasic Lada, Cogal Andrea, Mara Kristin, Enders Felicity, Mehta Ramila A, Haskic Zejfa, Furth Susan L, Trachtman Howard, Scheinman Steven J, Milliner Dawn S, Goldfarb David S, Harris Peter C, Lieske John C
Studies
Abstract
Dent disease type 1 (DD1) is a rare X-linked disorder caused mainly by CLCN5 mutations. Patients may present with nephrotic-range proteinuria leading to erroneous diagnosis of focal segmental glomerulosclerosis (FSGS) and unnecessary immunosuppressive treatments.