Open AccessPrevalence of low molecular weight proteinuria and Dent disease 1 CLCN5 mutations in proteinuric cohorts
Author(s) -
Lada Beara-Lasić,
Andrea G. Cogal,
Kristin C. Mara,
Felicity Enders,
Ramila A. Mehta,
Zejfa Haskic,
Susan L. Furth,
Howard Trachtman,
Steven J. Scheinman,
Dawn S. Milliner,
David S. Goldfarb,
Peter C. Harris,
John C. Lieske
Publication year - 2019
Publication title -
pediatric nephrology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.831
H-Index - 107
eISSN - 1432-198X
pISSN - 0931-041X
DOI - 10.1007/s00467-019-04210-0
Subject(s) - medicine , focal segmental glomerulosclerosis , proteinuria , kidney disease , renal function , nephrotic syndrome , urology , kidney
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.