Prevalence of low molecular weight proteinuria and Dent disease 1 CLCN5 mutations in proteinuric coh...
Prevalence of low molecular weight proteinuria and Dent disease 1 CLCN5 mutations in proteinuric cohorts
About this item
Full title
Author / Creator
investigators of the Rare Kidney Stone Consortium , On behalf of the investigators of the Rare Kidney Stone Consortium , 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. and Lieske, John C.
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title
Language
English
Formats
Publication information
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Subjects
More information
Scope and Contents
Contents
Background
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.
Methods
The following cohorts were screened for
CLCN5
...
Alternative Titles
Full title
Prevalence of low molecular weight proteinuria and Dent disease 1 CLCN5 mutations in proteinuric cohorts
Authors, Artists and Contributors
Author / Creator
On behalf of the investigators of the Rare Kidney Stone Consortium
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.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6736764
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6736764
Other Identifiers
ISSN
0931-041X
E-ISSN
1432-198X
DOI
10.1007/s00467-019-04210-0
