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Pediatric Nephrology
Published in: Pediatric Nephrology 10/2017

Open Access 01-10-2017 | Review

Proteinuria in Dent disease: a review of the literature

Authors: Youri van Berkel, Michael Ludwig, Joanna A. E. van Wijk, Arend Bökenkamp

Published in: Pediatric Nephrology | Issue 10/2017

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Abstract

Background

Dent disease is a rare X-linked recessive proximal tubulopathy caused by mutations in CLCN5 (Dent-1) or OCRL (Dent-2). As a rule, total protein excretion (TPE) is low in tubular proteinuria compared with glomerular disease. Several authors have reported nephrotic-range proteinuria (NP) and glomerulosclerosis in Dent disease. Therefore, we aimed to analyze protein excretion in patients with documented CLCN5 or OCRL mutations in a systematic literature review.

Design

PubMed and Embase were searched for cases with documented CLCN5 or OCRL mutations and (semi-)quantitative data on protein excretion. The most reliable data (i.e., TPE > protein–creatinine ratio > Albustix) was used for NP classification.

Results

Data were available on 148 patients from 47 reports: 126 had a CLCN5 and 22 an OCRLmutation. TPE was not significantly different between both forms (p = 0.11). Fifty-five of 126 (43.7 %) Dent-1 vs 13/22 (59.1 %) Dent-2 patients met the definition of NP (p = 0.25). Serum albumin was normal in all reported cases (24/148). Glomerulosclerosis was noted in 20/32 kidney biopsies and was strongly related to tubulointerstitial fibrosis, but not to kidney function or proteinuria.

Conclusion

More than half of the patients with both forms of Dent disease have NP, and the presence of low molecular weight proteinuria in a patient with NP in the absence of edema and hypoalbuminemia should prompt genetic testing. Even with normal renal function, glomerulosclerosis and tubulointerstitial fibrosis are present in Dent disease. The role of proteinuria in the course of the disease needs to be examined further in longitudinal studies.
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Metadata
Title
Proteinuria in Dent disease: a review of the literature
Authors
Youri van Berkel
Michael Ludwig
Joanna A. E. van Wijk
Arend Bökenkamp
Publication date
01-10-2017
Publisher
Springer Berlin Heidelberg
Published in
Pediatric Nephrology / Issue 10/2017
Print ISSN: 0931-041X
Electronic ISSN: 1432-198X
DOI
https://doi.org/10.1007/s00467-016-3499-x

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