Proteinuria in Dent disease: a review of the literature
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) an...
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Published in | Pediatric nephrology (Berlin, West) Vol. 32; no. 10; pp. 1851 - 1859 |
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Main Authors | , , , |
Format | Journal Article |
Language | English |
Published |
Berlin/Heidelberg
Springer Berlin Heidelberg
01.10.2017
Springer Springer Nature B.V |
Subjects | |
Online Access | Get full text |
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Summary: | 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
OCRL
mutation. 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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ISSN: | 0931-041X 1432-198X |
DOI: | 10.1007/s00467-016-3499-x |