Prevalence of low molecular weight proteinuria and Dent disease 1 CLCN5 mutations in proteinuric cohorts.
Adolescent
Child
Chloride Channels
Cohort Studies
Diagnosis, Differential
Genetic Diseases, X-Linked
/ complications
Glomerulosclerosis, Focal Segmental
/ genetics
Humans
Molecular Weight
Mutation
Nephrolithiasis
/ complications
Proteinuria
/ etiology
ROC Curve
Renal Insufficiency, Chronic
/ genetics
CLCN5
Dent disease
FSGS
Low molecular weight proteinuria
Proteinuria
α1-Microglobulin
Journal
Pediatric nephrology (Berlin, Germany)
ISSN: 1432-198X
Titre abrégé: Pediatr Nephrol
Pays: Germany
ID NLM: 8708728
Informations de publication
Date de publication:
04 2020
04 2020
Historique:
received:
09
07
2018
accepted:
04
02
2019
revised:
25
01
2019
pubmed:
11
3
2019
medline:
1
4
2021
entrez:
11
3
2019
Statut:
ppublish
Résumé
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. The following cohorts were screened for CLCN5 mutations: Chronic Kidney Disease in Children (CKiD; n = 112); Multicenter FSGS-Clinical Trial (FSGS-CT) (n = 96), and Novel Therapies for Resistant FSGS Trial (FONT) (n = 30). Urinary α No CLCN5 mutations were detected. TP/Cr was lower in DC and CKiD with tubulointerstitial disease than in DD1 and CKiD with glomerular disease (p < 0.002). α CLCN5 mutations were not seen in screened CKiD/FSGS cohorts. In our study, a cutoff of TP/Cr > 600 mg/g (> 68 mg/mmol) and A/TP of < 0.3 had a high sensitivity and specificity to distinguish DD1 from both CKiD glomerular and tubulointerstitial cohorts. α
Sections du résumé
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 mutations: Chronic Kidney Disease in Children (CKiD; n = 112); Multicenter FSGS-Clinical Trial (FSGS-CT) (n = 96), and Novel Therapies for Resistant FSGS Trial (FONT) (n = 30). Urinary α
RESULTS
No CLCN5 mutations were detected. TP/Cr was lower in DC and CKiD with tubulointerstitial disease than in DD1 and CKiD with glomerular disease (p < 0.002). α
CONCLUSIONS
CLCN5 mutations were not seen in screened CKiD/FSGS cohorts. In our study, a cutoff of TP/Cr > 600 mg/g (> 68 mg/mmol) and A/TP of < 0.3 had a high sensitivity and specificity to distinguish DD1 from both CKiD glomerular and tubulointerstitial cohorts. α
Identifiants
pubmed: 30852663
doi: 10.1007/s00467-019-04210-0
pii: 10.1007/s00467-019-04210-0
pmc: PMC6736764
mid: NIHMS1523615
doi:
Substances chimiques
CLC-5 chloride channel
0
Chloride Channels
0
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
633-640Subventions
Organisme : NIDDK NIH HHS
ID : U54 DK083908
Pays : United States
Organisme : NIDDK NIH HHS
ID : U01 DK066116
Pays : United States
Organisme : NIDDK NIH HHS
ID : U01 DK066174
Pays : United States
Organisme : NIDDK NIH HHS
ID : U24 DK066116
Pays : United States
Organisme : NIDDK NIH HHS
ID : U24 DK082194
Pays : United States
Organisme : NIH HHS
ID : U54KD083908
Pays : United States
Organisme : NIDDK NIH HHS
ID : U01 DK082194
Pays : United States
Organisme : NIDDK NIH HHS
ID : U01 DK066143
Pays : United States
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