Prevalence of low molecular weight proteinuria and Dent disease 1 CLCN5 mutations in proteinuric cohorts.
Autor: | Beara-Lasic L; Nephrology Division, Department of Medicine and Pediatrics, New York University Langone Health and New York University School of Medicine, New York, NY, USA. lada.bearalasic@nyumc.org.; Rare Kidney Stone Consortium, Rochester, USA. lada.bearalasic@nyumc.org., Cogal A; Rare Kidney Stone Consortium, Rochester, USA.; Division of Nephrology, Department of Medicine and Pediatrics, Mayo Clinic, Rochester, MN, USA., Mara K; Rare Kidney Stone Consortium, Rochester, USA.; Division of Biomedical Statistics and Informatics, Mayo Clinic, Rochester, MN, USA., Enders F; Rare Kidney Stone Consortium, Rochester, USA.; Division of Biomedical Statistics and Informatics, Mayo Clinic, Rochester, MN, USA., Mehta RA; Rare Kidney Stone Consortium, Rochester, USA.; Division of Biomedical Statistics and Informatics, Mayo Clinic, Rochester, MN, USA., Haskic Z; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Furth SL; Department of Pediatrics, Children's Hospital of Philadelphia, University of Pennsylvania Perelman, School of Medicine, Philadelphia, PA, USA., Trachtman H; Nephrology Division, Department of Medicine and Pediatrics, New York University Langone Health and New York University School of Medicine, New York, NY, USA., Scheinman SJ; Geisinger Commonwealth School of Medicine, Scranton, PA, USA., Milliner DS; Rare Kidney Stone Consortium, Rochester, USA.; Division of Nephrology, Department of Medicine and Pediatrics, Mayo Clinic, Rochester, MN, USA., Goldfarb DS; Nephrology Division, Department of Medicine and Pediatrics, New York University Langone Health and New York University School of Medicine, New York, NY, USA.; Rare Kidney Stone Consortium, Rochester, USA., Harris PC; Rare Kidney Stone Consortium, Rochester, USA.; Division of Nephrology, Department of Medicine and Pediatrics, Mayo Clinic, Rochester, MN, USA., Lieske JC; Rare Kidney Stone Consortium, Rochester, USA.; Division of Nephrology, Department of Medicine and Pediatrics, Mayo Clinic, Rochester, MN, USA. |
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Jazyk: | angličtina |
Zdroj: | Pediatric nephrology (Berlin, Germany) [Pediatr Nephrol] 2020 Apr; Vol. 35 (4), pp. 633-640. Date of Electronic Publication: 2019 Mar 10. |
DOI: | 10.1007/s00467-019-04210-0 |
Abstrakt: | 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 |
Databáze: | MEDLINE |
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