Clinical manifestation and genetic findings in three boys with low molecular Weight Proteinuria - three case reports for exploring Dent Disease and Fanconi syndrome

Clinical manifestation and genetic findings in three boys with low molecular Weight Proteinuria - three case reports for exploring Dent Disease and Fanconi syndrome

Abstract Background Dent disease is an X-linked form of progressive renal disease. This rare disorder was characterized by hypercalciuria, low molecular weight (LMW) proteinuria and proximal tubular dysfunction, caused by pathogenic variants in CLCN5 (Dent disease 1) or OCRL (Dent disease 2) genes....

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Bibliographic Details
Main Authors: Nan Duan, Chenwei Huang, Lu Pang, Shiju Jiang, Wenshuang Yang, Haixia Li
Format: Article
Language:English
Published: BMC 2021-01-01
Series:BMC Nephrology
Subjects:
Dent disease
Fanconi syndrome
Low molecular weight proteinuria
Genetic analysis
Case report
Online Access:https://doi.org/10.1186/s12882-020-02225-6

Internet

https://doi.org/10.1186/s12882-020-02225-6

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