Nail-patella-like renal disease masquerading as Fabry disease on kidney biopsy: a case report

Nail-patella-like renal disease masquerading as Fabry disease on kidney biopsy: a case report

Abstract Background Genetic changes in the LIM homeobox transcription factor 1 beta (LMX1B) have been associated with focal segmental glomerulosclerosis (FSGS) without the extra-renal or ultrastructural manifestations of Nail-patella syndrome (NPS) known as Nail-patella-like renal disease (NPLRD). F...

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Bibliographic Details
Main Authors: Filippo Pinto e Vairo, Pavel N. Pichurin, Fernando C. Fervenza, Samih H. Nasr, Kevin Mills, Christopher T. Schmitz, Eric W. Klee, Sandra M. Herrmann
Format: Article
Language:English
Published: BMC 2020-08-01
Series:BMC Nephrology
Subjects:
Fabry disease
LMX1B
Nail-patella-like renal disease
Individualized medicine
Online Access:http://link.springer.com/article/10.1186/s12882-020-02012-3

Internet

http://link.springer.com/article/10.1186/s12882-020-02012-3

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