Impaired kidney structure and function in spinal muscular atrophy.
Flávia C NeryJennifer J SiranosianIvy A RosalesMarc-Olivier DeguiseAmita SharmaAbdurrahman W MuhtasebPann NweAlec J JohnstoneRen ZhangMaryam FatouraeiNatassja HuemerChristiano R R AlvesRashmi KotharyKathryn J SwobodaPublished in: Neurology. Genetics (2019)
These findings demonstrate that patients with SMA type 1, in the absence of disease-modifying therapies, frequently manifest impaired renal function as a primary or secondary consequence of their disease. This study provides new insights into systemic contributions to SMA disease pathogenesis and the need to identify coadjuvant therapies.
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