An example of Precision Medicine : possible common molecular mechanisms of disease in a child with Familiar Nephrotic Syndrome and Autism Spectrum Disorder : a proposal of pharmacological treatment

Abstract

In precision medicine, the focus is on identifying which approaches will be effective for which patients based on genetic, environmental, and lifestyle factors. We present the case of 10 years old child diagnosed with an autism spectrum disorder (ASD) and a corticosensitive, relapsing nephrotic syndrome (NS). When treated with high doses of glucocorticoids for each NS outbreak, the behavioral alterations related to his ASD improved significantly. As we identify an specific genetic alteration in ACTN4, implied not only in the pathogenesis of the NS but also in the cerebral architecture, being included in the genetic panels for the study of ASD, we intend to justify the possible mechanisms that explain the response to glucocorticoid treatment. Based in our rationale, we propose a therapeutic alternative, which could resemble the effects of the corticoid treatment without the secondary effects linked to glucocorticoids.