Renal Cystinuria and Immune Cells (T Lymphocytes) Dysfunction: What We Know about?

Introduction: Cystinuria (CYS) is the most common monogenic kidney stone disease. Methods: Starting from an unusual case of CYS associated to primary sclerosing cholangitis, inflammatory bowel disease (IBD), and autoimmune hepatitis in a young male, we carefully review the literature and propose here a working hypothesis regarding the potential risk of cystinuric patients to develop conditions due to immune system dysregulation. To corroborate this hypothesis, we retrospectively evaluate the frequency of dysimmunity in a monocentric cohort including 36 cystinuric patients compared to healthy and disease controls. Results: CYS patients have an increased prevalence of atopic disease compared to disease controls (p = 0.03) and 16.7% of CYS subjects were diagnosed with allergic disease to a variety of antigens. Conclusion: Further studies are needed to define the relationship between proximal tubular transport defect of CYS and dysregulated immunity.