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• PO:19:286 | Genetic testing reveals an unexpected case of mevalonate kinase deficiency in a 37-year-old patient with AA renal amyloidosis and good response to colchicine Francesca Crisafulli¹, Paolo Airò², Federica Mescia³, Gianmarco Lugli³, Gianfranco Savoldi⁴, Claudia Izzi^3|5, Federico Alberici³, Marco Cattalini⁶, Franco Franceschini¹, Micol Frassi². | ¹Rheumatology and Clinical Immunology Unit, ASST Spedali Civili and University of Brescia, Brescia, Italy; ²Rheumatology and Clinical Immunology Unit, ASST Spedali Civili of Brescia, Brescia, Italy; ³U.O Nefrologia, ASST Spedali Civili di Brescia e Università degli Studi di Brescia, Brescia, Italy; ⁴Medical genetics Laboratory, Laboratory Department ASST Spedali Civili di Brescia, Brescia, Italy; ⁵Struttura Complessa di Genetica Clinica, ASST Spedali Civili di Brescia, Brescia, Italy; ⁶Pediatrics Clinic, University of Brescia and ASST Spedali Civili of Brescia, Brescia, Italy.

  Società Italiana di Reumatologia

  25-11-2025

  https://doi.org/10.4081/reumatismo.2025.2049

  193

• Utility of denaturing high performance liquid chromatography (DHPLC) for the diagnosis of mevalonate kinase deficiency in periodic fevers of autoinflammatory nature suspicion

  A. Gava, A. Furlan, F. Navaglia, M. Miorin, M. Razetti, D. Basso, M. Plebani, L. Punzi

  187-196

  https://doi.org/10.4081/reumatismo.2009.187

  1673

  PDF: 1007