TY - JOUR AU - Conticini, E. AU - Negro, A. AU - Magnani, L. AU - Ugolini, R. AU - Atienza-Mateo, B. AU - Frediani, B. AU - Salvarani, C. PY - 2020/04/10 Y2 - 2024/03/29 TI - Gitelman syndrome associated with chondrocalcinosis and severe neuropathy: a novel heterozygous mutation in SLC12A3 gene JF - Reumatismo JA - Reumatismo VL - 72 IS - 1 SE - Case Reports DO - 10.4081/reumatismo.2020.1255 UR - https://www.reumatismo.org/reuma/article/view/1255 SP - 67-70 AB - <p>Gitelman syndrome (GS) is an inherited salt-wasting tubulopathy characterized by hypocalciuria, hypokalemia, hypomagnesemia and metabolic alkalosis, due to inactivating mutations in the <em>SLC12A3</em> gene. Symptoms may be systemic, neurological, cardiovascular, ophthalmological or musculoskeletal. We describe a 70 year-old patient affected by recurrent arthralgias, hypoesthesia and hyposthenia in all 4 limbs and severe hypokalemia, complicated by atrial flutter. Moreover, our patient reported eating large amounts of licorice, and was treated with medium-high dosages of furosemide, thus making diagnosis very challenging. Genetic analysis demonstrated a novel heterozygous mutation in the <em>SLC12A3</em> gene; therefore, we diagnosed GS and started potassium and magnesium replacement. GS combined with chondrocalcinosis and neurological involvement is quite common, but this is the first case of an EMG-proven severe neuropathy associated with GS. Herein, we underline the close correlation between hypomagnesemia, chondrocalcinosis and neurological involvement. Moreover, we report a new heterozygous mutation in exon 23 (2738G&gt;A), supporting evidence of a large genetic heterogeneity in this late-onset congenital tubulopathy.</p> ER -