{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T09:00:16Z","timestamp":1788858016175,"version":"build-2803163510"},"reference-count":0,"publisher":"PAGEPress Publications","issue":"1","license":[{"start":{"date-parts":[[2020,4,10]],"date-time":"2020-04-10T00:00:00Z","timestamp":1586476800000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Reumatismo"],"abstract":"<jats:p>Gitelman syndrome (GS) is an inherited salt-wasting tubulopathy characterized by hypocalciuria, hypokalemia, hypomagnesemia and metabolic alkalosis, due to inactivating mutations in the SLC12A3 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 SLC12A3 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.<\/jats:p>","DOI":"10.4081\/reumatismo.2020.1255","type":"journal-article","created":{"date-parts":[[2020,4,10]],"date-time":"2020-04-10T20:09:29Z","timestamp":1586549369000},"page":"67-70","source":"Crossref","is-referenced-by-count":9,"title":["Gitelman syndrome associated with chondrocalcinosis and severe neuropathy: a novel heterozygous mutation in SLC12A3 gene"],"prefix":"10.4081","volume":"72","author":[{"given":"E.","family":"Conticini","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Negro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Magnani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Ugolini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"Atienza-Mateo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"Frediani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Salvarani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"2549","published-online":{"date-parts":[[2020,4,10]]},"container-title":["Reumatismo"],"original-title":[],"link":[{"URL":"https:\/\/reumatismo.org\/index.php\/reuma\/article\/download\/1255\/870","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/reumatismo.org\/index.php\/reuma\/article\/download\/1255\/870","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,4,16]],"date-time":"2020-04-16T00:08:32Z","timestamp":1586995712000},"score":1,"resource":{"primary":{"URL":"https:\/\/reumatismo.org\/index.php\/reuma\/article\/view\/1255"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,4,10]]},"references-count":0,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2020,4,10]]}},"URL":"https:\/\/doi.org\/10.4081\/reumatismo.2020.1255","relation":{},"ISSN":["2240-2683","0048-7449"],"issn-type":[{"value":"2240-2683","type":"electronic"},{"value":"0048-7449","type":"print"}],"subject":[],"published":{"date-parts":[[2020,4,10]]}}}