Gitelman syndrome associated with chondrocalcinosis and severe neuropathy: a novel heterozygous mutation in SLC12A3 gene
| Autor: | E. Conticini, A. Negro, L. Magnani, R. Ugolini, B. Atienza-Mateo, B. Frediani, C. Salvarani |
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| Jazyk: | English<br />Italian |
| Rok vydání: | 2020 |
| Předmět: | |
| Zdroj: | Reumatismo, Vol 72, Iss 1 (2020) |
| Druh dokumentu: | article |
| ISSN: | 0048-7449 2240-2683 |
| DOI: | 10.4081/reumatismo.2020.1255 |
| Popis: | 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>A), supporting evidence of a large genetic heterogeneity in this late-onset congenital tubulopathy. |
| Databáze: | Directory of Open Access Journals |
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