Gitelman syndrome associated with chondrocalcinosis and severe neuropathy: a novel heterozygous mutation in SLC12A3 gene
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 desc...
| Main Authors: | , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
PAGEPress Publications
2020-04-01
|
| Series: | Reumatismo |
| Subjects: | |
| Online Access: | https://www.reumatismo.org/index.php/reuma/article/view/1255 |
| _version_ | 1811234244320559104 |
|---|---|
| author | E. Conticini A. Negro L. Magnani R. Ugolini B. Atienza-Mateo B. Frediani C. Salvarani |
| author_facet | E. Conticini A. Negro L. Magnani R. Ugolini B. Atienza-Mateo B. Frediani C. Salvarani |
| author_sort | E. Conticini |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-12T11:34:31Z |
| format | Article |
| id | doaj.art-9d506de087ff42cdbf9d8a752db4981d |
| institution | Directory Open Access Journal |
| issn | 0048-7449 2240-2683 |
| language | English |
| last_indexed | 2024-04-12T11:34:31Z |
| publishDate | 2020-04-01 |
| publisher | PAGEPress Publications |
| record_format | Article |
| series | Reumatismo |
| spelling | doaj.art-9d506de087ff42cdbf9d8a752db4981d2022-12-22T03:34:54ZengPAGEPress PublicationsReumatismo0048-74492240-26832020-04-0172110.4081/reumatismo.2020.1255Gitelman syndrome associated with chondrocalcinosis and severe neuropathy: a novel heterozygous mutation in SLC12A3 geneE. Conticini0A. Negro1L. Magnani2R. Ugolini3B. Atienza-Mateo4B. Frediani5C. Salvarani6Rheumatology Unit, Department of Medical Sciences, Surgery and Neurosciences, Università di Siena, Policlinico Le Scotte, Siena, Italy; Unit of Rheumatology, Azienda USL-IRCCS di Reggio Emilia, Reggio EmiliaDepartment of Medicine, Center for Hypertension, IRCCS Arcispedale S. Maria Nuova, Reggio EmiliaUnit of Rheumatology, Azienda USL-IRCCS di Reggio Emilia, Reggio EmiliaUnit of Rheumatology, Azienda USL-IRCCS di Reggio Emilia, Reggio EmiliaUnit of Rheumatology, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy; Rheumatology, Hospital Universitario Marqués de Valdecilla, IDIVAL, Universidad de Cantabria, SantanderRheumatology Unit, Department of Medical Sciences, Surgery and Neurosciences, Università di Siena, Policlinico Le Scotte, SienaUnit of Rheumatology, Università di Modena e Reggio Emilia, ModenaGitelman 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.https://www.reumatismo.org/index.php/reuma/article/view/1255Gitelmanchondrocalcinosistubulopathyneuropathy. |
| spellingShingle | E. Conticini A. Negro L. Magnani R. Ugolini B. Atienza-Mateo B. Frediani C. Salvarani Gitelman syndrome associated with chondrocalcinosis and severe neuropathy: a novel heterozygous mutation in SLC12A3 gene Reumatismo Gitelman chondrocalcinosis tubulopathy neuropathy. |
| title | Gitelman syndrome associated with chondrocalcinosis and severe neuropathy: a novel heterozygous mutation in SLC12A3 gene |
| title_full | Gitelman syndrome associated with chondrocalcinosis and severe neuropathy: a novel heterozygous mutation in SLC12A3 gene |
| title_fullStr | Gitelman syndrome associated with chondrocalcinosis and severe neuropathy: a novel heterozygous mutation in SLC12A3 gene |
| title_full_unstemmed | Gitelman syndrome associated with chondrocalcinosis and severe neuropathy: a novel heterozygous mutation in SLC12A3 gene |
| title_short | Gitelman syndrome associated with chondrocalcinosis and severe neuropathy: a novel heterozygous mutation in SLC12A3 gene |
| title_sort | gitelman syndrome associated with chondrocalcinosis and severe neuropathy a novel heterozygous mutation in slc12a3 gene |
| topic | Gitelman chondrocalcinosis tubulopathy neuropathy. |
| url | https://www.reumatismo.org/index.php/reuma/article/view/1255 |
| work_keys_str_mv | AT econticini gitelmansyndromeassociatedwithchondrocalcinosisandsevereneuropathyanovelheterozygousmutationinslc12a3gene AT anegro gitelmansyndromeassociatedwithchondrocalcinosisandsevereneuropathyanovelheterozygousmutationinslc12a3gene AT lmagnani gitelmansyndromeassociatedwithchondrocalcinosisandsevereneuropathyanovelheterozygousmutationinslc12a3gene AT rugolini gitelmansyndromeassociatedwithchondrocalcinosisandsevereneuropathyanovelheterozygousmutationinslc12a3gene AT batienzamateo gitelmansyndromeassociatedwithchondrocalcinosisandsevereneuropathyanovelheterozygousmutationinslc12a3gene AT bfrediani gitelmansyndromeassociatedwithchondrocalcinosisandsevereneuropathyanovelheterozygousmutationinslc12a3gene AT csalvarani gitelmansyndromeassociatedwithchondrocalcinosisandsevereneuropathyanovelheterozygousmutationinslc12a3gene |