Gitelman syndrome associated with chondrocalcinosis and severe neuropathy: a novel heterozygous mutation in SLC12A3 gene

  • E. Conticini | conticini.edoardo@gmail.com Rheumatology 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 Emilia, Italy.
  • A. Negro Department of Medicine, Center for Hypertension, IRCCS Arcispedale S. Maria Nuova, Reggio Emilia, Italy.
  • L. Magnani Unit of Rheumatology, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
  • R. Ugolini Unit of Rheumatology, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
  • B. Atienza-Mateo Unit of Rheumatology, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy; Rheumatology, Hospital Universitario Marqués de Valdecilla, IDIVAL, Universidad de Cantabria, Santander, Spain.
  • B. Frediani Rheumatology Unit, Department of Medical Sciences, Surgery and Neurosciences, Università di Siena, Policlinico Le Scotte, Siena, Italy.
  • C. Salvarani Unit of Rheumatology, Università di Modena e Reggio Emilia, Modena, Italy.

Abstract

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.

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Published
2020-04-10
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Section
Case Reports
Keywords:
Gitelman, chondrocalcinosis, tubulopathy, neuropathy.
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How to Cite
Conticini, E., Negro, A., Magnani, L., Ugolini, R., Atienza-Mateo, B., Frediani, B., & Salvarani, C. (2020). Gitelman syndrome associated with chondrocalcinosis and severe neuropathy: a novel heterozygous mutation in SLC12A3 gene. Reumatismo, 72(1), 67-70. https://doi.org/10.4081/reumatismo.2020.1255