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Tophaceous gout in a young man with Gitelman syndrome: a case report with an overview

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Abstract

Gitelman syndrome represents the clinical manifestations of inactivation of the Slc12a3 genes encoding the thiazide-sensitive sodium chloride cotransporter and the Trpm6-Mg genes encoding the magnesium transporters in the distal convoluted tubule. In fact, the biochemical findings resemble those with thiazide diuretics such as hypokalemia, hypomagnesaemia, hypocalciuria, metabolic alkalosis, and low normal blood pressure. He is usually associated with calcium pyrophosphate deposition. Serum uricemia level is rarely affected in Gitelman syndrome. We aimed to report a rare association of chronic gout with Gitelman syndrome, hence the interest of our case. We describe a 29-year-old male patient with a history of Gitelman syndrome associated with articular gout including pelvic localization. We provided pictorial evidence of extensive and diffuse monosodium urate deposition in articular and periarticular structures to confirm the gout origin. A literature review illustrates 4 reported cases of Gitelman syndrome associated with gout. The gender distribution was equal with a mean age of 40 years.

Key Points

• Gouty arthritis and Gitelman syndrome is a rare association.

• Gitelman syndrome may be a new risk factor for the development of gout, due to its thiazide-like effect.

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Authors and Affiliations

  1. Rheumatology Department, Charles Nicolle Hospital, Boulevard du 9 Avril 1938, 1006, Tunis, Tunisia

    Leila Rouached, Emna Hannech, Olfa Saidane, Aicha Ben Tekaya, Selma Bouden, Rawdha Tekaya, Ines Mahmoud & Leila Abdelmoula

  2. Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia

    Leila Rouached, Emna Hannech, Olfa Saidane, Aicha Ben Tekaya, Selma Bouden, Rawdha Tekaya, Linda Belhaj Kacem, Ines Mahmoud, Soumaya Rammeh & Leila Abdelmoula

  3. Radiolgy Department, Pasteur and Amen Private Hospital, Tunis, Tunisia

    Riadh Jeribi

  4. Pathology Department, Charles Nicolle Hospital, Tunis, Tunisia

    Linda Belhaj Kacem & Soumaya Rammeh

Authors
  1. Leila Rouached
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  2. Emna Hannech
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Contributions

All the authors contributed to the study conception and design.

Emna Hannech and Riadh Jeribi have made substantial contributions to the conception or design of the work; the acquisition, analysis, and interpretation of data for the work.

Leila Rouached revised the work critically for important intellectual content.

Aicha Ben Tekaya and Selma Bouden have made substantial contributions to the acquisition, analysis, and interpretation of data for the work.

Rawdha Tekaya, Linda Belhaj Kacem, Ines Mahmoud, and Olfa Saidane have given their agreement to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.

Leila Abdelmoula and Soumaya Rammeh approved the final version to be published.

Corresponding author

Correspondence to Leila Rouached.

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Ethics approval

Our locally appointed ethics committee “Charles Nicolle Hospital local committee” has approved the research protocol and informed consent has been obtained from the subject.

Human and animal rights

Our study complies with the Declaration of Helsinki.

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Written informed consent was obtained from the patient.

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Rouached, L., Hannech, E., Jeribi, R. et al. Tophaceous gout in a young man with Gitelman syndrome: a case report with an overview. Clin Rheumatol 42, 285–291 (2023). https://doi.org/10.1007/s10067-022-06361-2

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  • DOI: https://doi.org/10.1007/s10067-022-06361-2

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