A Rare Case of Gitelman Syndrome Revealed by Chronic Tophaceous Gout

Hanaa El Moutaouakil; Kawtar Nassar; Soukaina Zaher; Saadia Janani

doi:doi:10.11648/j.ijcems.20220804.13

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A Rare Case of Gitelman Syndrome Revealed by Chronic Tophaceous Gout

Hanaa El Moutaouakil, Kawtar Nassar, Soukaina Zaher, Saadia Janani

Published in International Journal of Clinical and Experimental Medical Sciences (Volume 8, Issue 4)

Received: 2 August 2022 Accepted: 23 August 2022 Published: 31 August 2022

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Abstract

Background: The most common complications of non-treated chronic hyperuricemia are tophaceous gout and kidney impairment with metabolic acidosis. Metabolic alkalosis and hypomagnesemia are unusual during gout. We report the case of a woman with chronic tophaceous gout that revealed Gitelman syndrome. Case report: A 40-year-old woman was complaining of chronic joint pain and swelling for 7 years, complicated by the occurrence of tophi, in a context of impaired general condition. The diagnosis of chronic tophaceous gout was made based on physical examination and elevated serum uric acid level and radiological features. The discovery of Gitelman syndrome was made based on hydro-electrolytic disorders and arterial gasometry, revealing hypokalemia, hypochloremia, hypomagnesemia, and metabolic alkalosis. The patient was admitted and stabilized in an intensive care unit, and then she has been referred to us. Tophaceous gout was treated with a xanthine oxydase inhibitor (allopurinol) and the ionic disorders were corrected with potassium and magnesium supplementation. Conclusion: Gitelman syndrome is a rare inherited tubulopathy characterized by renal loss of sodium and potassium associated with hypomagnesemia and metabolic alkalosis. It can also expose, in the long term, the development of calcium pyrophosphate deposition disease, as a consequence of low magnesium levels. However, the association of gout and Gitelman syndrome is rare but possible given that this syndrome simulates thiazide diuretics intake, and that may be the main mechanism of the occurrence of gout in this case.

Published in	International Journal of Clinical and Experimental Medical Sciences (Volume 8, Issue 4)
DOI	10.11648/j.ijcems.20220804.13
Page(s)	62-64
Creative Commons	This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited.
Copyright	Copyright © The Author(s), 2024. Published by Science Publishing Group

Keywords

Severe Gout, Tophus, Gitelman Syndrome

References

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[2]	Hyperuricemia in arterial hypertension: what implication?  [Internet]. Revue Medicale Suisse. [cited 2022 Jul 14]. Available from: https://www.revmed.ch/revue-medicale-suisse/2005/revue-medicale-suisse-32/l-hyperuricemie-dans-l-hypertension-arterielle-quelle-implication
[3]	Khanna D, Fitzgerald JD, Khanna PP, Bae S, Singh MK, Neogi T, et al. 2012 American College of Rheumatology guidelines for management of gout. Part 1: systematic nonpharmacologic and pharmacologic therapeutic approaches to hyperuricemia. Arthritis Care Res (Hoboken). Oct 2012; 64 (10): 1431-46.
[4]	Saag KG, Mikuls TR, Abbott J. The epidemiology of gout and calcium pyrophosphate dihydrate deposition disease. In: Crystal-induced arthropathies. CRC Press; 2006. p. 25-54.
[5]	Chalès G. From hyperuricemia to gout: epidemiology of gout. Revue du rhumatisme. 2011; 78: S109–15.
[6]	Simon DB, Nelson-Williams C, Johnson Bia M, Ellison D, Karet FE, Morey Molina A, et al. Gitelman’s variant of Barter’s syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na–Cl cotransporter. Nat Genet. Janv 1996; 12 (1): 24-30.
[7]	Bhat YR, Vinayaka G, Sreelakshmi K. Antenatal Bartter syndrome: a review. International journal of pediatrics. 2012; 2012.
[8]	Ducarme G, Davitian C, Uzan M, Belenfant X, Poncelet C. Pregnancy in a patient with Gitelman syndrome: a case report and review of literature. Journal de gynécologie obstétrique et biologie de la reproduction. 2007; 36 (3): 310–3.
[9]	Blanchard A, Courand PY, Livrozet M, Vargas-Poussou R. [Bartter-Gitelman syndromes]. Nephrol Ther. 2020 Jul; 16 (4): 233–43.
[10]	Colussi G, Bettinelli A, Tedeschi S, De Ferrari ME, Syrén ML, Borsa N, et al. A thiazide test for the diagnosis of renal tubular hypokalemic disorders. Clinical Journal of the American Society of Nephrology. 2007; 2 (3): 454-60.
[11]	Park MG, Lee JH, Kim SJ, Park SH, Park SK, Choi JS, et al. Rheumatoid arthritis accompanied by Gitelman syndrome. Yeungnam University Journal of Medicine. 2017; 34 (1): 101-5.
[12]	Masab M, Goyal A, Abrol S, Rangaswami J. Acquired Gitelman Syndrome associated with systemic sclerosis. Cureus. 2019; 11 (1).
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[14]	Troster SM, Raizman JE, Rubin L. An unusual case of gout in a young woman with gitelman syndrome. The Journal of Rheumatology. 2016; 43 (11): 2085-7.
[15]	Case Report: Does a Young Woman with Gitelman Syndrome Have Gout? [Internet]. The Rheumatologist. [cité 13 juill 2022]. Disponible sur: https://www.the-rheumatologist.org/article/case-report-does-young-woman-with-gitelman-syndrome-have-gout/
[16]	Moulay Berkchi J, Rkain H, Benbrahim L, Aktaou S, Lazrak N, Faiz S, et al. Management of gout by Moroccan rheumatologists: a Moroccan Society for Rheumatology National Survey. Rheumatology International. 2020; 40 (9): 1399-408.
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APA Style

Hanaa El Moutaouakil, Kawtar Nassar, Soukaina Zaher, Saadia Janani. (2022). A Rare Case of Gitelman Syndrome Revealed by Chronic Tophaceous Gout. International Journal of Clinical and Experimental Medical Sciences, 8(4), 62-64. https://doi.org/10.11648/j.ijcems.20220804.13

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ACS Style

Hanaa El Moutaouakil; Kawtar Nassar; Soukaina Zaher; Saadia Janani. A Rare Case of Gitelman Syndrome Revealed by Chronic Tophaceous Gout. Int. J. Clin. Exp. Med. Sci. 2022, 8(4), 62-64. doi: 10.11648/j.ijcems.20220804.13

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AMA Style

Hanaa El Moutaouakil, Kawtar Nassar, Soukaina Zaher, Saadia Janani. A Rare Case of Gitelman Syndrome Revealed by Chronic Tophaceous Gout. Int J Clin Exp Med Sci. 2022;8(4):62-64. doi: 10.11648/j.ijcems.20220804.13

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@article{10.11648/j.ijcems.20220804.13,
  author = {Hanaa El Moutaouakil and Kawtar Nassar and Soukaina Zaher and Saadia Janani},
  title = {A Rare Case of Gitelman Syndrome Revealed by Chronic Tophaceous Gout},
  journal = {International Journal of Clinical and Experimental Medical Sciences},
  volume = {8},
  number = {4},
  pages = {62-64},
  doi = {10.11648/j.ijcems.20220804.13},
  url = {https://doi.org/10.11648/j.ijcems.20220804.13},
  eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ijcems.20220804.13},
  abstract = {Background: The most common complications of non-treated chronic hyperuricemia are tophaceous gout and kidney impairment with metabolic acidosis. Metabolic alkalosis and hypomagnesemia are unusual during gout. We report the case of a woman with chronic tophaceous gout that revealed Gitelman syndrome. Case report: A 40-year-old woman was complaining of chronic joint pain and swelling for 7 years, complicated by the occurrence of tophi, in a context of impaired general condition. The diagnosis of chronic tophaceous gout was made based on physical examination and elevated serum uric acid level and radiological features. The discovery of Gitelman syndrome was made based on hydro-electrolytic disorders and arterial gasometry, revealing hypokalemia, hypochloremia, hypomagnesemia, and metabolic alkalosis. The patient was admitted and stabilized in an intensive care unit, and then she has been referred to us. Tophaceous gout was treated with a xanthine oxydase inhibitor (allopurinol) and the ionic disorders were corrected with potassium and magnesium supplementation. Conclusion: Gitelman syndrome is a rare inherited tubulopathy characterized by renal loss of sodium and potassium associated with hypomagnesemia and metabolic alkalosis. It can also expose, in the long term, the development of calcium pyrophosphate deposition disease, as a consequence of low magnesium levels. However, the association of gout and Gitelman syndrome is rare but possible given that this syndrome simulates thiazide diuretics intake, and that may be the main mechanism of the occurrence of gout in this case.},
 year = {2022}
}

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TY  - JOUR
T1  - A Rare Case of Gitelman Syndrome Revealed by Chronic Tophaceous Gout
AU  - Hanaa El Moutaouakil
AU  - Kawtar Nassar
AU  - Soukaina Zaher
AU  - Saadia Janani
Y1  - 2022/08/31
PY  - 2022
N1  - https://doi.org/10.11648/j.ijcems.20220804.13
DO  - 10.11648/j.ijcems.20220804.13
T2  - International Journal of Clinical and Experimental Medical Sciences
JF  - International Journal of Clinical and Experimental Medical Sciences
JO  - International Journal of Clinical and Experimental Medical Sciences
SP  - 62
EP  - 64
PB  - Science Publishing Group
SN  - 2469-8032
UR  - https://doi.org/10.11648/j.ijcems.20220804.13
AB  - Background: The most common complications of non-treated chronic hyperuricemia are tophaceous gout and kidney impairment with metabolic acidosis. Metabolic alkalosis and hypomagnesemia are unusual during gout. We report the case of a woman with chronic tophaceous gout that revealed Gitelman syndrome. Case report: A 40-year-old woman was complaining of chronic joint pain and swelling for 7 years, complicated by the occurrence of tophi, in a context of impaired general condition. The diagnosis of chronic tophaceous gout was made based on physical examination and elevated serum uric acid level and radiological features. The discovery of Gitelman syndrome was made based on hydro-electrolytic disorders and arterial gasometry, revealing hypokalemia, hypochloremia, hypomagnesemia, and metabolic alkalosis. The patient was admitted and stabilized in an intensive care unit, and then she has been referred to us. Tophaceous gout was treated with a xanthine oxydase inhibitor (allopurinol) and the ionic disorders were corrected with potassium and magnesium supplementation. Conclusion: Gitelman syndrome is a rare inherited tubulopathy characterized by renal loss of sodium and potassium associated with hypomagnesemia and metabolic alkalosis. It can also expose, in the long term, the development of calcium pyrophosphate deposition disease, as a consequence of low magnesium levels. However, the association of gout and Gitelman syndrome is rare but possible given that this syndrome simulates thiazide diuretics intake, and that may be the main mechanism of the occurrence of gout in this case.
VL  - 8
IS  - 4
ER  -

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Author Information

Hanaa El Moutaouakil

Department of Rheumatology, Faculty of Medicine and Pharmacy of Casablanca, Hassan II University, Casablanca, Morocco
Kawtar Nassar

Department of Rheumatology, Faculty of Medicine and Pharmacy of Casablanca, Hassan II University, Casablanca, Morocco
Soukaina Zaher

Department of Rheumatology, Faculty of Medicine and Pharmacy of Casablanca, Hassan II University, Casablanca, Morocco
Saadia Janani

Department of Rheumatology, Faculty of Medicine and Pharmacy of Casablanca, Hassan II University, Casablanca, Morocco

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APA Style

Hanaa El Moutaouakil, Kawtar Nassar, Soukaina Zaher, Saadia Janani. (2022). A Rare Case of Gitelman Syndrome Revealed by Chronic Tophaceous Gout. International Journal of Clinical and Experimental Medical Sciences, 8(4), 62-64. https://doi.org/10.11648/j.ijcems.20220804.13

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ACS Style

Hanaa El Moutaouakil; Kawtar Nassar; Soukaina Zaher; Saadia Janani. A Rare Case of Gitelman Syndrome Revealed by Chronic Tophaceous Gout. Int. J. Clin. Exp. Med. Sci. 2022, 8(4), 62-64. doi: 10.11648/j.ijcems.20220804.13

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AMA Style

Hanaa El Moutaouakil, Kawtar Nassar, Soukaina Zaher, Saadia Janani. A Rare Case of Gitelman Syndrome Revealed by Chronic Tophaceous Gout. Int J Clin Exp Med Sci. 2022;8(4):62-64. doi: 10.11648/j.ijcems.20220804.13

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@article{10.11648/j.ijcems.20220804.13,
  author = {Hanaa El Moutaouakil and Kawtar Nassar and Soukaina Zaher and Saadia Janani},
  title = {A Rare Case of Gitelman Syndrome Revealed by Chronic Tophaceous Gout},
  journal = {International Journal of Clinical and Experimental Medical Sciences},
  volume = {8},
  number = {4},
  pages = {62-64},
  doi = {10.11648/j.ijcems.20220804.13},
  url = {https://doi.org/10.11648/j.ijcems.20220804.13},
  eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ijcems.20220804.13},
  abstract = {Background: The most common complications of non-treated chronic hyperuricemia are tophaceous gout and kidney impairment with metabolic acidosis. Metabolic alkalosis and hypomagnesemia are unusual during gout. We report the case of a woman with chronic tophaceous gout that revealed Gitelman syndrome. Case report: A 40-year-old woman was complaining of chronic joint pain and swelling for 7 years, complicated by the occurrence of tophi, in a context of impaired general condition. The diagnosis of chronic tophaceous gout was made based on physical examination and elevated serum uric acid level and radiological features. The discovery of Gitelman syndrome was made based on hydro-electrolytic disorders and arterial gasometry, revealing hypokalemia, hypochloremia, hypomagnesemia, and metabolic alkalosis. The patient was admitted and stabilized in an intensive care unit, and then she has been referred to us. Tophaceous gout was treated with a xanthine oxydase inhibitor (allopurinol) and the ionic disorders were corrected with potassium and magnesium supplementation. Conclusion: Gitelman syndrome is a rare inherited tubulopathy characterized by renal loss of sodium and potassium associated with hypomagnesemia and metabolic alkalosis. It can also expose, in the long term, the development of calcium pyrophosphate deposition disease, as a consequence of low magnesium levels. However, the association of gout and Gitelman syndrome is rare but possible given that this syndrome simulates thiazide diuretics intake, and that may be the main mechanism of the occurrence of gout in this case.},
 year = {2022}
}

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TY  - JOUR
T1  - A Rare Case of Gitelman Syndrome Revealed by Chronic Tophaceous Gout
AU  - Hanaa El Moutaouakil
AU  - Kawtar Nassar
AU  - Soukaina Zaher
AU  - Saadia Janani
Y1  - 2022/08/31
PY  - 2022
N1  - https://doi.org/10.11648/j.ijcems.20220804.13
DO  - 10.11648/j.ijcems.20220804.13
T2  - International Journal of Clinical and Experimental Medical Sciences
JF  - International Journal of Clinical and Experimental Medical Sciences
JO  - International Journal of Clinical and Experimental Medical Sciences
SP  - 62
EP  - 64
PB  - Science Publishing Group
SN  - 2469-8032
UR  - https://doi.org/10.11648/j.ijcems.20220804.13
AB  - Background: The most common complications of non-treated chronic hyperuricemia are tophaceous gout and kidney impairment with metabolic acidosis. Metabolic alkalosis and hypomagnesemia are unusual during gout. We report the case of a woman with chronic tophaceous gout that revealed Gitelman syndrome. Case report: A 40-year-old woman was complaining of chronic joint pain and swelling for 7 years, complicated by the occurrence of tophi, in a context of impaired general condition. The diagnosis of chronic tophaceous gout was made based on physical examination and elevated serum uric acid level and radiological features. The discovery of Gitelman syndrome was made based on hydro-electrolytic disorders and arterial gasometry, revealing hypokalemia, hypochloremia, hypomagnesemia, and metabolic alkalosis. The patient was admitted and stabilized in an intensive care unit, and then she has been referred to us. Tophaceous gout was treated with a xanthine oxydase inhibitor (allopurinol) and the ionic disorders were corrected with potassium and magnesium supplementation. Conclusion: Gitelman syndrome is a rare inherited tubulopathy characterized by renal loss of sodium and potassium associated with hypomagnesemia and metabolic alkalosis. It can also expose, in the long term, the development of calcium pyrophosphate deposition disease, as a consequence of low magnesium levels. However, the association of gout and Gitelman syndrome is rare but possible given that this syndrome simulates thiazide diuretics intake, and that may be the main mechanism of the occurrence of gout in this case.
VL  - 8
IS  - 4
ER  -

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