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2020, Number 1

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Acta Med 2020; 18 (1)

Gitelman syndrome in older adult

García LA, Echartea TME, Montoya CEA, García LAE
Full text How to cite this article 10.35366/92004

DOI

DOI: 10.35366/92004
URL: https://dx.doi.org/10.35366/92004

Language: Spanish
References: 6
Page: 71-75
PDF size: 146.11 Kb.


Key words:

Gitelman syndrome.

ABSTRACT

Gitelman syndrome, initially described in 1966, also known as hypokalemia-hypomagnesemia familial syndrome, is a renal tubulopathy characterized by metabolic alkalosis with hypokalemia, associated with significant hypomagnesemia and decreased urinary calcium secretion. We present the clinical case an 82-year-old female with pulmonary and digestive tract morbidities, in which the hydroelectrolitic status control was difficult due to persistently negative water balances associated with metabolic alkalosis, hyponatremia, severe hypokalemia, hypomagnesemia and hypocalcemia, and decreased retention of urinary electrolytes. Therefore, the incidental diagnosis was reached made of being a carrier of Gitelman syndrome, due to the difficulty in controlling alteration of the hydroelectrolitic status.


REFERENCES

  1. Gitelman HJ, Graham JB, Welt LG. A new familial disorder characterized by hypokalemia and hypomagnesemia. Trans Assoc Am Phys. 1966; 79: 221-235.

  2. Knoers NV, Levtchenko EN. Gitelman syndrome. Orphanet J Rare Dis. 2008; 3: 22-23.

  3. Lee JW, Lee J, Heo NJ, Cheong HI, Han JS. Mutations in SLC12A3 and CLCNKB and their correlation with clinical phenotype in patients with Gitelman and Gitelman-like syndrome. J Korean Med Sci. 2016; 31: 47-54.

  4. Nakhoul F1, Nakhoul N, Dorman E, Berger L, Skorecki K, Magen D. Gitelman’s syndrome: a pathophysiological and clinical update. Endocrine. 2012; 41: 53-57.

  5. Blanchard A, Bockenhauer D, Bolignano D, Calò LA, Cosyns E, Devuyst O et al. Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference. Kidney Int. 2017; 91: 24-33.

  6. Dinna N, Cruz A, Shaer M, Bias, Lifton R, Simon DB. Gitelman’s syndrome revisited: An evaluation of symptoms and health-related quality of life. Kidney Intl. 2001; 59: 710-717.




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C?MO CITAR (Vancouver)

Acta Med. 2020;18