Recurrent hypokalemia in an adult male: A case report on gitelman’s syndrome
- Author:
Ralph Philip C. Nierre, MD
1
;
Bayani Pocholo T. Maglinte, MD
1
;
Jeremyjones F. Robles, MD
1
,
2
Author Information
- Publication Type:Case Reports
- MeSH: Gitelman’s Syndrome; Paraparesis; Hypokalemia; Hypomagnesemia; Spironolactone; Case Report
- From: Philippine Journal of Internal Medicine 2023;61(2):72-76
- CountryPhilippines
- Language:English
-
Abstract:
Introduction:Gitelman Syndrome (GS), a rare autosomal recessive inherited disorder, is frequently unrecognized in the
clinical setting. GS typically manifests with severe hypokalemia with debilitating and potentially fatal consequences if
untreated. As of writing, confirmatory genetic assays are currently unavailable in the country, and the diagnosis of GS is
primarily based on several biochemical laboratory tests. This results in the difficulty with prompt diagnosis of GS in the
locality.
Case:We present a 52-year-old male who came in with chronic, intermittent paraparesis associated with persistent hypokalemia. A diagnosis of GS was made biochemically based on renal wasting of potassium and magnesium, hypocalciuria, and metabolic alkalosis. Electrolyte correction with lifelong supplementation, and administration of Spironolactone resulted in the resolution of bilateral leg weakness. Electrolyte levels were maintained within normal limits in the outpatient setting.
Conclusion:GS is an uncommon potentially debilitating disorder that may lead to problematic, potentially fatal consequences to electrolyte abnormalities if left untreated. The lack of awareness and consequent delay in the diagnosis, and the unavailability of confirmatory genetic testing remains a clinical challenge. Timely recognition and initiation of treatment leads to early control of electrolyte levels, and better prognosis. - Full text:PJIM 7.pdf
