A case of Gitelman syndrome: our experience with a patient treated in clinical practice on a local island
- VernacularTitle:A case of Gitelman syndrome: our experience with a patient treated in clinical practice on a local island
- Author:
Takashi CHINEN
1
;
Eiji SAEKI
2
;
Takayasu MORI
3
;
Eisei SOHARA
4
;
Shinichi UCHIDA
4
;
Tetsu AKIMOTO
4
Author Information
- Keywords: Gitelman syndrome; thiazide-sensitive Na-Cl cotransporter; hypomagnesemia; hypokalemic metabolic alkalosis; proteinuria
- From:Journal of Rural Medicine 2019;14(2):258-262
- CountryJapan
- Language:English
- Abstract: Background: Gitelman syndrome (GS) is an autosomal recessive salt-losing renal tubulopathy resulting from mutations in the thiazide-sensitive Na-Cl cotransporter (NCC) gene. Notably, lack of awareness regarding GS and difficulty with prompt diagnosis are observed in clinical practice, particularly in rural settings.Case presentation: We report a case of a 48-year-old man with GS who presented to a local clinic on a remote island. Occasional laboratory investigations incidentally revealed a reduced serum potassium level of 2.6 mmol/L. A careful medical interview revealed episodes of intermittent paralysis of the lower extremities and muscular weakness for >30 years. Subsequent laboratory investigations revealed hypomagnesemia, hypocalciuria, and hypokalemic metabolic alkalosis. Based on the patient’s history, clinical presentation, and laboratory investigations, we suspected GS. Genetic testing revealed a rare homozygous in-frame 18 base insertion in the NCC gene that might have resulted from the founder effect, consequent to his topographically isolated circumstances.Conclusion: More case studies similar to our study need to be added to the literature to gain a deeper understanding of the functional consequences of this mutation and to establish optimal management strategies for this condition, particularly in rural clinical settings.
