Early Onset Gitelman Syndrome: A Case Report

Atmış, Bahriye; Ok, Zahide Orhan; Melek, Engin; Bayazıt, Aysun Karabay; Anarat, Ali

doi:10.12956/tjpd.2018.368

Cited by 1 publication

(1 citation statement)

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“…Herein, we report the first case of Gitelman syndrome in medical literature with both hypocalcaemia and hyponatraemia. Given that most patients present in their adolescence or early adulthood, the age of presentation being 50 years is another unique feature of this case 5…”

Section: Introductionmentioning

confidence: 96%

Hypocalcaemia and hyponatraemia masquerading the diagnosis of Gitelman syndrome

2019

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Gitelman syndrome is the most common renal tubulopathy, recently exhibiting a dramatic rise of incidence in Asia.A 50-year-old woman presented with vomiting, fatigue and quadriparesis. Physical examination revealed a positive Trousseau sign , hypotonia and areflexia.Suspecting hypocalcaemia, she was given intravenous 10% calcium gluconate (10 mL administered slowly over 10 min) but her manifestations persisted. An exhaustive laboratory work up revealed the diagnosis of Gitelman syndrome.The peculiarity of this case however, is entailed in its coexistence with hypocalcaemia and hyponatraemia. In addition, the age of primary presentation being 50 years further culminates its atypicality.Multiple electrolyte imbalances were corrected by oral and intravenous supplementation and a high sodium-potassium diet was advocated. Administration of spironolactone imposed a pitfall in the management of our patient due to exacerbation of pre-existing hyponatraemia.On follow-up, her electrolyte profile was stable and corresponding symptoms were alleviated.

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Section: Introductionmentioning

confidence: 96%