Gitelman syndrome misdiagnosed as Sjögren’s syndrome: a case report

Abstract

This article reported a 38-year-old female patient who was misdiagnosed as Sjögren’s syndrome complicated with type I distal renal tubular acidosis （dRTA） due to recurrent hypokalemia, alkaline urine, elevated urinary potassium, positive antinuclear body（ANA）, and positive anti-SSA antibody. The diagnosis of Sjögren’s syndrome was then excluded because the patient had no obvious dry mouth or dry eyes, and the results of unstimulating saliva flow rate, corneal fluorescence staining, Schirmer secretion test, or labial gland biopsy were all negative. The clinical manifestations, such as metabolic alkalosis, hypochloremia, hypomagnesemia and low urinary calcium,could not support the diagnosis of dRTA. The patient presented with severe hypomagnesemia and a Trousseau sign, then Gitelman syndrome was finally confirmed based on genetic testing. Therefore, the diagnosis and treatment of this case prompted that for patients with recurrent hypokalemia and positive anti-SSA antibody, clinicians should make differential diagnosis based on the acid-base imbalance and the electrolyte disturbance at first, instead of paying too much attention to autoantibodies and Sjögren’s syndrome, to avoid being misled by the ANA and anti-SSA antibody.

Keywords

• |gitelman syndrome|hypokalemia|sjögren’s syndrome|anti-ssa antibody|ana