Objective  To analyze the clinical characteristics and medical treatment of patients with Gitelman syndrome(GS) for further improvement.

  Methods  A retrospective study was conducted on patients with GS hospitalized in Peking Union Medical College Hospital from January, 2008 to December, 2019. Their clinical manifestations, laboratory examinations, pathological features, and drug treatments were summarized. In addition, according to whether spironolactone is used or not, these patients were divided into a simple potassium supplementation group and a spironolactone-combined group. The effect of treatment between the two groups were compared.

  Results  The male to female ratio of 50 patients was 1.5∶1(male: 30, female: 20), and the age at first diagnosis was (30.78±13.99) years old. Among the 50 patients, the most common clinical manifestation was fatigue (54.0%, 27/50), and other clinical manifestations included limb weakness (40.0%, 20/50), limb numbness (26.0%, 13/50), flaccid paralysis (26.0%, 13/50), palpitation (16.0%, 8/50), and nocturia (14.0%, 7/50). At admission, they had serum potassium (2.55±0.45)mmol/L, serum magnesium (0.64± 0.20)mmol/L, 24 h urine potassium (92.25±41.33)mmol, 24 h urine magnesium (3.75±2.14)mmol, and 24 h urine calcium 0.68(0.38, 1.32)mmol. The blood gas analysis Results suggested that most patients had metabolic alkalosis. Seven patients (14.0%, 7/50) underwent renal biopsy, showing 1 case of glomerular mesangial hyperplasia, 5 cases of obvious hyperplasia of juxtaglomerular apparatus, and 1 case of no obvious hyperplasia of juxtaglomerular apparatus. All the 50 patients received oral potassium supplementation of (1.62±1.25)mmol/(kg·d). 46 patients (92.0%, 46/50) were treated with potassium chloride sustained-release tablets (1.5-12 g/d) for potassium supplementation, while 19 patients (38.0%, 19/50) received regimens containing oral solution of 20% potassium citrate (40-200 mL/d, 2-4 times/d). In addition, potassium magnesium aspartate (2-15 tablets/d) was used in 37 patients (74.0%, 37/50), and spironolactone (20-240 mg/d) in 32 patients (64.0%, 32/50). For 2 patients (4.0%, 2/50), calcium and magnesium tablets (3 tablets/d) were applied. To be noted, the increase of serum potassium after treatment in the spironolactone-combined group was significantly higher than that in the simple potassium supplement group (1.07±0.61)mmol/L vs. (0.73±0.59)mmol/L, P < 0.05. At discharge, the serum potassium was (3.49±0.44)mmol/L, and the serum magnesium was (0.67±0.16)mmol/L in 50 patients.

  Conclusions  GS occurs more often in adolescents and adults, but is also witnessed in children. It is characterized most commonly by fatigue, and accompanied by other clinical manifestations like hypokalemia, hypomagnesemia, hypocalciuria, metabolic alkalosis, and renin-angiotensin-aldosterone system activation. Symptomatic treatment is its main therapy, and the combination of spironolactone can improve the effect of potassium supplementation. Patients with GS have favorable prognosis.