Abstract:Objective:To analyze the clinical features of Gitelman syndrome(GS) in order to improve our understanding of this syndrome. Methods:Retrospective study was conducted on 14 cases of GS in past 5 years in Department of Endocrinology, the First Affiliated Hospital of Nanjing Medical University. Results:The age ranged from 13~54(32.9±12.0) years old with 5 males and 9 females. The history ranged from one month to 15 years. Average body mass index (BMI) was (21.0 ± 2.9) kg/m2 while average systolic blood pressure was (109.6 ± 10.8) mmHg and diastolic blood pressure was (69.6 ± 6.7) mmHg. Clinical symptoms included lower extremities weakness, recurrent paralysis, polydipsia, polyuria, nocturia and tetany. Laboratory findings included hypokalemia, hypomagnesaemia, excessive urine potassium, hypocalciuria, metabolic alkalosis. Recumbent-upright tests showed: supine and upright plasma renin activity (PRA) augmentation, angiotensin-Ⅱ (ATⅡ) elevation and hyperaldosteronism. Renal biopsies revealed juxtaglomerular apparatus hyperplasia (3/4). All symptoms were relieved after potassium and magnesium supplementation or with combined spironolactone. However serum potassium(11/14) and magnesium(10/14) levels were still below normal range. Conclusion:The clinical features of GS includes hypokalemia, hypomagnesaemia, hypocalciuria, hypotension and hyperreninemia, high level of ATⅡ, hyperaldosteronism and high pH in arterial blood gas analysis which can be shorten as “four hypos and four hypers”. The treatment of this syndrome includes potassium and magnesium supplementation, or combination with anti-aldosterone medications. Generally, these patients have good prognosis.