Chen Shi-Yuan, Jie Ning
Department of Endocrinology, Longhua Central Hospital, Shenzhen 518110, Guangdong Province, China.
World J Clin Cases. 2022 Jun 16;10(17):5893-5898. doi: 10.12998/wjcc.v10.i17.5893.
Gitelman syndrome (GS) is an autosomal recessive salt-losing renal tubulopathy arising from mutations in the thiazide-sensitive Na-Cl cotransporter gene. Due to its low incidence and lack of awareness, GS can be easily misdiagnosed or missed in diagnosis.
A 24-year-old male presented with > 4 years of repeated limb weakness without any treatment. The previous day, the patient was bitten by ants and showed weakness of the lower limbs. The patient had hypokalemia (1.66-2.83 mmol/L), hypomagnesemia (0.4 mmol/L), hypocalciuria (1.51-2.46 mmol/d), metabolic alkalosis (7.47-7.54), normal blood pressure, and increased activity of aldosterone and plasma renin activity (PRA) (PRA 6.4 and 16.45 ng/mL/h and aldosterone 330.64 and 756.82 pg/mL in the supine and upright position, respectively). In addition, gene mutation with GS was diagnosed. Oral and intravenous supplementation with potassium and magnesium was initiated. Serum magnesium returned to 0.48 mmol/L and serum potassium returned to 3.08 mmol/L, alleviating the patient's fatigue symptoms.
GS should be considered in patients with hypokalemia complicated with hypomagnesemia. Genetic testing is essential to confirm the diagnosis.
吉特林综合征（GS）是一种常染色体隐性遗传性失盐性肾小管病，由噻嗪类敏感型钠氯共转运体基因突变引起。由于其发病率低且认识不足，GS在诊断中容易被误诊或漏诊。
一名24岁男性，反复肢体无力4年余，未接受任何治疗。前一天，患者被蚂蚁叮咬后出现下肢无力。患者存在低钾血症（1.66 - 2.83 mmol/L）、低镁血症（0.4 mmol/L）、低钙尿症（1.51 - 2.46 mmol/d）、代谢性碱中毒（7.47 - 7.54），血压正常，醛固酮活性及血浆肾素活性（PRA）升高（仰卧位和直立位时PRA分别为6.4和16.45 ng/mL/h，醛固酮分别为330.64和756.82 pg/mL）。此外，诊断为GS基因突变。开始口服及静脉补充钾和镁。血清镁恢复至0.48 mmol/L，血清钾恢复至3.08 mmol/L，患者乏力症状缓解。
低钾血症合并低镁血症的患者应考虑GS。基因检测对于确诊至关重要。
