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患者,女,63岁,因反复乏力,双下肢瘫痪,双手搐搦50+年,加重2+年入院。查体:P80/min,BP120/70mmHg,BMI23.0kg/m2,WHR0.84,焦虑,四肢肌力正常,膝反射、踝反射轻度减弱。无阳性家族史,无服用利尿剂及泻药史。实验室检查示低血钾(2.77～3.17mmol/L),低血镁(0.31～0.35mmol/L),低血钙(1.79～1.99mmol/L),和低尿钙(0.12～1.10mmol/24h)。血浆肾素活性升高,血浆醛固酮水平正常,PTH水平正常。尿钙及尿肌酐比低(5.17～23.57×10-3mg/mgCr),血气分析显示代谢性碱中毒。在该患者进行的速尿或双氢克尿噻的清除率试验中,使用速尿后其尿量及氯离子的清除率增加,远端肾小管氯离子的重吸收分数降低;而使用双氢克尿噻后以上变化均不明显,提示缺陷位于远曲小管而不是亨利氏襻的厚壁升之段。因此,Gitelman氏综合征(Gitelman’ssyndrome,GS)诊断明确。给予消炎痛50mg,tid治疗3d后,复查患者的血钾水平开始上升,但血镁及血钙水平无明显改善,加用氨苯蝶啶50mg,tid治疗,4d后发现血钾及血钙水平恢复正常,血镁从0.35mmol/L升到0.52mmol/L出院;院外随访18个月,复查血钾、血钙及血镁水平完全恢复正常。GS可伴有严重低钙血症、周期性麻痹,肾脏清除率试验在临床上可帮助诊断,消炎痛及氨苯蝶啶联合应用治疗有效。
Patients, female, 63 years old, due to repeated weakness, paralysis of both lower extremities, convulsions 50 + years, aggravating 2+ year admission. Examination: P80 / min, BP120 / 70mmHg, BMI23.0kg / m2, WHR0.84, anxiety, normal muscle strength, knee reflex, slightly weakened ankle reflex. No positive family history, no diuretic and laxatives. Laboratory tests showed that hypokalemia (2.77-3.17 mmol / L), hypomagnesemia (0.31-0.35 mmol / L), hypocalcemia (1.79-1.99 mmol / L), and low urinary calcium (0.12-1.10 mmol / 24h). Plasma renin activity increased, plasma aldosterone levels were normal, PTH levels were normal. Urinary calcium and urinary creatinine ratio (5.17 ~ 23.57 × 10-3mg / mgCr), blood gas analysis showed metabolic alkalosis. In the case of furosemide or hydrochlorothiazide clearance test in this patient, the urinary output and chloride ion clearance increased after use of furosemide and the re-absorption score of distal tubular chloride decreased; while the use of dihydrogen Urinary thiophene after the above changes are not obvious, suggesting that the defect is located in the distal convoluted tubule instead of thickening of Henry’s thoracic segment. Therefore, Gitelman’s syndrome (Gitelman’s syndrome, GS) diagnosis is clear. Given indomethacin 50mg, tid treatment 3d, the patient’s serum potassium levels began to rise, but the blood magnesium and serum calcium levels did not improve significantly, plus triamterene 50mg, tid treatment, 4d after the discovery of serum potassium and serum calcium levels Returned to normal, blood magnesium increased from 0.35mmol / L to 0.52mmol / L discharged; hospital follow-up 18 months, review of serum potassium, serum calcium and serum magnesium levels returned to normal. GS may be associated with severe hypocalcemia, periodic paralysis, renal clearance test in clinical diagnosis and treatment, indomethacin and triamterene in combination with effective treatment.