[Gitelman综合征的出现严重低钙血症和hypokalemic周期性瘫痪)。

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戴王跑XW, C、F,江泽民JJ,通西北,李XJ,梁生理改变

[Gitelman综合征的出现严重低钙血症和hypokalemic周期性瘫痪)。

四川达雪雪宝易雪禁令。2005年7月,36 (4):583 - 7。

PubMed ID

16078592 (在PubMed

]

文摘

历史和临床发现:一个63岁的女性因疲劳,全身不适,paraesthesiae、肌肉痉挛和四肢无力的症状。从13岁,她患有短暂下肢瘫痪3次。历史是不起眼的。没有疾病的家族史。此外,她拒绝任何形式的自我药疗,秘密的利尿剂和泻药滥用,持续的呕吐和腹泻。血压120/70毫米汞柱,体重指数= 23.0 kg / m2, WHR = 0.84。有点焦虑。体检的结果忽略。颅神经功能都完好无损。人工肌肉测试显示她的四肢在正常状态。 Sensation was normal in all modalities. The deep tendon reflexes were present but decreased mildly. INVESTIGATIONS: Laboratory tests showed moderate to severe hypokalemia with a serum potassium concentration of 2.77 to 3.17 mmol/L, hypomagnesemia (0.31-0.35 mmol/L), hypocalcaemia (1.79-1.99 mmol/L), hypocalciuria (0.12-1.10 mmol/24 h), and metabolic alkalosis. The patient had elevated plasma renin activity and normoaldosteronism; her parathyroid hormone level was normal. Urinary calcium to creatinine ratio was (5.17-23.57) x 10(-3) mg/mg Cr. The renal clearance studies in this patient using furosemide or hydrochlorothiazide disclosed that urine volume and chloride clearance (CCL) were increased after furosemide administration, but there was no obvious change after the administration of hydrochlorothiazide. Furthermore, the distal fractional chloride reabsorption [CH2O/(CH2O+CCI)] was dramatically decreased by furosemide administration, whereas thiazide had little effect on it. These findings pointed to the presence of a non-functional thiazide-sensitive sodium/chloride cotransporter in the distal convoluted tubule, so the diagnosis of Gitelman's syndrome (GS) was made. TREATMENT: The patient was treated with indomethacin 50 mg, tid; after 3 days, the potassium increased, but calcium and magnesium serum levels failed to improve. So triamterene 50 mg, tid was also administrated. After 4 days, the serum levels of potassium, calcium were normalized, and the serum levels of magnesium increased from 0.35 mmol/L to 0.52 mmol/L; weakness and fatigue improved markedly, the clinical symptoms disappeared. The 18-month-follow-up study found the magnesium serum level normal. CONCLUSION: GS may be present with severe hypocalcaemia and hypokalemic periodic paralysis; the renal clearance studies by diuretic administration may be of help in diagnosing Gitelman's syndrome, and the combined use of indomethacin with triamterene has good therapeutic effect.

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药物	目标	类	生物	药理作用	行动
氢氯噻嗪	溶质载体家庭12成员3	蛋白质	人类	是的	抑制剂	细节