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钙无反应性低钙血症性手足搐搦:伴有低钙血症的吉特曼综合征。

Calcium unresponsive hypocalcemic tetany: gitelman syndrome with hypocalcemia.

作者信息

Desai Madhav, Kolla Praveen Kumar, Reddy P L Venkata Pakki

机构信息

Department of Nephrology, Narayana Medical College, Chintareddypalem, Nellore, Andhra Pradesh 524003, India.

出版信息

Case Rep Med. 2013;2013:197374. doi: 10.1155/2013/197374. Epub 2013 Sep 19.

Abstract

Introduction. Gitelman's syndrome (GS) is autosomal recessive renal tubular disorder characterized by hypokalemia, hypomagnesemia, hypocalciuria, metabolic alkalosis, and hyperreninemic hyperaldosteronism. It is usually associated with normal serum calcium. We report a patient presented with hypocalcemic tetany, and evaluation showed Gitelman's syndrome with hypocalcemia. Case Report. A 28-year-old woman presented with cramps of the arms, legs, fatigue, and carpal spasms of one week duration. She has history of similar episodes on and off for the past two years. Her blood pressure was 98/66 mmHg. Chvostek's sign and Trousseau's sign were positive. Evaluation showed hypokalemia, hypocalcemia, hypomagnesemia, metabolic alkalosis, and hypocalciuria. Self-medication, diuretic use, laxative abuse, persistent vomiting, and diarrhoea were ruled out. Urinary prostaglandins and genetic testing could not be done because of nonavailability. To differentiate Gitelman syndrome from Bartter's syndrome (BS), thiazide loading test was done. It showed blunted fractional chloride excretion. GS was confirmed and patient was treated with spironolactone along with magnesium, calcium, and potassium supplementation. Symptomatically, she improved and did not develop episodes of tetany again. Conclusion. In tetany patient along with serum calcium measurement, serum magnesium, serum potassium, and arterial blood gases should be measured. Even though hypocalcemia in Gitelman syndrome is rare, it still can occur.

摘要

引言。吉特曼综合征(GS)是一种常染色体隐性遗传性肾小管疾病,其特征为低钾血症、低镁血症、低钙尿症、代谢性碱中毒以及高肾素性醛固酮增多症。通常血清钙水平正常。我们报告一例出现低钙性手足搐搦的患者,评估显示为伴有低钙血症的吉特曼综合征。病例报告。一名28岁女性,出现手臂、腿部痉挛、疲劳以及持续一周的腕部痉挛。在过去两年中她有过类似发作的病史。她的血压为98/66 mmHg。Chvostek征和Trousseau征阳性。评估显示低钾血症、低钙血症、低镁血症、代谢性碱中毒以及低钙尿症。排除了自我用药、使用利尿剂、滥用泻药、持续性呕吐和腹泻。由于无法进行,未进行尿前列腺素和基因检测。为了将吉特曼综合征与巴特综合征(BS)相鉴别,进行了噻嗪类负荷试验。结果显示氯排泄分数降低。确诊为吉特曼综合征,患者接受螺内酯治疗,并补充镁、钙和钾。症状上,她有所改善,未再出现手足搐搦发作。结论。对于手足搐搦患者,除了测量血清钙外,还应测量血清镁、血清钾和动脉血气。尽管吉特曼综合征中低钙血症罕见,但仍可能发生。

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