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吉特曼综合征伴低钙性手足搐搦和低钾性周期性麻痹。

Gitelman's syndrome presenting with hypocalcemic tetany and hypokalemic periodic paralysis.

作者信息

Gandhi Kunal, Prasad Dharmendra, Malhotra Vinay, Agrawal Dhananjai

机构信息

Department of Nephrology, Sawai Man Singh Hospital, Jaipur, Rajasthan, India.

出版信息

Saudi J Kidney Dis Transpl. 2016 Sep-Oct;27(5):1026-1028. doi: 10.4103/1319-2442.190881.

DOI:10.4103/1319-2442.190881
PMID:27752015
Abstract

Gitelman's syndrome is an autosomal recessive renal tubular disorder characterized by hypomagnesemia, hypokalemia, hypocalciuria, and metabolic alkalosis. Hypocalcemic tetany as a presentation of Gitelman's syndrome has rarely been reported in literature. We report a rare case of Gitelman's syndrome presenting with hypocalcemic tetany along with hypokalemic periodic paralysis. A 17-year-old female was admitted to our hospital with a history of perioral numbness and carpal spasms of five days duration with progressive quadriparesis developing over a period of few hours. Past history was significant for three episodes of transient lower limb weakness. On examination, blood pressure was 110/70 mm Hg. Chvostek's sign and Trousseau's sign were positive. Neurologically, she was fully oriented. She had Grade 3 power in all the four limbs with intact sensation. Laboratory tests showed hypocalcemia (7.8 mg/dL), hypokalemia (2.2 mEq/L), hypomagnesemia (0.9 mEq/L), and hypocalciuria (104 mg/day). Arterial blood gas showed mild metabolic alkalosis with respiratory compensation. Thus, a clinical diagnosis of GS was made. The patient made a remarkable recovery after the correction of electrolyte imbalance. The aim of this case report is to re-emphasize the fact that hypocalcemia can rarely occur in Gitelman's syndrome.

摘要

吉特曼综合征是一种常染色体隐性遗传性肾小管疾病,其特征为低镁血症、低钾血症、低钙尿症和代谢性碱中毒。文献中鲜有关于以低钙血症性手足搐搦为表现的吉特曼综合征的报道。我们报告一例罕见的以低钙血症性手足搐搦合并低钾性周期性麻痹为表现的吉特曼综合征病例。一名17岁女性因口周麻木和腕部痉挛5天入院,数小时内逐渐发展为进行性四肢瘫。既往史有3次短暂性下肢无力发作。体格检查时,血压为110/70 mmHg。Chvostek征和Trousseau征阳性。神经系统检查,她意识完全清醒。四肢肌力3级,感觉正常。实验室检查显示低钙血症(7.8 mg/dL)、低钾血症(2.2 mEq/L)、低镁血症(0.9 mEq/L)和低钙尿症(104 mg/天)。动脉血气分析显示轻度代谢性碱中毒伴呼吸代偿。因此,作出了吉特曼综合征的临床诊断。纠正电解质失衡后,患者恢复良好。本病例报告的目的是再次强调吉特曼综合征中很少会出现低钙血症这一事实。

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Gitelman's syndrome presenting with hypocalcemic tetany and hypokalemic periodic paralysis.吉特曼综合征伴低钙性手足搐搦和低钾性周期性麻痹。
Saudi J Kidney Dis Transpl. 2016 Sep-Oct;27(5):1026-1028. doi: 10.4103/1319-2442.190881.
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[A case of Gitelman's syndrome presenting with the hypokalemic periodic paralysis].1例以低钾性周期性麻痹为表现的吉特曼综合征病例
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Pediatr Rep. 2021 Dec 1;13(4):632-638. doi: 10.3390/pediatric13040075.
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Hyperemesis Gravidarum With Paraparesis and Tetany.妊娠剧吐伴双下肢轻瘫和手足搐搦
Cureus. 2021 Aug 9;13(8):e17014. doi: 10.7759/cureus.17014. eCollection 2021 Aug.
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Gitelman Syndrome: A Rare Cause of Seizure Disorder and a Systematic Review.吉特林综合征:癫痫发作障碍的罕见病因及系统评价
Case Rep Med. 2019 Feb 5;2019:4204907. doi: 10.1155/2019/4204907. eCollection 2019.
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Hypocalcaemia and hyponatraemia masquerading the diagnosis of Gitelman syndrome.低钙血症和低钠血症掩盖了吉特曼综合征的诊断。
BMJ Case Rep. 2019 Jan 28;12(1):bcr-2018-227886. doi: 10.1136/bcr-2018-227886.