Gitelman's Syndrome: Asymptomatic Hypokalaemia in a Chinese Boy

ACC Fu; KP Lee; LCT Tong

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Gitelman's Syndrome: Asymptomatic Hypokalaemia in a Chinese Boy

机译：吉特曼综合征：中国男孩无症状性低钾血症

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Gitelman's syndrome is a rare heritable primary renal tubular disorder, characterised by hypokalaemic metabolic alkalosis, hypomagnesaemia and hypocalciuria. Most of them run a benign course. If present, symptoms include fatigue and muscle weakness. Rarely serious symptoms like cardiac arrest have been reported. Treatment is by magnesium supplement, potassium supplement or potassium-sparing diuretics. This report reviews incidental finding of Gitelman syndrome in an asymptomatic teenager and emphasizes clinical, laboratory and molecular features of the disease.

机译：Gitelman综合征是一种罕见的可遗传性原发性肾小管疾病，其特征为低钾血症性代谢性碱中毒，低镁血症和低钙尿症。他们中的大多数人都表现得很好。如果出现症状，则包括疲劳和肌肉无力。很少有严重的症状，如心脏骤停。通过补充镁，补充钾或保留钾的利尿剂进行治疗。该报告回顾了无症状少年吉特曼综合症的偶然发现，并强调了该疾病的临床，实验室和分子特征。

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《Hong Kong Journal of Paediatrics》 |2013年第3期|共4页
作者
ACC Fu; KP Lee; LCT Tong;
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中图分类儿科学;
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1. Gitelman Syndrome A Rare Case of Hypokalaemia and a Novel Mutation [J] . Maria Clara Novais de Matos, Fábio Correia, Maria Inês Silva, European Journal of Case Reports in Internal Medicine . 2021,第1期

机译：Gitelman综合征是一种罕见的低钾血症和一种新颖的突变
2. Early onset children’s Gitelman syndrome with severe hypokalaemia: a case report [J] . Hanjiang Chen, Rong Ma, Hongzhe Du, BMC Pediatrics . 2020,第1期

机译：早期发病儿童的Gitelman综合征具有严重的低钾血症：案例报告
3. Gitelman Syndrome: A Cause for Recurrent Hypokalaemia with Tetany [J] . Lakshmi Narayanan Balasubramani, Sujay Iyer Journal of Clinical and Diagnostic Research . 2020,第4期

机译：Gitelman综合征：具有Tetany的经常性低钾血症的原因
4. Time, frequency and information domain analysis of heart period and QT variability in asymptomatic long QT syndrome type 2 patients [C] . Bari Vlasta, Girardengo Giulia, Marchi Andrea, Annual International Conference of the IEEE Engineering in Medicine and Biology Society . 2015

机译：无症状长QT综合征2型患者的心脏周期和QT变异性的时间，频率和信息域分析
5. The relationship of repetitive behavior and sensory behavior to parenting stress in mothers of boys with autism and mothers of boys with fragile X syndrome [D] . Richardson, Lolita Lisa 2010

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6. Gitelman Syndrome: A Rare Case of Hypokalaemia and a Novel Mutation [O] . Clara Matos, Fábio Correia, Inês Nunes da Silva, 2021

机译：Gitelman综合征：罕见的低钾血症和一种新的突变
7. Gitelman syndrome in a South African family presenting with hypokalaemia and unusual food cravings [O] . Pieter Du Toit van der Merwe, Megan A. Rensburg, William L. Haylett, 2017

机译：南非家庭的吉特曼综合症，表现为低血钾症和不寻常的食物渴望

Gitelman's Syndrome: Asymptomatic Hypokalaemia in a Chinese Boy

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