Chen Hanjiang, Ma Rong, Du Hongzhe, Liu Jin, Jin Li
Department of Paediatrics, First Teaching Hospital of Tianjin University of Traditional Chinese Medicine, 88 Changling Road, Xiqing district, Tianjin, 300000, China.
BMC Pediatr. 2020 Aug 5;20(1):366. doi: 10.1186/s12887-020-02265-9.
Hypokalaemia is a common condition among paediatric patients, but severe hypokalaemia is rare and can be life-threatening if not treated properly. The causes of hypokalaemia are complex. Finding the root cause is the key.
This article reports on a 2-year-old boy with severe hypokalaemia who was diagnosed with pneumonia. The child's lab findings were low blood potassium minimum level of 1.7 mmol/L, hypomagnesemia, and metabolic alkalosis. However, he was without the common features of hypokalaemia, such as respiratory paralysis, severe arrhythmia, weakness and decreased blood pressure. After recovering from pneumonia, his potassium levels did not return to normal. This outcome was suspected to be due to chronic renal loss of potassium. After undergoing second-generation gene sequencing tests, it was discovered he carried the SLC12A3 gene mutation with an Asp486Asn mutation site, which he had inherited from his mother. The final diagnosis was made, confirming the child suffered from Gitelman syndrome.
Genetic predisposition is an important cause of hypokalaemia in children. Children with unexplained persistent hypokalaemia should be examined for the possibility of Gitelman syndrome, which should be distinguished from Bartter syndrome. Genetic testing is the gold standard.
低钾血症在儿科患者中较为常见，但严重低钾血症较为罕见，若治疗不当可能危及生命。低钾血症的病因复杂，找到根本原因是关键。
本文报道了一名2岁患有严重低钾血症的男孩，他被诊断为肺炎。患儿实验室检查结果显示血钾最低水平为1.7 mmol/L、低镁血症和代谢性碱中毒。然而，他没有低钾血症的常见特征，如呼吸麻痹、严重心律失常、肌无力和血压下降。肺炎康复后，他的血钾水平未恢复正常。这一结果怀疑是由于钾的慢性肾脏丢失所致。经过二代基因测序检测，发现他携带SLC12A3基因突变，突变位点为Asp486Asn，该突变基因来自其母亲。最终确诊该患儿患有吉特林综合征。
遗传易感性是儿童低钾血症的重要原因。对于不明原因的持续性低钾血症患儿，应检查是否患有吉特林综合征，该综合征应与巴特综合征相鉴别。基因检测是金标准。
