| 惠琼琼,师丛,陶仲宾,等.儿童经典型巴特综合征 1例及文献复习[J].安徽医药,2023,27(8):1665-1668. |
| 儿童经典型巴特综合征 1例及文献复习 |
| A case of typical Barter syndrome in a child and review of literature |
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| DOI：10.3969/j.issn.1009-6469.2023.08.038 |
| 中文关键词: 巴特综合征 低钾血症 代谢性碱中毒 基因诊断 |
| 英文关键词: Bartter syndrome Hypokalemia Metabolic alkalosis Genetic diagnosis |
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| 中文摘要: |
| 目的通过对巴特综合征( BS)的诊治经过进一步提高临床医师对该病的认识。方法总结 2021年 1月 8日兰州大学第一医院收治的 1例经典型巴特综合征病人的诊疗方案。结果病儿主因咳嗽 4d，发现电解质紊乱 2d收住入院，入院前后均出现难以纠正的低钾血症、低钠血症、代谢性碱中毒，给予静脉补充电解质及纠正酸碱平衡 1周，每天查血气分析基本未见改善，送检基因检测，临床经验性考虑巴特综合征，予以同时口服螺内酯及枸橼酸钾颗粒 4d后，病儿内环境逐渐恢复，好转出院。出院后其基因检测结果:发现 CLCNKB基因 2-20外显子纯合缺失，其纯合性大片段缺失符合 Ⅲ型 Bartter综合征(父母为近亲婚配)，属新发突变。结论基因检查虽能明确诊断，但结果检出时间相对较慢，可能会延误诊治，故积极提高临床医师对本疾病的认识并给予干预至关重要。 |
| 英文摘要: |
| Objective To further improve clinicians' understanding of Bartter syndrome through diagnosis and treatment of the dis ease.Methods The diagnosis and treatment plan of a patient with typical bartter syndrome admitted to the First Hospital of LanzhouUniversity on January 8, 2021 were summarized.Results The patient was admitted to hospital after 4 days of cough and 2 days of electrolyte disturbance Cause cough 4 days, found that the electrolyte disorder hospitalize. There were difficult to correct the hypokalemia,hyponatremia, metabolic alkalosisbefore and after the hospital. Patient was given intravenous electrolyte supplementation and acid-base balance correction for 1 week, daily blood gas analysis showed no improvement. It was considered as bartter syndrome by genetic testing combined with clinical experience. After 4 days of simultaneous oral administration of spironolactone and potassium citrate particles, the child's internal environment gradually recovered and was discharged. After discharge, the genetic test results showed that homozygous deletion of exon 2-20 of CLCNKB gene was found, and the homozygous large fragment deletion was consistent with type ⅢBartter syndrome (parents were inbred), which was a new mutation.Conclusions Although genetic examination can make a definite diagnosis, the detection time is relatively slow, which may delay the diagnosis and treatment. Therefore, it is of great importance to actively improve the understanding and intervention of clinicians in this disease. |
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