低钾血症中遗传性肾小管疾病的临床特点分析

目的 探讨不同病因所致低钾血症的临床特点及治疗预后,提高遗传性肾小管疾病的诊治水平。方法 回顾性分析山东第一医科大学附属省立医院小儿内分泌综合科病房收治低钾血症患者,排除胃肠道失钾和营养不良的易辨识因素,收集临床病例资料。部分患者进行基因检测,对遗传性肾小管疾病的临床特点进行分析。结果 低钾血症患者65例,男29例,女36例。共有47例属于遗传性肾小管疾病,包括Bartter综合征(23例)、肾小管酸中毒(14例)、Gitelman综合征(8例)、范可尼综合征(2例)。10例患者行基因检测,明确致病变异9例,包括新发变异1例。Bartter综合征为低血钾、低血钠、低氯代谢性碱中毒;Gitelman综合征生化表现为低血钾低氯;肾小管酸中毒表现为低钾高氯酸中毒。Bartter综合征发病年龄最小,其次是肾小管酸中毒,Gitelman综合征多为年长儿。Bartter综合征最常见的就诊症状为胃肠道不适、多饮多尿、生长迟缓,Gitelman综合征以胃肠道症状、生长迟缓为主要就诊原因,肾小管酸中毒患者多以四肢乏力、生长迟缓为主要就诊症状。经治疗,遗传性肾小管疾病患儿预后较好,多数实现生化正常和生长追赶。结论 遗传性肾小管疾病是低钾血症的常见病因,具有不同临床和生化特点,基因检测有助于确诊,长期治疗随访有助于改善预后。

Clinical characteristics of hereditary renal tubular disease in hypokalemia

Objective To improve the level of diagnosis and treatment of hereditary renal tubular diseases by collecting clinical characteristics and prognostic events of hypokalemia caused by different pathogenic factors. Methods A retrospective analysis was conducted on the patients with hypokalemia admitted to the ward of Pediatric Endocrinology Department, Provincial Hospital Affiliated to Shandong First Medical University. Easily identifiable factors of gastrointestinal potassium loss and malnutrition were excluded. Clinical data were collected. Some patients received genetic detection, and clinical characteristics of hereditary renal tubular disease were analyzed. Results In 65 patients with hypokalemia, there were 29 male cases and 36 female cases. A total of 47 cases were found to have hereditary renal tubular diseases, including Bartter syndrome (23 cases), renal tubular acidosis (14 cases), Gitelman syndrome (8 cases) and Fanconi syndrome (2 cases). Ten patients underwent genetic testing, 9 cases had confirmed pathogenic mutations (including one novel mutation). Bartter syndrome showed hypokalemia, hyponatremia and hypochloremic metabolic alkalosis. Gitelman syndrome was characterized by hypokalemia and hypochloremia, and nenal tubular acidosis was characterized by hyperchloremic acidosis. The onset age of Bartter syndrome was the youngest, followed by renal tubular acidosis, and older patients were often found in Gitelman syndrome. The most common symptoms of Bartter syndrome were gastrointestinal discomfort, polydipsia & urorrhagia, and growth retardation. Gitelman syndrome was mainly caused by gastrointestinal symptoms, growth retardation and weakness. Renal tubular acidosis patients were mainly characterized by limb weakness and growth retardation. The children with hereditary renal tubular diseases had great prognosis after treatment, and most of patients achieved biochemical normalization and catch-up growth. Conclusion Hereditary renal tubular disease is an important cause of hypokalemia with different clinical and biochemical characteristics. Genetic examination is useful for diagnosis, and long-term treatment and follow-up makes for improving prognosis.