关键词: 遗传性肾小管疾病, 低钾血症, 基因检测, Bartter综合症, Gitelman综合征

Abstract:

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.

Key words: hypokalemia, hereditary tubular disease, genetic testing, Bartter syndrome, Gitelman syndrome