Choi Naye, Kang Hee Gyung
Department of Pediatrics, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea.
Electrolyte Blood Press. 2022 Dec;20(2):49-56. doi: 10.5049/EBP.2022.20.2.49. Epub 2022 Dec 30.
Bartter syndrome (BS) is one of the most well-known hereditary tubular disorders, characterized by hypokalemic, hypochloremic metabolic alkalosis, and polyuria/polydipsia. This disease usually presents before or during infancy, and adult nephrologists often inherit the patients from pediatric nephrologists since this is a life-long condition. Here, a few case scenarios will be presented to recount how they first got diagnosed and how their clinical courses were during childhood until adulthood, in addition to a brief review of the disease and its treatment.
巴特综合征(BS)是最著名的遗传性肾小管疾病之一,其特征为低钾血症、低氯性代谢性碱中毒和多尿/烦渴。这种疾病通常在婴儿期之前或期间出现,由于这是一种终身疾病,成年肾病学家常常从儿科肾病学家那里接手患者。在此,将呈现一些病例情况,讲述他们最初是如何被诊断的,以及从儿童期到成年期的临床病程,此外还将对该疾病及其治疗进行简要回顾。