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巴特综合征:一位儿科肾病学家的观点

Bartter Syndrome: Perspectives of a Pediatric Nephrologist.

作者信息

Choi Naye, Kang Hee Gyung

机构信息

Department of Pediatrics, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea.

出版信息

Electrolyte Blood Press. 2022 Dec;20(2):49-56. doi: 10.5049/EBP.2022.20.2.49. Epub 2022 Dec 30.

Abstract

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.

摘要

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。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e3fe/9827044/ad6eb49a4b6e/ebp-20-49-g001.jpg

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