罕见病研究 (Jan 2024)

Expert Consensus for the Diagnosis and Treatment of Bartter Syndrome in China(2023)

  • Chinese Society of Rare Diseases,
  • Rare Diseases Society of Chinese Research Hospital Association,
  • China Alliance for Rare Diseases,
  • Beijing Society of Rare Disease Clinical Care and Accessibility,
  • Bartter Syndrome Consensus Working Group

DOI
https://doi.org/10.12376/j.issn.2097-0501.2024.01.012
Journal volume & issue
Vol. 3, no. 1
pp. 87 – 101

Abstract

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Bartter syndrome (BS) is a rare inherited salt-losing renal tubular disorder characterized by secondary hyperaldosteronism with hypokalemia and hypochloremic metabolic alkalosis, and normal or low blood pressure. In severe cases, preterm delivery, hypovolemia, ventricular arrhythmia, rhabdo-myolysis, renal failure, growth failure and sensorineural deafness may occur. In recent years, research on BS has made significant progress. The Bartter Syndrome Consensus Working Group has performed a systematic literature review, and based on evidence-based medicine, summarized aspects related to BS, including clinical manifestations and classification, diagnosis, treatment strategies, and management of complications. This consensus provides an important reference for the better diagnosis and treatment of BS.

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