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Kidney Week

Abstract: PO2002

Long-Term Outcome of Bartter Syndrome

Session Information

Category: Pediatric Nephrology

  • 1700 Pediatric Nephrology

Authors

  • Choi, Naye, Seoul National University Children's Hospital, Seoul, Korea (the Republic of)
  • Kim, Ji hyun, Seoul National University Bundang Hospital, Seongnam, Korea (the Republic of)
  • Kim, Seong heon, Seoul National University Children's Hospital, Seoul, Korea (the Republic of)
  • Bae, Eun Hui, Chonnam National University Hospital, Gwangju, Gwangju, Korea (the Republic of)
  • Lee, Joo Hoon, Asan Medical Center, Songpa-gu, Seoul, Korea (the Republic of)
  • Ha, Il-Soo, Seoul National University College of Medicine, Seoul, Korea (the Republic of)
  • Ahn, Yo Han, Seoul National University Children's Hospital, Seoul, Korea (the Republic of)
  • Hyun, Hyesun, Catholic University of Korea School of Medicine, Seoul, Seoul, Korea (the Republic of)
  • Kang, Hee Gyung, Seoul National University Children's Hospital, Seoul, Korea (the Republic of)
Background

Bartter syndrome (BS) is a rare salt-wasting tubulopathy caused by mutations in genes encoding sodium, potassium, or chloride transporters of the thick ascending limb of Henle and/or the distal convoluted tubule of the kidney. BS is characterized by polyuria, failure to thrive, hypokalemia, metabolic alkalosis, hyperreninemia and hyperaldosteronism. Previously, potassium and/or sodium supplements, potassium sparing diuretics and NSAIDS were known as possible treatment options for BS. While presenting symptoms and initial managements of BS are relatively well known, long-term outcomes and treatments are still unclear.

Methods

Through a survey for the members of Genetic Kidney Disease Working Group of the Korean Society of Nephrology, clinically and/or genetically diagnosed 54 Korean BS patients were recruited. We retrospectively reviewed their medical records between 1992-2020 for presenting symptom, laboratory findings, genotype, medication, and their final height and renal function.

Results

There were clinically and/or genetically diagnosed with BS at median age of 5 months old (range 0-271) and their median follow up was 8 years (range 0.5-27). Genetic diagnosis of BS was made in 40 patients; 4 patients with SLC12A1 gene mutations, 2 patients with KCNJ1 gene mutations, 33 patients with CLCNKB gene mutations, and 1 patient with BSND mutation were revealed, respectively. Potassium chloride supplements was administered in 94% of patients and potassium sparing diuretics were administered in 68% of patients. Average dosage of potassium supplementation was equivalent to 4.30 mEq/day/kg (body weight). At the last follow-up of 8 years after the initial diagnosis, 41% had short stature (height less than 3rd percentile) and CKD was observed in six patients (CKD stage 3 in four and stage 5 in two patients).

Conclusion

In conclusion, BS patients need huge amount of potassium supplementation along with potassium sparing agent throughout their lives. Despite of management, growth impairment was observed in significant portion of this population, while CKD was found in 11%.