A Case of Adult onset Bartter Syndrome with Nephrocalcinosis

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Kosin Med J. 2014;29(1):75-79

Publication date (electronic) : 2014 December 17

doi : https://doi.org/10.7180/kmj.2014.29.1.75

Min Gyu Park^,¹, Tae Won Lim ¹, Hee Taek Oh ¹, Seung Un Song ¹, Dong Heo ¹, Hark Rim ²

¹Department of Internal Medicine, Dae-Dong Hospital, Busan, Korea

²Department of Internal Medicine, College of Medicine, Kosin University, Busan, Korea

Corresponding Author: Min Gyu Park, Department of Internal Medicine, Dae-Dong Hospital, 187 Chungyel-daero, Dongrae-gu, Busan, 607-711, Korea TEL: +82-10-4000-9546 FAX: +82-51-553-7575 E-mail: 95240226@naver.com

Received 2013 June 01; Revised 2013 August 27; Accepted 2013 September 11.

Abstract

Bartter syndrome is a renal tubular defect in electrolyte transport characterized by hypokalemia, metabolic alkalosis, hyperreninemia, hyperaldosteronism, normal blood pressure, and other clinical symptoms. As a clinical and genetical heterogeneous disorder, this syndrome can be classified into two clinical variants, antenatal Bartter syndrome and classic Bartter syndrome according to the onset age. Nephrocalcinosis is common in antenatal Bartter syndrome, but is rare in classic Bartter syndrome. It can also be classified into five genetic subtypes by the underlying mutant gene, all of which are expressed in the tubular epithelial cells of the thick ascending limb of the loop of Henle. Patients with Bartter syndrome type 1, 2 and 4 present at a younger age than classic Bartter syndrome type 3. We have experienced a case of Bartter syndrome with nephrocalcinosis in a 42-year-old woman diagnosed by biochemical and radiologic studies. We had successful response with potassium chloride and spironolactone.

Keywords: Bartter Syndrome; Hypokalemia; Metabolic Alkalosis; Nephrocalcinosis

Fig. 1.

Renal Ultrasonography: Decreased kidney size with increased echogenicity of both renal medulla. This is a typical finding of medullary nephrocalcinosis.

Fig. 2.

Abdominal CT : Bilateral calcifications clustered in the region of the renal medulla. (A) Pre-contrast enhanced image, (B) Contrast enhanced image.

Fig. 3.

Change of serum K levels before and after adding spironolactone to potassium chloride. tx=treatment, f/u= followup.

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