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Won Min Hwang 1 Article
An Adult Case of Bartter Syndrome Type III Presenting with Proteinuria
Eun Jung Cha, Won Min Hwang, Sung-Ro Yun, Moon Hyang Park
J Pathol Transl Med. 2016;50(2):160-164.   Published online January 11, 2016
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AbstractAbstract PDF
Bartter syndrome (BS) I–IV is a rare autosomal recessive disorder affecting salt reabsorption in the thick ascending limb of the loop of Henle. This report highlights clinicopathological findings and genetic studies of classic BS in a 22-year-old female patient who presented with persistent mild proteinuria for 2 years. A renal biopsy demonstrated a mild to moderate increase in the mesangial cells and matrix of most glomeruli, along with marked juxtaglomerular cell hyperplasia. These findings suggested BS associated with mild IgA nephropathy. Focal tubular atrophy, interstitial fibrosis, and lymphocytic infiltration were also observed. A genetic study of the patient and her parents revealed a mutation of the CLCNKB genes. The patient was diagnosed with BS, type III. This case represents an atypical presentation of classic BS in an adult patient. Pathologic findings of renal biopsy combined with genetic analysis and clinicolaboratory findings are important in making an accurate diagnosis.


Citations to this article as recorded by  
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  • A novel mutation associated with Type�III Bartter syndrome: A report of five cases
    Yanhan Li, Chengcheng Wu, Jie Gu, Dong Li, Yanling Yang
    Molecular Medicine Reports.2019;[Epub]     CrossRef
  • Pathophysiology of antenatal Bartterʼs syndrome
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    Current Opinion in Nephrology and Hypertension.2017; 26(5): 419.     CrossRef

JPTM : Journal of Pathology and Translational Medicine