an adult case of bartter syndrome type iii presenting with proteinuria

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ID: 238507
2016
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Abstract
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.
Reference Key
cha2016journalan Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors ;Eun Jung Cha;Won Min Hwang;Sung-Ro Yun;Moon Hyang Park
Journal plant journal
Year 2016
DOI
10.4132/jptm.2015.08.31
URL
http://www.jpatholtm.org/upload/pdf/jptm-2015-08-31.pdf
Keywords
hypokalemia juxtaglomerular cell hyperplasiapathology

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