An Adult Case of Bartter Syndrome Type III Presenting with Proteinuria
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 pro...
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The Korean Society of Pathologists and the Korean Society for Cytopathology
2016
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| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4804144/ |
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pubmed-48041442016-03-24 An Adult Case of Bartter Syndrome Type III Presenting with Proteinuria Cha, Eun Jung Hwang, Won Min Yun, Sung-Ro Park, Moon Hyang Case Study 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. The Korean Society of Pathologists and the Korean Society for Cytopathology 2016-03 2016-01-11 /pmc/articles/PMC4804144/ /pubmed/26755355 http://dx.doi.org/10.4132/jptm.2015.08.31 Text en © 2016 The Korean Society of Pathologists/the Korean Society for Cytopathology This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. |
| repository_type |
Open Access Journal |
| institution_category |
Foreign Institution |
| institution |
US National Center for Biotechnology Information |
| building |
NCBI PubMed |
| collection |
Online Access |
| language |
English |
| format |
Online |
| author |
Cha, Eun Jung Hwang, Won Min Yun, Sung-Ro Park, Moon Hyang |
| spellingShingle |
Cha, Eun Jung Hwang, Won Min Yun, Sung-Ro Park, Moon Hyang An Adult Case of Bartter Syndrome Type III Presenting with Proteinuria |
| author_facet |
Cha, Eun Jung Hwang, Won Min Yun, Sung-Ro Park, Moon Hyang |
| author_sort |
Cha, Eun Jung |
| title |
An Adult Case of Bartter Syndrome Type III Presenting with Proteinuria |
| title_short |
An Adult Case of Bartter Syndrome Type III Presenting with Proteinuria |
| title_full |
An Adult Case of Bartter Syndrome Type III Presenting with Proteinuria |
| title_fullStr |
An Adult Case of Bartter Syndrome Type III Presenting with Proteinuria |
| title_full_unstemmed |
An Adult Case of Bartter Syndrome Type III Presenting with Proteinuria |
| title_sort |
adult case of bartter syndrome type iii presenting with proteinuria |
| description |
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. |
| publisher |
The Korean Society of Pathologists and the Korean Society for Cytopathology |
| publishDate |
2016 |
| url |
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4804144/ |
| _version_ |
1613556580796596224 |