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Case Study
- 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
- DOI: https://doi.org/10.4132/jptm.2015.08.31
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- 110 Download
- 6 Web of Science
- 6 Crossref
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Abstract
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.
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Citations
Citations to this article as recorded by
- Bartter syndrome with multiple renal and liver cysts: a case report
Yemei He, Yue Zhou, Weihua Wu, Yue Chen, Santao Ou
International Urology and Nephrology.2022; 55(1): 225. CrossRef - Bartter’s syndrome: clinical findings, genetic causes and therapeutic approach
Flavia Cristina Carvalho Mrad, Sílvia Bouissou Morais Soares, Luiz Alberto Wanderley de Menezes Silva, Pedro Versiani dos Anjos Menezes, Ana Cristina Simões-e-Silva
World Journal of Pediatrics.2021; 17(1): 31. CrossRef - Association of Adult-Onset Bartter Syndrome With Undifferentiated Connective Tissue Disorder
Nida Saleem, Humaira Nasir, Danyal Hassan, Momena Manzoor
Cureus.2021;[Epub] CrossRef - Acquired autoimmune Bartter syndrome in a patient with primary hypothyroidism
Noreen Nasir, Deepali Mohanty, Arun Kumar Pande, Dhanita Khanna, Kavita Vishvakarma, Latika Gupta
Rheumatology International.2021; 43(3): 567. CrossRef - 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
Martin Kömhoff, Kamel Laghmani
Current Opinion in Nephrology and Hypertension.2017; 26(5): 419. CrossRef
- Bartter syndrome with multiple renal and liver cysts: a case report
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