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Bartter syndrome type III with glomerular dysplasia and chronic kidney disease: A case report

BACKGROUND: Bartter syndrome (BS) type III is a rare autosomal recessive genetic disease. Its clinical features are polyuria, hypokalemia, hypochloremia, metabolic alkalosis, and hyperreninaemia. A few BS type III can be complicated with chronic kidney disease. CASE PRESENTATION: We report a 14-year...

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Autores principales: Liu, Jingqi, Zhang, Yudi, Wu, Xiaochuan, Li, Yongzhen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10098006/
https://www.ncbi.nlm.nih.gov/pubmed/37063660
http://dx.doi.org/10.3389/fped.2023.1169486
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author Liu, Jingqi
Zhang, Yudi
Wu, Xiaochuan
Li, Yongzhen
author_facet Liu, Jingqi
Zhang, Yudi
Wu, Xiaochuan
Li, Yongzhen
author_sort Liu, Jingqi
collection PubMed
description BACKGROUND: Bartter syndrome (BS) type III is a rare autosomal recessive genetic disease. Its clinical features are polyuria, hypokalemia, hypochloremia, metabolic alkalosis, and hyperreninaemia. A few BS type III can be complicated with chronic kidney disease. CASE PRESENTATION: We report a 14-year-old boy with Bartter syndrome caused by a c.1792C > T (p.Q598*) mutation in the CLCNKB gene. He was a no deafness and full-term baby, and he had renal dysplasia and chronic kidney disease (CKD). In addition, we summarize all cases of BS type III complicated with CKD. CONCLUSIONS: We report a case of Bartter syndrome complicated by chronic kidney disease caused by a new mutation of CLCNKB. As we all know, BS type IV is usually combined with chronic kidney disease, and BS type III can also integrate with CKD. We don't find BS type III with glomerular dysplasia in the literature. So renal damage in BS type III is not only FSGS; clinicians must also be aware of glomerular dysplasia.
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spelling pubmed-100980062023-04-14 Bartter syndrome type III with glomerular dysplasia and chronic kidney disease: A case report Liu, Jingqi Zhang, Yudi Wu, Xiaochuan Li, Yongzhen Front Pediatr Pediatrics BACKGROUND: Bartter syndrome (BS) type III is a rare autosomal recessive genetic disease. Its clinical features are polyuria, hypokalemia, hypochloremia, metabolic alkalosis, and hyperreninaemia. A few BS type III can be complicated with chronic kidney disease. CASE PRESENTATION: We report a 14-year-old boy with Bartter syndrome caused by a c.1792C > T (p.Q598*) mutation in the CLCNKB gene. He was a no deafness and full-term baby, and he had renal dysplasia and chronic kidney disease (CKD). In addition, we summarize all cases of BS type III complicated with CKD. CONCLUSIONS: We report a case of Bartter syndrome complicated by chronic kidney disease caused by a new mutation of CLCNKB. As we all know, BS type IV is usually combined with chronic kidney disease, and BS type III can also integrate with CKD. We don't find BS type III with glomerular dysplasia in the literature. So renal damage in BS type III is not only FSGS; clinicians must also be aware of glomerular dysplasia. Frontiers Media S.A. 2023-03-30 /pmc/articles/PMC10098006/ /pubmed/37063660 http://dx.doi.org/10.3389/fped.2023.1169486 Text en © 2023 Liu, Zhang, Wu and Li. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY) (https://creativecommons.org/licenses/by/4.0/) . The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Pediatrics
Liu, Jingqi
Zhang, Yudi
Wu, Xiaochuan
Li, Yongzhen
Bartter syndrome type III with glomerular dysplasia and chronic kidney disease: A case report
title Bartter syndrome type III with glomerular dysplasia and chronic kidney disease: A case report
title_full Bartter syndrome type III with glomerular dysplasia and chronic kidney disease: A case report
title_fullStr Bartter syndrome type III with glomerular dysplasia and chronic kidney disease: A case report
title_full_unstemmed Bartter syndrome type III with glomerular dysplasia and chronic kidney disease: A case report
title_short Bartter syndrome type III with glomerular dysplasia and chronic kidney disease: A case report
title_sort bartter syndrome type iii with glomerular dysplasia and chronic kidney disease: a case report
topic Pediatrics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10098006/
https://www.ncbi.nlm.nih.gov/pubmed/37063660
http://dx.doi.org/10.3389/fped.2023.1169486
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