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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...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Frontiers Media S.A.
2023
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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. |
format | Online Article Text |
id | pubmed-10098006 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
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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