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Contradiction between genetic analysis and diuretic loading test in type I Bartter syndrome: a case report
BACKGROUND: In typical cases of Bartter syndrome (BS), assessing response to diuretics (furosemide and thiazide), hereinafter referred to as diuretic loading test, may be used to diagnose the type by detecting which part of the kidney tubule is not functioning correctly. However, the diuretic loadin...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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BioMed Central
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8404274/ https://www.ncbi.nlm.nih.gov/pubmed/34461850 http://dx.doi.org/10.1186/s12882-021-02497-6 |
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author | Kuroda, Jumpei Harada, Ryoko Hamada, Riku Okuda, Yusuke Yoshida, Yasuhiro Hataya, Hiroshi Nozu, Kandai Iijima, Kazumoto Honda, Masataka Ishikura, Kenji |
author_facet | Kuroda, Jumpei Harada, Ryoko Hamada, Riku Okuda, Yusuke Yoshida, Yasuhiro Hataya, Hiroshi Nozu, Kandai Iijima, Kazumoto Honda, Masataka Ishikura, Kenji |
author_sort | Kuroda, Jumpei |
collection | PubMed |
description | BACKGROUND: In typical cases of Bartter syndrome (BS), assessing response to diuretics (furosemide and thiazide), hereinafter referred to as diuretic loading test, may be used to diagnose the type by detecting which part of the kidney tubule is not functioning correctly. However, the diuretic loading test may not always agree with the results of genetic analyses. CASE PRESENTATION: A 5-year-old boy was admitted due to lower extremity weakness and abnormal gait. He had a recurrent episode of muscle weakness and laboratory results showed severe hypokalemia. The direct genomic sequencing of the case revealed a new mutation in the SLC12A1 gene, which is associated with type I Bartter syndrome. Because there was the difference between the phenotype and genotype, we conducted a diuretic loading test to confirm the diagnosis. However, the results showed a clear increase in urine excretion of Na and Cl. These results were not consistent with typical type I BS, but consistent with the patient’s phenotype. CONCLUSION: The diuretic loading test has limited utility for diagnosis especially in atypical cases. On the other hand, this test, which allows assessment of channel function, is useful for better understanding of the genotype-phenotype correlation. |
format | Online Article Text |
id | pubmed-8404274 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-84042742021-08-30 Contradiction between genetic analysis and diuretic loading test in type I Bartter syndrome: a case report Kuroda, Jumpei Harada, Ryoko Hamada, Riku Okuda, Yusuke Yoshida, Yasuhiro Hataya, Hiroshi Nozu, Kandai Iijima, Kazumoto Honda, Masataka Ishikura, Kenji BMC Nephrol Case Report BACKGROUND: In typical cases of Bartter syndrome (BS), assessing response to diuretics (furosemide and thiazide), hereinafter referred to as diuretic loading test, may be used to diagnose the type by detecting which part of the kidney tubule is not functioning correctly. However, the diuretic loading test may not always agree with the results of genetic analyses. CASE PRESENTATION: A 5-year-old boy was admitted due to lower extremity weakness and abnormal gait. He had a recurrent episode of muscle weakness and laboratory results showed severe hypokalemia. The direct genomic sequencing of the case revealed a new mutation in the SLC12A1 gene, which is associated with type I Bartter syndrome. Because there was the difference between the phenotype and genotype, we conducted a diuretic loading test to confirm the diagnosis. However, the results showed a clear increase in urine excretion of Na and Cl. These results were not consistent with typical type I BS, but consistent with the patient’s phenotype. CONCLUSION: The diuretic loading test has limited utility for diagnosis especially in atypical cases. On the other hand, this test, which allows assessment of channel function, is useful for better understanding of the genotype-phenotype correlation. BioMed Central 2021-08-30 /pmc/articles/PMC8404274/ /pubmed/34461850 http://dx.doi.org/10.1186/s12882-021-02497-6 Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data. |
spellingShingle | Case Report Kuroda, Jumpei Harada, Ryoko Hamada, Riku Okuda, Yusuke Yoshida, Yasuhiro Hataya, Hiroshi Nozu, Kandai Iijima, Kazumoto Honda, Masataka Ishikura, Kenji Contradiction between genetic analysis and diuretic loading test in type I Bartter syndrome: a case report |
title | Contradiction between genetic analysis and diuretic loading test in type I Bartter syndrome: a case report |
title_full | Contradiction between genetic analysis and diuretic loading test in type I Bartter syndrome: a case report |
title_fullStr | Contradiction between genetic analysis and diuretic loading test in type I Bartter syndrome: a case report |
title_full_unstemmed | Contradiction between genetic analysis and diuretic loading test in type I Bartter syndrome: a case report |
title_short | Contradiction between genetic analysis and diuretic loading test in type I Bartter syndrome: a case report |
title_sort | contradiction between genetic analysis and diuretic loading test in type i bartter syndrome: a case report |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8404274/ https://www.ncbi.nlm.nih.gov/pubmed/34461850 http://dx.doi.org/10.1186/s12882-021-02497-6 |
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