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Hydrochlorothiazide Test as a Tool in the Diagnosis of Gitelman Syndrome in Chinese Patients
Traditional clinical diagnostic criteria for Gitelman syndrome (GS) including hypomagnesemia and hypocalciuria have been challenged by reports of atypical manifestations recently, as well as the development of genetic testing. Hydrochlorothiazide (HCT) test is a diagnostic method different from the...
Autores principales: | , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6165878/ https://www.ncbi.nlm.nih.gov/pubmed/30319542 http://dx.doi.org/10.3389/fendo.2018.00559 |
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author | Peng, Xiaoyan Zhao, Bingbin Zhang, Lei Jiang, Lanping Yuan, Tao Wang, Ying Wang, Haiyun Ma, Jie Li, Naishi Zheng, Ke Nie, Min Li, Xuemei Xing, Xiaoping Chen, Limeng |
author_facet | Peng, Xiaoyan Zhao, Bingbin Zhang, Lei Jiang, Lanping Yuan, Tao Wang, Ying Wang, Haiyun Ma, Jie Li, Naishi Zheng, Ke Nie, Min Li, Xuemei Xing, Xiaoping Chen, Limeng |
author_sort | Peng, Xiaoyan |
collection | PubMed |
description | Traditional clinical diagnostic criteria for Gitelman syndrome (GS) including hypomagnesemia and hypocalciuria have been challenged by reports of atypical manifestations recently, as well as the development of genetic testing. Hydrochlorothiazide (HCT) test is a diagnostic method different from the traditional biochemical parameters, which could evaluate the function of thiazide-sensitive sodium-chloride co-transporter (NCC) in vivo by a small dose of NCC inhibitor HCT. In this retrospective study, we compared the diagnostic significance of hypomagnesemia, hypocalciuria, and the reaction of HCT test, among Chinese patients with GS confirmed by genetic test. For patients who were clinically suspected of GS manifestations, SLC12A3 gene was sequenced to make genetic diagnosis. A total of 83 GS and 19 control patients were recruited, among which 37 underwent HCT test according to the standard process. Compared with the gold standard of genetic diagnosis, both the diagnostic sensitivity (93.10%) and specificity (100.00%) of the HCT test were much higher than those of hypomagnesemia and/or hypocalciuria. The area under the receiver operating characteristic (ROC) curve was 1.000 (95% CI 0.905–1.000) for HCT test, higher than the values using hypomagnesemia and/or hypocalciuria. The cost of HCT test was around $54, much lower than genetic diagnosis. In conclusion, besides traditional hypomagnesemia and hypocalciuria, HCT test could be a valuable tool in the clinical diagnosis of Chinese GS patients. |
format | Online Article Text |
id | pubmed-6165878 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-61658782018-10-12 Hydrochlorothiazide Test as a Tool in the Diagnosis of Gitelman Syndrome in Chinese Patients Peng, Xiaoyan Zhao, Bingbin Zhang, Lei Jiang, Lanping Yuan, Tao Wang, Ying Wang, Haiyun Ma, Jie Li, Naishi Zheng, Ke Nie, Min Li, Xuemei Xing, Xiaoping Chen, Limeng Front Endocrinol (Lausanne) Endocrinology Traditional clinical diagnostic criteria for Gitelman syndrome (GS) including hypomagnesemia and hypocalciuria have been challenged by reports of atypical manifestations recently, as well as the development of genetic testing. Hydrochlorothiazide (HCT) test is a diagnostic method different from the traditional biochemical parameters, which could evaluate the function of thiazide-sensitive sodium-chloride co-transporter (NCC) in vivo by a small dose of NCC inhibitor HCT. In this retrospective study, we compared the diagnostic significance of hypomagnesemia, hypocalciuria, and the reaction of HCT test, among Chinese patients with GS confirmed by genetic test. For patients who were clinically suspected of GS manifestations, SLC12A3 gene was sequenced to make genetic diagnosis. A total of 83 GS and 19 control patients were recruited, among which 37 underwent HCT test according to the standard process. Compared with the gold standard of genetic diagnosis, both the diagnostic sensitivity (93.10%) and specificity (100.00%) of the HCT test were much higher than those of hypomagnesemia and/or hypocalciuria. The area under the receiver operating characteristic (ROC) curve was 1.000 (95% CI 0.905–1.000) for HCT test, higher than the values using hypomagnesemia and/or hypocalciuria. The cost of HCT test was around $54, much lower than genetic diagnosis. In conclusion, besides traditional hypomagnesemia and hypocalciuria, HCT test could be a valuable tool in the clinical diagnosis of Chinese GS patients. Frontiers Media S.A. 2018-09-24 /pmc/articles/PMC6165878/ /pubmed/30319542 http://dx.doi.org/10.3389/fendo.2018.00559 Text en Copyright © 2018 Peng, Zhao, Zhang, Jiang, Yuan, Wang, Wang, Ma, Li, Zheng, Nie, Li, Xing and Chen. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). 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 | Endocrinology Peng, Xiaoyan Zhao, Bingbin Zhang, Lei Jiang, Lanping Yuan, Tao Wang, Ying Wang, Haiyun Ma, Jie Li, Naishi Zheng, Ke Nie, Min Li, Xuemei Xing, Xiaoping Chen, Limeng Hydrochlorothiazide Test as a Tool in the Diagnosis of Gitelman Syndrome in Chinese Patients |
title | Hydrochlorothiazide Test as a Tool in the Diagnosis of Gitelman Syndrome in Chinese Patients |
title_full | Hydrochlorothiazide Test as a Tool in the Diagnosis of Gitelman Syndrome in Chinese Patients |
title_fullStr | Hydrochlorothiazide Test as a Tool in the Diagnosis of Gitelman Syndrome in Chinese Patients |
title_full_unstemmed | Hydrochlorothiazide Test as a Tool in the Diagnosis of Gitelman Syndrome in Chinese Patients |
title_short | Hydrochlorothiazide Test as a Tool in the Diagnosis of Gitelman Syndrome in Chinese Patients |
title_sort | hydrochlorothiazide test as a tool in the diagnosis of gitelman syndrome in chinese patients |
topic | Endocrinology |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6165878/ https://www.ncbi.nlm.nih.gov/pubmed/30319542 http://dx.doi.org/10.3389/fendo.2018.00559 |
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