A Case of Failure to Thrive- Investigation Beyond a Positive Sweat Test
Failure to thrive represents a difficult entity to define and can be associated with several diseases. Therefore, combining all the data (family history, perinatal and infancy information) with the physical examination and laboratory findings is a fundamental step to reach the correct diagnosis. A c...
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| Format: | Article |
| Language: | English |
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Istanbul University Press
2021-05-01
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| Series: | Çocuk Dergisi |
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| Online Access: | https://cdn.istanbul.edu.tr/file/JTA6CLJ8T5/3F849109242B4C8DA9E815C88308DA2E |
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| author | Sara Maria Mosca Ferreira Da Silva Telma Barbosa Ana Teixeira Céu R. Mota Teresa Costa Liane Correia Costa |
| author_facet | Sara Maria Mosca Ferreira Da Silva Telma Barbosa Ana Teixeira Céu R. Mota Teresa Costa Liane Correia Costa |
| author_sort | Sara Maria Mosca Ferreira Da Silva |
| collection | DOAJ |
| description | Failure to thrive represents a difficult entity to define and can be associated with several diseases. Therefore, combining all the data (family history, perinatal and infancy information) with the physical examination and laboratory findings is a fundamental step to reach the correct diagnosis. A comprehensive and structured diagnostic approach is required in order to select between cystic fibrosis, innate errors of the metabolism or malabsorption syndromes as possible causes. The sweat test is the goldstandard method to diagnose cystic fibrosis although it is widely recognized that there are some inherent limitations to the test. For that reason, it is important to discuss unexpected results and to reassess, when possible, the exams previously performed, which can be crucial to make the diagnosis. Here, the authors report a patient with minor dysmorphic features associated with failure to thrive and a positive result for the sweat test and its following investigation to achieve the definite diagnosis of Bartter syndrome. |
| format | Article |
| id | doaj-art-31f1aea35f104d8a94d86759d55a3cec |
| institution | OA Journals |
| issn | 1308-8491 |
| language | English |
| publishDate | 2021-05-01 |
| publisher | Istanbul University Press |
| record_format | Article |
| series | Çocuk Dergisi |
| spelling | doaj-art-31f1aea35f104d8a94d86759d55a3cec2025-08-20T02:15:19ZengIstanbul University PressÇocuk Dergisi1308-84912021-05-01211868810.26650/jchild.2021.766768123456A Case of Failure to Thrive- Investigation Beyond a Positive Sweat TestSara Maria Mosca Ferreira Da Silva0https://orcid.org/0000-0002-5474-7236Telma Barbosa1Ana Teixeira2https://orcid.org/0000-0001-5211-2467Céu R. Mota3https://orcid.org/0000-0001-5280-0788Teresa Costa4https://orcid.org/0000-0002-6478-4241Liane Correia Costa5https://orcid.org/0000-0002-8216-090XCentro Hospitalar Universitário do Porto, Porto, PortugalCentro Hospitalar Universitário do Porto, Porto, PortugalCentro Hospitalar Universitário do Porto, Porto, PortugalCentro Hospitalar Universitário do Porto, Porto, PortugalCentro Hospitalar Universitário do Porto, Porto, PortugalCentro Hospitalar Universitário do Porto, Porto, PortugalFailure to thrive represents a difficult entity to define and can be associated with several diseases. Therefore, combining all the data (family history, perinatal and infancy information) with the physical examination and laboratory findings is a fundamental step to reach the correct diagnosis. A comprehensive and structured diagnostic approach is required in order to select between cystic fibrosis, innate errors of the metabolism or malabsorption syndromes as possible causes. The sweat test is the goldstandard method to diagnose cystic fibrosis although it is widely recognized that there are some inherent limitations to the test. For that reason, it is important to discuss unexpected results and to reassess, when possible, the exams previously performed, which can be crucial to make the diagnosis. Here, the authors report a patient with minor dysmorphic features associated with failure to thrive and a positive result for the sweat test and its following investigation to achieve the definite diagnosis of Bartter syndrome.https://cdn.istanbul.edu.tr/file/JTA6CLJ8T5/3F849109242B4C8DA9E815C88308DA2Efailure to thrivebartter syndromepolyurianephrocalcinosis |
| spellingShingle | Sara Maria Mosca Ferreira Da Silva Telma Barbosa Ana Teixeira Céu R. Mota Teresa Costa Liane Correia Costa A Case of Failure to Thrive- Investigation Beyond a Positive Sweat Test Çocuk Dergisi failure to thrive bartter syndrome polyuria nephrocalcinosis |
| title | A Case of Failure to Thrive- Investigation Beyond a Positive Sweat Test |
| title_full | A Case of Failure to Thrive- Investigation Beyond a Positive Sweat Test |
| title_fullStr | A Case of Failure to Thrive- Investigation Beyond a Positive Sweat Test |
| title_full_unstemmed | A Case of Failure to Thrive- Investigation Beyond a Positive Sweat Test |
| title_short | A Case of Failure to Thrive- Investigation Beyond a Positive Sweat Test |
| title_sort | case of failure to thrive investigation beyond a positive sweat test |
| topic | failure to thrive bartter syndrome polyuria nephrocalcinosis |
| url | https://cdn.istanbul.edu.tr/file/JTA6CLJ8T5/3F849109242B4C8DA9E815C88308DA2E |
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