A Rare Diagnosis in A Pediatric Case Without Metabolic Alkalosis; Bartter Syndrome
Inherited salt-wasting tubulopathies include antenatal Bartter syndrome (BS), classical (tip 3) BS, and Gitelman syndrome. BS is an autosomal recessive inherited syndrome associated with impaired sodium and chloride reabsorption in the renal tubule. In classical BS cases with mutations in CLCNKB gen...
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| Format: | Article |
| Language: | English |
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Galenos Yayinevi
2024-03-01
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| Series: | Bagcilar Medical Bulletin |
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| Online Access: |
http://behmedicalbulletin.org/archives/archive-detail/article-preview/a-rare-diagnosis-in-a-pediatric-case-without-metab/63757
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| _version_ | 1797253823079645184 |
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| author | Demet Tosun Sebahat Tülpar Rümeysa Yasemin Çiçek |
| author_facet | Demet Tosun Sebahat Tülpar Rümeysa Yasemin Çiçek |
| author_sort | Demet Tosun |
| collection | DOAJ |
| description | Inherited salt-wasting tubulopathies include antenatal Bartter syndrome (BS), classical (tip 3) BS, and Gitelman syndrome. BS is an autosomal recessive inherited syndrome associated with impaired sodium and chloride reabsorption in the renal tubule. In classical BS cases with mutations in CLCNKB gene, dehydration episodes are observed within the first year of life. Polyuria, polydipsia, and dehydration are common symptoms in BS. Hypokalemia, hypochloremia, and metabolic alkalosis are observed in almost all of the cases. In this article, we presented a case of type 3 BS without metabolic alkalosis. In the presence of failure to thrive, polyuria, and low sodium, potassium, and chloride, even in the absence of metabolic alkalosis, type 3 BS should be considered in the differential diagnosis. |
| first_indexed | 2024-04-24T21:40:11Z |
| format | Article |
| id | doaj.art-1ea2914aa93a43fe89d6fe43cefc6841 |
| institution | Directory Open Access Journal |
| issn | 2547-9431 |
| language | English |
| last_indexed | 2024-04-24T21:40:11Z |
| publishDate | 2024-03-01 |
| publisher | Galenos Yayinevi |
| record_format | Article |
| series | Bagcilar Medical Bulletin |
| spelling | doaj.art-1ea2914aa93a43fe89d6fe43cefc68412024-03-21T06:27:24ZengGalenos YayineviBagcilar Medical Bulletin2547-94312024-03-0191717310.4274/BMB.galenos.2023.2023-10-09313049054A Rare Diagnosis in A Pediatric Case Without Metabolic Alkalosis; Bartter SyndromeDemet Tosun0Sebahat Tülpar1Rümeysa Yasemin Çiçek2 University of Health Sciences Turkey, İstanbul Bakırköy Dr. Sadi Konuk Training and Research Hospital, Clinic of Pediatrics, İstanbul, Turkey University of Health Sciences Turkey, İstanbul Bakırköy Dr. Sadi Konuk Training and Research Hospital, Clinic of Pediatrics, İstanbul, Turkey University of Health Sciences Turkey, İstanbul Bakırköy Dr. Sadi Konuk Training and Research Hospital, Clinic of Pediatrics, İstanbul, Turkey Inherited salt-wasting tubulopathies include antenatal Bartter syndrome (BS), classical (tip 3) BS, and Gitelman syndrome. BS is an autosomal recessive inherited syndrome associated with impaired sodium and chloride reabsorption in the renal tubule. In classical BS cases with mutations in CLCNKB gene, dehydration episodes are observed within the first year of life. Polyuria, polydipsia, and dehydration are common symptoms in BS. Hypokalemia, hypochloremia, and metabolic alkalosis are observed in almost all of the cases. In this article, we presented a case of type 3 BS without metabolic alkalosis. In the presence of failure to thrive, polyuria, and low sodium, potassium, and chloride, even in the absence of metabolic alkalosis, type 3 BS should be considered in the differential diagnosis. http://behmedicalbulletin.org/archives/archive-detail/article-preview/a-rare-diagnosis-in-a-pediatric-case-without-metab/63757 bartter syndromehypokalemiametabolic alkalosis |
| spellingShingle | Demet Tosun Sebahat Tülpar Rümeysa Yasemin Çiçek A Rare Diagnosis in A Pediatric Case Without Metabolic Alkalosis; Bartter Syndrome Bagcilar Medical Bulletin bartter syndrome hypokalemia metabolic alkalosis |
| title | A Rare Diagnosis in A Pediatric Case Without Metabolic Alkalosis; Bartter Syndrome |
| title_full | A Rare Diagnosis in A Pediatric Case Without Metabolic Alkalosis; Bartter Syndrome |
| title_fullStr | A Rare Diagnosis in A Pediatric Case Without Metabolic Alkalosis; Bartter Syndrome |
| title_full_unstemmed | A Rare Diagnosis in A Pediatric Case Without Metabolic Alkalosis; Bartter Syndrome |
| title_short | A Rare Diagnosis in A Pediatric Case Without Metabolic Alkalosis; Bartter Syndrome |
| title_sort | rare diagnosis in a pediatric case without metabolic alkalosis bartter syndrome |
| topic | bartter syndrome hypokalemia metabolic alkalosis |
| url |
http://behmedicalbulletin.org/archives/archive-detail/article-preview/a-rare-diagnosis-in-a-pediatric-case-without-metab/63757
|
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