Bartter Type 4a Syndrome Diagnosed in a 30-week-old Preterm Neonate
Bartter syndrome is an uncommon autosomal recessive, salt-losing renal tubular disease. Its defining features are numerous electrolyte abnormalities, including low potassium and chloride levels, metabolic alkalosis, and low or normal blood pressure. We reported a case of neonatal Bartter syndrome pr...
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| Format: | Article |
| Language: | English |
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Galenos Yayinevi
2023-03-01
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| Series: | Bagcilar Medical Bulletin |
| Subjects: | |
| Online Access: |
http://behmedicalbulletin.org/archives/archive-detail/article-preview/bartter-type-4a-syndrome-diagnosed-in-a-30-week-ol/58571
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| _version_ | 1797884365033701376 |
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| author | Çağrı Cumhur Gök Özge Kaynar Leyli Şentürk Emrah Can Şahin Hamilçıkan |
| author_facet | Çağrı Cumhur Gök Özge Kaynar Leyli Şentürk Emrah Can Şahin Hamilçıkan |
| author_sort | Çağrı Cumhur Gök |
| collection | DOAJ |
| description | Bartter syndrome is an uncommon autosomal recessive, salt-losing renal tubular disease. Its defining features are numerous electrolyte abnormalities, including low potassium and chloride levels, metabolic alkalosis, and low or normal blood pressure. We reported a case of neonatal Bartter syndrome presenting with severe hypokalemia, hypochloremic metabolic alkalosis, polyuria, and renal failure in a 28-week premature born to consanguineous parents. She was successfully treated with oral indomethacin and potassium supplements. Genetic tests were resulted in Bartter syndrome Type 4a with mutations in the BSND gene. |
| first_indexed | 2024-04-10T04:06:10Z |
| format | Article |
| id | doaj.art-b67971ec44a04e18a8f4414df2f65e9d |
| institution | Directory Open Access Journal |
| issn | 2547-9431 |
| language | English |
| last_indexed | 2024-04-10T04:06:10Z |
| publishDate | 2023-03-01 |
| publisher | Galenos Yayinevi |
| record_format | Article |
| series | Bagcilar Medical Bulletin |
| spelling | doaj.art-b67971ec44a04e18a8f4414df2f65e9d2023-03-13T06:16:09ZengGalenos YayineviBagcilar Medical Bulletin2547-94312023-03-018110310610.4274/BMB.galenos.2023.2022-12-10313049054Bartter Type 4a Syndrome Diagnosed in a 30-week-old Preterm NeonateÇağrı Cumhur Gök0Özge Kaynar1Leyli Şentürk2Emrah Can3Şahin Hamilçıkan4 University of Health Sciences Turkey, İstanbul Bağcılar Training and Research Hospital, Clinic of Neonatal Intensive Care, İstanbul, Turkey University of Health Sciences Turkey, İstanbul Bağcılar Training and Research Hospital, Clinic of Genetics, İstanbul, Turkey University of Health Sciences Turkey, İstanbul Bağcılar Training and Research Hospital, Clinic of Neonatal Intensive Care, İstanbul, Turkey University of Health Sciences Turkey, İstanbul Bağcılar Training and Research Hospital, Clinic of Neonatal Intensive Care, İstanbul, Turkey University of Health Sciences Turkey, İstanbul Bağcılar Training and Research Hospital, Clinic of Neonatal Intensive Care, İstanbul, Turkey Bartter syndrome is an uncommon autosomal recessive, salt-losing renal tubular disease. Its defining features are numerous electrolyte abnormalities, including low potassium and chloride levels, metabolic alkalosis, and low or normal blood pressure. We reported a case of neonatal Bartter syndrome presenting with severe hypokalemia, hypochloremic metabolic alkalosis, polyuria, and renal failure in a 28-week premature born to consanguineous parents. She was successfully treated with oral indomethacin and potassium supplements. Genetic tests were resulted in Bartter syndrome Type 4a with mutations in the BSND gene. http://behmedicalbulletin.org/archives/archive-detail/article-preview/bartter-type-4a-syndrome-diagnosed-in-a-30-week-ol/58571 bartter syndromebsnd geneneonatepreterm |
| spellingShingle | Çağrı Cumhur Gök Özge Kaynar Leyli Şentürk Emrah Can Şahin Hamilçıkan Bartter Type 4a Syndrome Diagnosed in a 30-week-old Preterm Neonate Bagcilar Medical Bulletin bartter syndrome bsnd gene neonate preterm |
| title | Bartter Type 4a Syndrome Diagnosed in a 30-week-old Preterm Neonate |
| title_full | Bartter Type 4a Syndrome Diagnosed in a 30-week-old Preterm Neonate |
| title_fullStr | Bartter Type 4a Syndrome Diagnosed in a 30-week-old Preterm Neonate |
| title_full_unstemmed | Bartter Type 4a Syndrome Diagnosed in a 30-week-old Preterm Neonate |
| title_short | Bartter Type 4a Syndrome Diagnosed in a 30-week-old Preterm Neonate |
| title_sort | bartter type 4a syndrome diagnosed in a 30 week old preterm neonate |
| topic | bartter syndrome bsnd gene neonate preterm |
| url |
http://behmedicalbulletin.org/archives/archive-detail/article-preview/bartter-type-4a-syndrome-diagnosed-in-a-30-week-ol/58571
|
| work_keys_str_mv | AT cagrıcumhurgok barttertype4asyndromediagnosedina30weekoldpretermneonate AT ozgekaynar barttertype4asyndromediagnosedina30weekoldpretermneonate AT leylisenturk barttertype4asyndromediagnosedina30weekoldpretermneonate AT emrahcan barttertype4asyndromediagnosedina30weekoldpretermneonate AT sahinhamilcıkan barttertype4asyndromediagnosedina30weekoldpretermneonate |