Normal sweat chloride test does not rule out cystic fibrosis
A 5-month-old patient presented with complaints of fever and cough. He was hospitalized with the diagnosis of bronchopneumonia and pseudo-Bartter's syndrome. Patient was further investigated for diagnosis of cystic fibrosis. The chloride (Cl) level in sweat was determined within the normal ran...
Saved in:
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Hacettepe University Institute of Child Health
2017-02-01
|
| Series: | The Turkish Journal of Pediatrics |
| Subjects: | |
| Online Access: | https://turkjpediatr.org/article/view/950 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1850041801962946560 |
|---|---|
| author | Abdurrahman Erdem Başaran Nimet Karataş-Torun İbrahim Cemal Maslak Ayşen Bingöl Özgül M Alper |
| author_facet | Abdurrahman Erdem Başaran Nimet Karataş-Torun İbrahim Cemal Maslak Ayşen Bingöl Özgül M Alper |
| author_sort | Abdurrahman Erdem Başaran |
| collection | DOAJ |
| description |
A 5-month-old patient presented with complaints of fever and cough. He was hospitalized with the diagnosis of bronchopneumonia and pseudo-Bartter's syndrome. Patient was further investigated for diagnosis of cystic fibrosis. The chloride (Cl) level in sweat was determined within the normal range (25.1 mmol/L, 20.3 mmol/L). CFTR (Cystic Fibrosis Transmembrane Regulator gene; NM_000492.2) genotyping results were positive for p.E92K; p.F1052V mutations. The patient was diagnosed with cystic fibrosis. In our patient, with features of CF and normal sweat test, mutation analysis was helpful for the diagnosis of cystic fibrosis.
|
| format | Article |
| id | doaj-art-765ffe53de8e460bacf27e669ef10e28 |
| institution | DOAJ |
| issn | 0041-4301 2791-6421 |
| language | English |
| publishDate | 2017-02-01 |
| publisher | Hacettepe University Institute of Child Health |
| record_format | Article |
| series | The Turkish Journal of Pediatrics |
| spelling | doaj-art-765ffe53de8e460bacf27e669ef10e282025-08-20T02:55:41ZengHacettepe University Institute of Child HealthThe Turkish Journal of Pediatrics0041-43012791-64212017-02-0159110.24953/turkjped.2017.01.011Normal sweat chloride test does not rule out cystic fibrosisAbdurrahman Erdem Başaran0Nimet Karataş-Torun1İbrahim Cemal Maslak2Ayşen Bingöl3Özgül M Alper4Division of Pediatric Pulmonology, Department of Pediatrics, Akdeniz University Faculty of Medicine, Antalya, Turkey.Antalya Training and Research Hospital, Antalya, Turkey.Cengiz Gökçek Obstetrics and Children's Hospital, Gaziantep, Turkey.Division of Pediatric Pulmonology, Department of Pediatrics, Akdeniz University Faculty of Medicine, Antalya, Turkey.Department of Medical Biology and Genetics, Akdeniz University Faculty of Medicine, Antalya, Turkey. A 5-month-old patient presented with complaints of fever and cough. He was hospitalized with the diagnosis of bronchopneumonia and pseudo-Bartter's syndrome. Patient was further investigated for diagnosis of cystic fibrosis. The chloride (Cl) level in sweat was determined within the normal range (25.1 mmol/L, 20.3 mmol/L). CFTR (Cystic Fibrosis Transmembrane Regulator gene; NM_000492.2) genotyping results were positive for p.E92K; p.F1052V mutations. The patient was diagnosed with cystic fibrosis. In our patient, with features of CF and normal sweat test, mutation analysis was helpful for the diagnosis of cystic fibrosis. https://turkjpediatr.org/article/view/950cystic fibrosispseudo-Bartter’s syndromesweat test false negativity |
| spellingShingle | Abdurrahman Erdem Başaran Nimet Karataş-Torun İbrahim Cemal Maslak Ayşen Bingöl Özgül M Alper Normal sweat chloride test does not rule out cystic fibrosis The Turkish Journal of Pediatrics cystic fibrosis pseudo-Bartter’s syndrome sweat test false negativity |
| title | Normal sweat chloride test does not rule out cystic fibrosis |
| title_full | Normal sweat chloride test does not rule out cystic fibrosis |
| title_fullStr | Normal sweat chloride test does not rule out cystic fibrosis |
| title_full_unstemmed | Normal sweat chloride test does not rule out cystic fibrosis |
| title_short | Normal sweat chloride test does not rule out cystic fibrosis |
| title_sort | normal sweat chloride test does not rule out cystic fibrosis |
| topic | cystic fibrosis pseudo-Bartter’s syndrome sweat test false negativity |
| url | https://turkjpediatr.org/article/view/950 |
| work_keys_str_mv | AT abdurrahmanerdembasaran normalsweatchloridetestdoesnotruleoutcysticfibrosis AT nimetkaratastorun normalsweatchloridetestdoesnotruleoutcysticfibrosis AT ibrahimcemalmaslak normalsweatchloridetestdoesnotruleoutcysticfibrosis AT aysenbingol normalsweatchloridetestdoesnotruleoutcysticfibrosis AT ozgulmalper normalsweatchloridetestdoesnotruleoutcysticfibrosis |