The Turkish Journal of Pediatrics 2017 , Vol 59 , Num 1
Normal sweat chloride test does not rule out cystic fibrosis
Abdurrahman Erdem Başaran 1 ,Nimet Karataş-Torun 2 ,İbrahim Cemal Maslak 3 ,Ayşen Bingöl 1 ,Özgül M. Alper 4
1 Division of Pediatric Pulmonology, Department of Pediatrics, Akdeniz University Faculty of Medicine, Antalya, Turkey
2 Antalya Training and Research Hospital, Antalya, Turkey
3 Cengiz Gökçek Obstetrics and Children’s Hospital, Gaziantep, Turkey
4 Department of Medical Biology and Genetics, Akdeniz University Faculty of Medicine, Antalya, Turkey
DOI : 10.24953/turkjped.2017.01.011 Başaran AE, Karataş-Torun N, Maslak İC, Bingöl A, Alper ÖM. Normal sweat chloride test does not rule out cystic fibrosis. Turk J Pediatr 2017; 59: 68-70.

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. Keywords : pseudo-Bartter’s syndrome, cystic fibrosis, sweat test false negativity

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