Normal sweat chloride test does not rule out cystic fibrosis.
Turk J Pediatr
; 59(1): 68-70, 2017.
Article
en En
| MEDLINE
| ID: mdl-29168366
ABSTRACT
Basaran AE, Karatas-Torun N, Maslak IC, 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.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Asunto principal:
Sudor
/
Cloruros
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Regulador de Conductancia de Transmembrana de Fibrosis Quística
/
Fibrosis Quística
Límite:
Humans
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Infant
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Male
Idioma:
En
Revista:
Turk J Pediatr
Año:
2017
Tipo del documento:
Article
País de afiliación:
Turquía