Normal sweat chloride test does not rule out cystic fibrosis

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BAŞARAN A. E., Karatas-Torun N., Maslak I. C., BİNGÖL A., Alper O. M.

TURKISH JOURNAL OF PEDIATRICS, cilt.59, sa.1, ss.68-70, 2017 (SCI-Expanded)

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 59 Sayı: 1
  • Basım Tarihi: 2017
  • Doi Numarası: 10.24953/turkjped.2017.01.011
  • Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.68-70
  • Anahtar Kelimeler: pseudo-Bartter's syndrome, cystic fibrosis, sweat test false negativity, CFTR GENE, TRANSMEMBRANE DOMAIN, MUTATIONS, DIAGNOSIS
  • Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
  • Akdeniz Üniversitesi Adresli: Evet

Özet

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.