title: Clinical presentation of cystic fibrosis at the time of diagnosis: a multicenter study in a region without newborn screening.
abstract: OBJECTIVE
  Cystic fibrosis is the most common inherited lethal disease, which could be frequently identified late in regions without newborn screening. There are dramatically better outcomes in the early diagnosis of cystic fibrosis patients. This study aimed to evaluate the spectrum of manifestations of cystic fibrosis at first admission leading to diagnosis.
  
  
  METHODS
  This study was performed in a multi-referral pediatrics center in Iran. Data of patients with cystic fibrosis at the time of diagnosis were recorded based on a checklist denoting demographic characteristics, clinical and laboratory features. All of the patients had two documented sweat chloride tests.
  
  
  RESULTS
  One hundred and ninety seven patients with cystic fibrosis were enrolled in this study. Among them, 119 patients (74%) were less than six months and 34 patients (21%) were between 6 and 12 months of age. The most common clinical findings were failure to thrive, recurrent pulmonary infections, and steatorrhea in 178 (90%), 139 (71%), and 135 (69%) patients, respectively. The most common radiologic abnormality was hyperaeration. In patients with salty tasting skin, steatorrhea, metabolic alkalosis, radiologic findings, and liver function abnormalities, the mean age at the time of diagnosis was significantly low than in the subjects without these findings.
  
  
  CONCLUSIONS
  This study suggests that some conditions such as failure to thrive, recurrent respiratory infections, steatorrhea, metabolic alkalosis, and salty tasting skin should be considered as clinical screening tools for cystic fibrosis, especially in regions with high rate of cystic fibrosis. In these regions, awareness and clinical suspicion of medical professionals are crucial for early diagnosis of cystic fibrosis patients in the pre-diagnostic period.
authors.forename: Fatemeh
authors.initials: F
authors.lastname: Farahmand
authors.affiliation: Research Center for Children and Adolescents Health, Zahedan University of Medical Sciences, Tehran, Islamic Republic of Iran.
authors.forename: Manijeh
authors.initials: M
authors.lastname: Khalili
authors.forename: Leila
authors.initials: L
authors.lastname: Shahbaznejad
authors.forename: Armin
authors.initials: A
authors.lastname: Hirbod-Mobarakeh
authors.forename: Mehri
authors.initials: M
authors.lastname: Najafi Sani
authors.forename: Ahmad
authors.initials: A
authors.lastname: Khodadad
authors.forename: Farzaneh
authors.initials: F
authors.lastname: Motamed
authors.forename: Nima
authors.initials: N
authors.lastname: Rezaei
mesh_terms: D000367:Age Factors; D000471:Alkalosis / Q000209:etiology; D002648:Child; D002675:Child, Preschool; D003550:Cystic Fibrosis / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics; D042241:Early Diagnosis; D005183:Failure to Thrive / Q000209:etiology*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007492:Iran; D008297:Male; D015997:Neonatal Screening; D012008:Recurrence; D012141:Respiratory Tract Infections / Q000209:etiology*; D012189:Retrospective Studies; D045602:Steatorrhea / Q000209:etiology*