title: [Genotype-phenotype correlation in a sample of Mexican patients with cystic fibrosis].
abstract: BACKGROUND
  Cystic fibrosis is a lethal autosomal recessive disease, commonly seen in Caucasian population. The World Health Organization (WHO) estimated that in Mexico, the incidence is approximately 1 per 8,500 live births. Defects in CFTR (cystic fibrosis transmembrane conductance regulator) protein are responsible for alterations in the transport of chloride in the apical membrane of exocrine epithelial cells. This results to a lot of variability in the clinical manifestations, which range from a very serious disease that compromises the life of the patient, to only primary infertility due to absence of CBAVD. The study of the CFTR gene, responsible for this entity, has led to understand the correlation between the molecular defects in this gene and the clinical expression of the patients. Most reports show that only pancreatic function in CF patients directly correlated with genotype and not with other clinical features such as lung disease.
  
  
  OBJECTIVE
  In this work we analyzed the genotype-phenotype correlation in a cohort of Mexican patients with CF.
  
  
  METHODS
  We included 230 patients with CF, stratified based on the genotype and pancreatic disease. Both ratings were correlated with clinical parameters as in sweat chloride levels, lung disease, pancreatic insufficiency or sufficiency (IP and SP) and colonization by Pseudomonas aeruginosa (P. aeruginosa).
  
  
  CONCLUSIONS
  Our data suggest a strong correlation between the severity of mutations and pancreatic function. Related to this, significant differences were observed in sweat chloride levels, lung disease, colonization by P. aeruginosa, and the age of onset of symptoms, and diagnosis among patients with IP and SP (p < 0.001). The close correlation between IP, both with mutations that eliminate the function of CFTR gene, as with the presence of more serious clinical picture, suggests that IP could be used as an indicator of the severity of CF patients especially in those without characterized mutations yet.
authors.forename: Emiy
authors.initials: E
authors.lastname: Yokoyama
authors.forename: José Luis
authors.initials: JL
authors.lastname: Lezana
authors.forename: Rosa María
authors.initials: RM
authors.lastname: Vigueras-Villaseñor
authors.forename: Julio
authors.initials: J
authors.lastname: Rojas-Castañeda
authors.forename: Yolanda
authors.initials: Y
authors.lastname: Saldaña-Álvarez
authors.forename: Lorena
authors.initials: L
authors.lastname: Orozco
authors.forename: Margarita
authors.initials: M
authors.lastname: Chávez-Saldaña
mesh_terms: D017668:Age of Onset; D002712:Chlorides / Q000032:analysis; D015331:Cohort Studies; D003550:Cystic Fibrosis / Q000150:complications / Q000453:epidemiology / Q000235:genetics; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004252:DNA Mutational Analysis; D010188:Exocrine Pancreatic Insufficiency / Q000209:etiology; D005243:Feces / Q000737:chemistry; D005838:Genotype; D006801:Humans; D008055:Lipids / Q000032:analysis; D008168:Lung / Q000503:physiopathology; D008800:Mexico / Q000453:epidemiology; D010179:Pancreas / Q000503:physiopathology; D010641:Phenotype; D018410:Pneumonia, Bacterial / Q000453:epidemiology / Q000209:etiology; D011552:Pseudomonas Infections / Q000453:epidemiology / Q000209:etiology; D013147:Spirometry; D013542:Sweat / Q000737:chemistry
chemical_list: C505032:CFTR protein, human; D002712:Chlorides; D008055:Lipids; D019005:Cystic Fibrosis Transmembrane Conductance Regulator