ABSTRACT
BACKGROUND: Cystic fibrosis (CF) is due to dysfunction of the CFTR channel and function of this channel is, in turn, affected by modifier genes that can impact the clinical phenotype. In this context, we analyzed the interaction among rs3788766*SLC6A14, rs7512462*SLC26A9, rs17235416*SLC11A1, and rs17563161*SLC9A3 variants, CFTR mutations and 40 CF severity markers by the Multifactor Dimensionality Reduction (MDR) model. METHODS: A total of 164 patients with CF were included in the study. The variants in the modifier genes were identified by real-time PCR and the genotype of the CFTR gene in the diagnostic routine. Analysis of interaction between variants, CFTR mutations groupings and demographic, clinical and laboratory data were performed by the MDR. RESULTS: There were interaction between the rs3788766, rs7512462, rs17235416, and rs17563161 variants, and CFTR mutations with pancreatic insufficiency (PI), onset of digestive symptoms, and presence of mucoid Pseudomonas aeruginosa. Regarding PI, the interaction was observed for CFTR*rs17563161 (P-value = 0.015). Also, for onset of digestive symptoms the interaction was observed for CFTR*rs3788766*rs7512462*rs17235416*rs17563161 (P-value = 0.036). Considering the presence of mucoid P. aeruginosa, the interaction occurred for CFTR*rs3788766*rs7512462*rs17563161 (P-value = 0.035). CONCLUSION: Interaction between variants in the SLC family genes and the grouping for CFTR mutations were associated with PI, onset of digestive symptoms and mucoid P. aeruginosa, being important to determine one of the factors that may cause the diversity among the patients with CF.
Subject(s)
Cystic Fibrosis/genetics , Exocrine Pancreatic Insufficiency/genetics , Membrane Transport Proteins/genetics , Pseudomonas Infections/genetics , Adolescent , Adult , Aged , Biomarkers , Child , Child, Preschool , Cystic Fibrosis/complications , Cystic Fibrosis/microbiology , Exocrine Pancreatic Insufficiency/complications , Exocrine Pancreatic Insufficiency/microbiology , Female , Genotype , Humans , Infant , Male , Middle Aged , Mutation , Phenotype , Pseudomonas Infections/complications , Pseudomonas Infections/microbiology , Pseudomonas aeruginosa , Young AdultABSTRACT
BACKGROUND: Previous reports describe 30-40% of small intestine bacterial overgrowth (SIBO) in patients with chronic pancreatitis (CP), SIBO is a cause of persistent symptoms in this group of patients even when they are treated with pancreatic enzymes. AIM: To asses the frequency of SIBO in patients with CP. PATIENTS AND METHODS: We studied 14 patients with CP using an hydrogen breath test with lactulose to detect SIBO, a nonabsorbable carbohydrate, whose results are not influenced by the presence of exocrine insufficiency. Main symptoms and signs were bloating in 9 (64%), recurrent abdominal pain in 8 (57%), intermittent diarrhea in 5 (36%) and steatorrhea in 5 (36%). At the same time we studied a healthy control group paired by age and sex. RESULTS: SIBO was present in 13 of 14 patients with CP (92%) and in 1 of 14 controls (p<0.001). The only patient with CP and without SIBO was recently diagnosed and had minimal morphologic alterations in computed tomography and endoscopic pancreatography. CONCLUSIONS: SIBO is common in CP and may be responsible for persistent symptoms. Proper diagnosis and treatment could alleviate symptoms and improve quality of Ufe.
Subject(s)
Bacteria/growth & development , Bacterial Infections/diagnosis , Intestine, Small/microbiology , Lactulose , Pancreatitis, Chronic/microbiology , Adult , Aged , Bacteria/isolation & purification , Breath Tests , Case-Control Studies , Chile , Diarrhea/microbiology , Dietary Carbohydrates/metabolism , Exocrine Pancreatic Insufficiency/diagnosis , Exocrine Pancreatic Insufficiency/microbiology , Female , Humans , Hydrogen/analysis , Male , Middle Aged , Pancreatitis, Chronic/diagnosis , Young AdultABSTRACT
Background: Previous reports describe 30-40 percent of small intestine bacterial overgrowth (SIBO) in patients with chronic pancreatitis (CP), SIBO is a cause of persistent symptoms in this group of patients even when they are treated with pancreatic enzymes. Aim: To asses the frequency of SIBO in patients with CP. Patients and methods: We studied 14 patients with CP using an hydrogen breath test with lactulose to detect SIBO, a nonabsorbable carbohydrate, whose results are not influenced by the presence of exocrine insufficiency. Main symptoms and signs were bloating in 9 (64 percent), recurrent abdominal pain in 8 (57 percent), intermittent diarrhea in 5 (36 percent) and steatorrhea in 5 (36 percent). At the same time we studied a healthy control group paired by age and sex. Results: SIBO was present in 13 of 14 patients with CP (92 percent) and in 1 of 14 controls (p<0.001). The only patient with CP and without SIBO was recently diagnosed and had minimal morphologic alterations in computed tomography and endoscopic pancreatography Conclusions: SIBO is common in CP and may be responsible for persistent symptoms. Proper diagnosis and treatment could alleviate symptoms and improve quality of life.