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Prevalence of small bowel bacterial overgrowth in children with irritable bowel syndrome: A case-control study
Abstracts / Digestive and Liver Disease 40 (2008) A41–A118
A59
PP18 NEEDLELESS APPROACH TO THE DIAGNOSIS OF WILSON’S DISEASE THROUGH A DIRECT MOLECULAR APPROACH
PP19 PREVALENCE OF SMALL BOWEL BACTERIAL OVERGROWTH IN CHILDREN WITH IRRITABLE BOWEL SYNDROME: A CASE-CONTROL STUDY
E. Pantani a , G. Loudianos c , C. Centenari a , S. Caprai b , P. Vitucci a , G. Palla a , C. Ughi a , G. Maggiore a
V. Giorgio a , E. Scarpellini b , D. Roccarina b , G. Cammarota b , A. Pantanella a , C. Fundarò a
a
a Pediatric Department, Catholic University of Sacred Heart, Rome, Italy b Internal Medicine Department, Catholic University of Sacred Heart, Rome, Italy
Department of Pediatrics, Gastrointestinal and Liver Section, University Hospital of Pisa, Italy b Pediatric Unit of Pondedera Hospital, Italy c Department of Scienze Biomediche e Biotecnologie, USC, Cagliari, Italy Wilson disease is a rare, treatable, autosomal recessive disorder of copper metabolism that is caused by mutations in the ATP7B gene. For diagnostic purposes ATP7B gene mutation analysis is performed usually only in screening of first degree relatives and not as a direct diagnostic approach. Patients and methods. We retrospectively reviewed the records of the last 10 diagnosed patients (7 male, median age at diagnosis 7 years; range 4–16 years) presenting as an isolated liver disease. Kayser–Fleischer ring was absent in all. Diagnosis was made on laboratory findings (serum ceruloplasmin concentration, 24-h urinary copper excretion basal and after d-penicillamine challenge) and on liver biopsy with measure of hepatic copper concentration (six subjects) All patients had ceruloplasmin concentration <20 mg/dl, 8 a 24-h urinary copper excretion >100 g, 3 a d-penicillamine challenge >1592 g, and 3 had a hepatic copper concentration >50 mg/g dry weight. Mutation analysis of the ATP7B gene was performed in eight patients demonstrating diseasecausing mutations in seven (all compound heterozygotes) and absence of mutations in one. Results. Direct molecular approach to confirm diagnosis of WD was attempted in the last 3 asymptomatic patients with normal liver function: 3 had ceruloplasmin concentration <20 mg/dl, 2 a 24-h urinary copper excretion >100 g and 1 a 24-h urinary copper excretion after d-penicillamine challenge >1592 g. Molecular analysis of ATP7B gene mutations showed in all a compound heterozygousy for disease causing mutations: G591D/2121+3A → G in one and R778W/H1069Q in the two others. Conclusions. Direct molecular diagnostic approach in asymptomatic patients with copper metabolism abnormalities suggesting WD may allow a direct needleless diagnosis of WD thus avoiding liver biopsy. We suggest that this diagnostic approach should be performed in presymptomatic patients presenting as a liver disease with normal liver function. doi:10.1016/j.dld.2008.07.203
Background. Small intestinal bacterial overgrowth (SIBO) is a condition characterized by abnormally high bacterial population level in the small intestine, exceeding 106 organisms/ml. Recent data suggest that SIBO could play a role in irritable bowel syndrome (IBS) in adults. Few studies are actually available assessing the prevalence of SIBO in children and no data exist about SIBO prevalence in children affected by IBS. Aim. Aim of this study was to assess SIBO prevalence in IBS children with respect to healthy controls. Methods. Forty-three consecutive IBS children according to Rome II criteria were enrolled (17 males/26 females, mean age 9.5 ± 4 years). Eleven patients (25%) were classified as post-infectious IBS (PI-IBS) on the basis of microbiological tests. The control population accounted of 56 sex and age matched healthy children (22 males/34 females, mean age 10 ± 3.9 years). SIBO diagnosis was based on lactulose breath test (LBT) positivity according standard criteria (two distinct peaks, consisting of two consecutive H2 values > 10 p.p.m. above the basal value after 10 g lactulose ingestion). Results. LBT positivity was found in 56% of IBS children (24/43) with respect to 5.3% of healthy controls (3/56). The difference between the two groups was statistically significant (p < 0.01). SIBO prevalence was similar between PI-IBS and non PI-IBS patients (p = ns). Conclusions. This is the first case-control study testing SIBO prevalence in IBS children. Our results seem to suggest a significant association between SIBO and IBS. Further researches are needed to confirm this findings and evaluate the role of SIBO decontamination on IBS symptoms. doi:10.1016/j.dld.2008.07.204
A59
PP18 NEEDLELESS APPROACH TO THE DIAGNOSIS OF WILSON’S DISEASE THROUGH A DIRECT MOLECULAR APPROACH
PP19 PREVALENCE OF SMALL BOWEL BACTERIAL OVERGROWTH IN CHILDREN WITH IRRITABLE BOWEL SYNDROME: A CASE-CONTROL STUDY
E. Pantani a , G. Loudianos c , C. Centenari a , S. Caprai b , P. Vitucci a , G. Palla a , C. Ughi a , G. Maggiore a
V. Giorgio a , E. Scarpellini b , D. Roccarina b , G. Cammarota b , A. Pantanella a , C. Fundarò a
a
a Pediatric Department, Catholic University of Sacred Heart, Rome, Italy b Internal Medicine Department, Catholic University of Sacred Heart, Rome, Italy
Department of Pediatrics, Gastrointestinal and Liver Section, University Hospital of Pisa, Italy b Pediatric Unit of Pondedera Hospital, Italy c Department of Scienze Biomediche e Biotecnologie, USC, Cagliari, Italy Wilson disease is a rare, treatable, autosomal recessive disorder of copper metabolism that is caused by mutations in the ATP7B gene. For diagnostic purposes ATP7B gene mutation analysis is performed usually only in screening of first degree relatives and not as a direct diagnostic approach. Patients and methods. We retrospectively reviewed the records of the last 10 diagnosed patients (7 male, median age at diagnosis 7 years; range 4–16 years) presenting as an isolated liver disease. Kayser–Fleischer ring was absent in all. Diagnosis was made on laboratory findings (serum ceruloplasmin concentration, 24-h urinary copper excretion basal and after d-penicillamine challenge) and on liver biopsy with measure of hepatic copper concentration (six subjects) All patients had ceruloplasmin concentration <20 mg/dl, 8 a 24-h urinary copper excretion >100 g, 3 a d-penicillamine challenge >1592 g, and 3 had a hepatic copper concentration >50 mg/g dry weight. Mutation analysis of the ATP7B gene was performed in eight patients demonstrating diseasecausing mutations in seven (all compound heterozygotes) and absence of mutations in one. Results. Direct molecular approach to confirm diagnosis of WD was attempted in the last 3 asymptomatic patients with normal liver function: 3 had ceruloplasmin concentration <20 mg/dl, 2 a 24-h urinary copper excretion >100 g and 1 a 24-h urinary copper excretion after d-penicillamine challenge >1592 g. Molecular analysis of ATP7B gene mutations showed in all a compound heterozygousy for disease causing mutations: G591D/2121+3A → G in one and R778W/H1069Q in the two others. Conclusions. Direct molecular diagnostic approach in asymptomatic patients with copper metabolism abnormalities suggesting WD may allow a direct needleless diagnosis of WD thus avoiding liver biopsy. We suggest that this diagnostic approach should be performed in presymptomatic patients presenting as a liver disease with normal liver function. doi:10.1016/j.dld.2008.07.203
Background. Small intestinal bacterial overgrowth (SIBO) is a condition characterized by abnormally high bacterial population level in the small intestine, exceeding 106 organisms/ml. Recent data suggest that SIBO could play a role in irritable bowel syndrome (IBS) in adults. Few studies are actually available assessing the prevalence of SIBO in children and no data exist about SIBO prevalence in children affected by IBS. Aim. Aim of this study was to assess SIBO prevalence in IBS children with respect to healthy controls. Methods. Forty-three consecutive IBS children according to Rome II criteria were enrolled (17 males/26 females, mean age 9.5 ± 4 years). Eleven patients (25%) were classified as post-infectious IBS (PI-IBS) on the basis of microbiological tests. The control population accounted of 56 sex and age matched healthy children (22 males/34 females, mean age 10 ± 3.9 years). SIBO diagnosis was based on lactulose breath test (LBT) positivity according standard criteria (two distinct peaks, consisting of two consecutive H2 values > 10 p.p.m. above the basal value after 10 g lactulose ingestion). Results. LBT positivity was found in 56% of IBS children (24/43) with respect to 5.3% of healthy controls (3/56). The difference between the two groups was statistically significant (p < 0.01). SIBO prevalence was similar between PI-IBS and non PI-IBS patients (p = ns). Conclusions. This is the first case-control study testing SIBO prevalence in IBS children. Our results seem to suggest a significant association between SIBO and IBS. Further researches are needed to confirm this findings and evaluate the role of SIBO decontamination on IBS symptoms. doi:10.1016/j.dld.2008.07.204