Patterns of GI disease in adulthood associated with mutations in the CFTR gene

Wilschanski, Michael; Durie, Peter R.

doi:10.1136/gut.2004.062786

Cited by 146 publications

(131 citation statements)

References 67 publications

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“…A wide variety of hepatobiliary disorders are described in adult CF patients, ranging from common moderate elevation of aminotransferase to cirrhosis to intrahepatic biliary changes resembling primary sclerosing cholangitis [26,27]. Despite the frequency of CF-related disease in our population (32%), we did not establish a link between this disease and the presence of anti-actin, anti-LKM1 or anti-M2 auto-antibodies.…”

Section: Discussioncontrasting

confidence: 41%

Prevalence and clinical significance of auto-antibodies in adults with cystic fibrosis

Lachenal

Nkana²,

Nové-Josserand³

et al. 2009

Eur Respir J

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The aim of this study was to determine the prevalence of different auto-antibodies in adult, French cystic fibrosis (CF) patients and to look for a correlation between autoimmunity, patient characteristics and survival.The sera of 144 patients were screened for a wide range of antibodies. Clinical, biological and bacteriological characteristics and the cystic fibrosis transmembrane conductance regulator genotype were recorded and progression of lung disease was examined.113 (78.5%) patients displayed one or several auto-antibodies, predominantly immunoglobulin (Ig)A anti-Saccharomyces cerevisiae antibodies (ASCA; 43.7%) and antineutrophil cytoplasmic antibodies (ANCA; 40%), of which 59% showed bactericidal/permeability-increasing protein (BPI) specificity. The presence of BPI-ANCA was associated with the number of antibiotic courses, low body mass index, Pseudomonas aeruginosa colonisation, the presence of resistant P. aeruginosa, low forced expiratory volume in 1 s, CF-related liver disease, hypergammaglobulinaemia, male sex and inflammatory syndrome. The presence of ASCA-IgA was correlated with male sex and hypergammaglobulinaemia. 41 patients presented with chronic respiratory failure and/or requested lung transplantation or died during follow-up. These events were more frequent in patients with BPI-ANCA or ASCA-IgA.These findings confirm the high frequency of auto-antibodies in CF, particularly BPI-ANCA and ASCA-IgA, and the link between BPI-ANCA, severity of lung disease and CF prognosis.

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Section: Discussioncontrasting

confidence: 41%

Prevalence and clinical significance of auto-antibodies in adults with cystic fibrosis

Lachenal

Nkana²,

Nové-Josserand³

et al. 2009

Eur Respir J

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“…A small proportion (2-3%) of patients carrying severe mutations on both alleles are pancreatic sufficient (PS) at diagnosis, but most experience gradual transition from PS to PI (Waters et al,1990;Wilschanski & Durie, 2007). It is well established that PS-CF patients, who are often diagnosed at an older age, with more subtle disease manifestations, have mean sweat chloride values that are significantly lower than the current diagnostic reference criteria of 60 mmol/L (Farrell et al, 2008;Gilljam et al, 2004).…”

Section: Cystic Fibrosis (Mucoviscidosis)mentioning

confidence: 99%

Pancreatitis in Cystic Fibrosis and CFTR-Related Disorder

Coffey¹,

Ooi²

2012

Acute Pancreatitis

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“…Focusing on the extracellular effects of CF, in this issue of the JCI, Garcia and colleagues report on their investigation of the roles of HCO 3 -and CFTR in stimulated release of mucin from the mouse small intestine (6). Secreted mucin in the gut is largely released by goblet cells, which are interspersed among enterocytes in the lining epithelium (Figure 1), and goblet cells are also similarly situated in the airway epithelium.…”

Section: The Basic Defect In Cfmentioning

confidence: 99%

“…Secreted mucin in the gut is largely released by goblet cells, which are interspersed among enterocytes in the lining epithelium (Figure 1), and goblet cells are also similarly situated in the airway epithelium. HCO 3 -secretion at the luminal surface of epithelia involves CFTR by at least two mechanisms ( Figure 2). CFTR indirectly supports HCO 3 -transport by providing luminal chloride, which is then exchanged for HCO 3 -(by various anion exchangers) across the luminal plasma membrane (2).…”

Section: The Basic Defect In Cfmentioning

confidence: 99%

Pass the bicarb: the importance of HCO3– for mucin release

Lisle¹

2009

J. Clin. Invest.

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Accumulation of thick, sticky mucus is a hallmark of the genetic disease cystic fibrosis (CF) and has a central role in CF pathophysiology. Mutations in the CF transmembrane regulator (CFTR) ion channel are known to result in abnormally thick and sticky mucus; however, why mucus accumulates in CF is still not completely understood. In this issue of the JCI, Garcia and colleagues show that mucin -the heavily glycosylated protein contained within mucus -requires CFTR and bicarbonate in order to be released from mouse intestine (see the related article beginning on page 2613). The authors propose a model whereby CFTR-mediated bicarbonate secretion must be concurrent with mucin exocytosis for proper mucin release.

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Patterns of GI disease in adulthood associated with mutations in the CFTR gene

Cited by 146 publications

References 67 publications

Prevalence and clinical significance of auto-antibodies in adults with cystic fibrosis

Prevalence and clinical significance of auto-antibodies in adults with cystic fibrosis

Pancreatitis in Cystic Fibrosis and CFTR-Related Disorder

Pass the bicarb: the importance of HCO3– for mucin release

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