Digestive outcomes in Cystic fibrosis

Ley, Delphine; Turck, Dominique

doi:10.1016/j.bpg.2022.101788

Cited by 13 publications

(17 citation statements)

References 39 publications

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“…Meconium ileus (MI) may be associated with IA and MP, which can be an early manifestation of cystic fibrosis (CF). CF is an autosomal recessive disease common in Caucasians, but nearly absent in Asians, which affects the respiratory tract, pancreas, gut, and hepatobiliary tract ( 5 , 6 ). CF should also be considered in infants that present with white stool, especially if combined with anemia and hypoproteinemia ( 7 ).…”

Section: Discussionmentioning

confidence: 99%

Meconium Peritonitis, Intestinal Atresia Combined With Biliary Atresia: A Case Report

Han

Chen

et al. 2022

Front. Pediatr.

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Meconium peritonitis (MP) combined with intestinal atresia (IA) is a rare neonatal condition, and it is even rarer in combination with biliary atresia (BA). We describe a case of an infant who developed short bowel syndrome after partial intestinal resection due to MP and IA, along with a Santullienterostomy. During continuous enteral and parenteral nutrition, the stool color became paler. BA was identified by elevated direct bilirubin (DBIL), gamma-glutamyltransferase (GGT), serum matrix metalloproteinase-7 (MMP-7), and hepatobiliary ultrasound; then, Kasai portoenterostomy (KPE) was performed promptly. The Roux-en-Y limb was adjusted intraoperatively to preserve the maximum length of the small intestine while closing the enterostomy. After the operation, the infant gradually adapted to enteral nutrition, his bilirubin level returned to normal, and his weight gradually caught up to the normal range. Although rare, BA should be suspected when MP is combined with IA and when the stool becomes paler in color in the enterostomy state.

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Section: Discussionmentioning

confidence: 99%

Meconium Peritonitis, Intestinal Atresia Combined With Biliary Atresia: A Case Report

Han

Chen

et al. 2022

Front. Pediatr.

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“…The recent advancement of modulator therapies designed to mitigate effects of the F508del mutation by increasing transport to the membrane and improving channel function holds great promise (4)(5)(6)(7), but this regimen requires expensive and continuous treatment (2). Moreover, the benefits of these therapies on alleviating GI issues remain unclear (1). Gene editing approaches, on the other hand, could offer a one-time cure applicable to all CF mutations, including the 10% of patients with rare mutations who are not candidates for modulator therapies (2).…”

Section: Introductionmentioning

confidence: 99%

“…Cystic fibrosis (CF) is an autosomal recessive disorder caused by mutations in the CF transmembrane conductance regulator (CFTR) gene ( 1 , 2 ). CFTR encodes a chloride channel key to balancing ion and water secretion and absorption in epithelial tissues.…”

Section: Introductionmentioning

confidence: 99%

“…CFTR encodes a chloride channel key to balancing ion and water secretion and absorption in epithelial tissues. CF patients experience multiorgan dysfunction; for example, CFTR defects cause mucus in several organs to thicken, leading to lung infections, a reduction in lung function, and poor digestive function in the gastrointestinal (GI) tract ( 1 , 3 ). While the respiratory tract is the primary organ system affected by the disease, CF patients also experience severe GI issues, particularly as their life expectancy has increased.…”

Section: Introductionmentioning

confidence: 99%

“…Notably, nutrition also affects pulmonary function and overall mortality ( 3 ). A majority (85%) of CF patients are born with pancreatic insufficiency ( 1 , 3 ). Other GI manifestations of CF include meconium ileus, gastroesophageal reflux disease, constipation, distal intestinal obstruction syndrome, recurrent pancreatitis, and cancer ( 1 ).…”

Section: Introductionmentioning

confidence: 99%

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In vivo correction of cystic fibrosis mediated by PNA nanoparticles

et al. 2022

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Cystic fibrosis (CF) is caused by mutations in the CF transmembrane conductance regulator (CFTR) gene. We sought to correct the multiple organ dysfunction of the F508del CF-causing mutation using systemic delivery of peptide nucleic acid gene editing technology mediated by biocompatible polymeric nanoparticles. We confirmed phenotypic and genotypic modification in vitro in primary nasal epithelial cells from F508del mice grown at air-liquid interface and in vivo in F508del mice following intravenous delivery. In vivo treatment resulted in a partial gain of CFTR function in epithelia as measured by in situ potential differences and Ussing chamber assays and correction of CFTR in both airway and GI tissues with no off-target effects above background. Our studies demonstrate that systemic gene editing is possible, and more specifically that intravenous delivery of PNA NPs designed to correct CF-causing mutations is a viable option to ameliorate CF in multiple affected organs.

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Cystic fibrosis and fat malabsorption: Pathophysiology of the cystic fibrosis gastrointestinal tract and the impact of highly effective CFTR modulator therapy

McDonald,

Reid,

Pohl

et al. 2024

Nut in Clin Prac

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Cystic fibrosis (CF) is a progressive, genetic, multi‐organ disease affecting the respiratory, digestive, endocrine, and reproductive systems. CF can affect any aspect of the gastrointestinal (GI) tract, including the esophagus, stomach, small intestine, colon, pancreas, liver, and gall bladder. GI pathophysiology associated with CF results from CF membrane conductance regulator (CFTR) dysfunction. The majority of people with CF (pwCF) experience exocrine pancreatic insufficiency resulting in malabsorption of nutrients and malnutrition. Additionally, other factors can cause or worsen fat malabsorption, including the potential for short gut syndrome with a history of meconium ileus, hepatobiliary diseases, and disrupted intraluminal factors, such as inadequate bile salts, abnormal pH, intestinal microbiome changes, and small intestinal bacterial overgrowth. Signs and symptoms associated with fat malabsorption, such as abdominal pain, bloating, malodorous flatus, gastroesophageal reflux, nausea, anorexia, steatorrhea, constipation, and distal intestinal obstruction syndrome, are seen in pwCF despite the use of pancreatic enzyme replacement therapy. Given the association of poor nutrition status with lung function decline and increased mortality, aggressive nutrition support is essential in CF care to optimize growth in children and to achieve and maintain a healthy body mass index in adults. The introduction of highly effective CFTR modulator therapy and other advances in CF care have profoundly changed the course of CF management. However, GI symptoms in some pwCF may persist. The use of current knowledge of the pathophysiology of the CF GI tract as well as appropriate, individualized management of GI symptoms continue to be integral components of care for pwCF.

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Digestive outcomes in Cystic fibrosis

Cited by 13 publications

References 39 publications

Meconium Peritonitis, Intestinal Atresia Combined With Biliary Atresia: A Case Report

Meconium Peritonitis, Intestinal Atresia Combined With Biliary Atresia: A Case Report

In vivo correction of cystic fibrosis mediated by PNA nanoparticles

Cystic fibrosis and fat malabsorption: Pathophysiology of the cystic fibrosis gastrointestinal tract and the impact of highly effective CFTR modulator therapy

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