Another case of cystic fibrosis complicated by meconium ileus associated with Hirschsprung’s disease: a rare and important association

Esposito, Ciro; Sammarco, Giuseppe; Fazio, Carolina; Alicchio, Francesca; Settimi, A

doi:10.1007/s00383-008-2199-4

Cited by 2 publications

(1 citation statement)

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“…In this context, it is of interest to note that immaturity of the myenteric plexus appeared to be the main etiological factor in newborns with meconium ileus without CF 61 62 . In addition, myenteric ganglionitis, aganglionosis, and neuronal dysplasia have all been found in CF patients with distal intestinal obstruction syndrome and meconium ileus 63 64 65 . These findings support the assumption that abnormalities of enteric ganglia might induce dysfunction of the gastrointestinal tract.…”

Section: Discussionmentioning

confidence: 99%

Expression of Cystic Fibrosis Transmembrane Conductance Regulator in Ganglia of Human Gastrointestinal Tract

Xue

Qiu

et al. 2016

Sci Rep

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CF is caused by mutations of the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR) which is an anion selective transmembrane ion channel that mainly regulates chloride transport, expressed in the epithelia of various organs. Recently, we have demonstrated CFTR expression in the brain, the spinal cord and the sympathetic ganglia. This study aims to investigate the expression and distribution of CFTR in the ganglia of the human gastrointestinal tract. Fresh tissue and formalin-fixed paraffin-embedded normal gastrointestinal tract samples were collected from eleven surgical patients and five autopsy cases. Immunohistochemistry, in situ hybridization, laser-assisted microdissection and nested reverse transcriptase polymerase chain reaction were performed. Expression of CFTR protein and mRNA was detected in neurons of the ganglia of all segments of the human gastrointestinal tract examined, including the stomach, duodenum, jejunum, ileum, cecum, appendix, colon and rectum. The extensive expression of CFTR in the enteric ganglia suggests that CFTR may play a role in the physiology of the innervation of the gastro-intestinal tract. The presence of dysfunctional CFTRs in enteric ganglia could, to a certain extent, explain the gastrointestinal symptoms frequently experienced by CF patients.

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Section: Discussionmentioning

confidence: 99%

Expression of Cystic Fibrosis Transmembrane Conductance Regulator in Ganglia of Human Gastrointestinal Tract

Xue

Qiu

et al. 2016

Sci Rep

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Neurogastroenterology and Motility Disorders of the Gastrointestinal Tract in Cystic Fibrosis

Patel,

Jose,

Baker

et al. 2023

Curr Gastroenterol Rep

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Another case of cystic fibrosis complicated by meconium ileus associated with Hirschsprung’s disease: a rare and important association

Abstract: We are reporting the case of a neonate which died on 16th day of life due to a fatal evolution of a rare association of cystic fibrosis and Hirschsprung's disease.

Cited by 2 publications

References 4 publications

Expression of Cystic Fibrosis Transmembrane Conductance Regulator in Ganglia of Human Gastrointestinal Tract

Expression of Cystic Fibrosis Transmembrane Conductance Regulator in Ganglia of Human Gastrointestinal Tract

Neurogastroenterology and Motility Disorders of the Gastrointestinal Tract in Cystic Fibrosis

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