China
Africa
Explore chapters and articles related to this topic
Cystic Fibrosis and Pancreatic Disease
Published in Praveen S. Goday, Cassandra L. S. Walia, Pediatric Nutrition for Dietitians, 2022
Elissa M. Downs, Jillian K. Mai, Sarah Jane Schwarzenberg
Initial surgical interventions may include disimpaction of meconium ileus and repair of any associated intestinal atresia or perforation. For those patients with poor growth over time, feeding tube placement may be required to supplement additional energy. Bronchoscopy with broncho-alveolar lavage may be indicated during acute exacerbations. For those with declining lung function and advanced CF lung disease, double lung transplantation is a consideration if aggressive therapies have failed. As CFTR modulators become more available at younger ages, it is possible that some surgical interventions will become less frequent.
Paper 3
Published in Amanda Rabone, Benedict Thomson, Nicky Dineen, Vincent Helyar, Aidan Shaw, The Final FRCR, 2020
Amanda Rabone, Benedict Thomson, Nicky Dineen, Vincent Helyar, Aidan Shaw
The finding of a microcolon indicates it has not developed normally in-utero due to intestinal pathology such as atresia or meconium ileus. Meconium ileus is associated with cystic fibrosis. Radiological findings include dilated distal small bowel loops with filling defects in the distal ileum and proximal large bowel due to meconium. There is associated microcolon affecting the entire colon.
Respiratory system
Published in Jagdish M. Gupta, John Beveridge, MCQs in Paediatrics, 2020
Jagdish M. Gupta, John Beveridge
In cystic fibrosis heterozygotes cannot be identified by the sweat test; males are sterile because of the abnormalities of the vas deferens. It may present with intestinal obstruction due to meconium ileus in the newborn. At present the life expectancy is more than 20 years. Although fat is usually present in the stools, its absence does not exclude the diagnosis.
An update on guanylyl cyclase C in the diagnosis, chemoprevention, and treatment of colorectal cancer
Published in Expert Review of Clinical Pharmacology, 2020
Jeffrey A. Rappaport, Scott A. Waldman
Disorders of the GUCY2C/cGMP signaling axis result in intestinal secretion syndromes. GUCY2C was originally discovered as the receptor for the bacterial heat stable enterotoxins, STs, the agents responsible for traveler’s diarrhea [39]. STs are a family of peptides sharing a conserved C-terminal region, which is processed to a mature peptide with three disulfide bonds conferring heat and pH stability [4,53]. Enterotoxigenic bacteria, such as E. coli, K. pneumonia, V. cholera, and Y. enterocolitica, colonize the gut and secrete these peptides, which have high affinity for the GUCY2C extracellular domain and produce uncontrolled CFTR-mediated secretion, manifesting as secretory diarrhea [4,53]. In addition to aberrant agonist stimulation, mutations in GUCY2C itself have been reported in small populations, resulting in hereditary hypo- and hyper-secretion syndromes. The recently described familial GUCY2C diarrhea syndrome arises from a single missense mutation in the GUCY2C catalytic domain, producing receptor hyperactivation [54–56]. Conversely, hereditary inactivating mutations in the ligand-binding and catalytic domains produce meconium ileus (neonatal intestinal obstruction), due to diminished intestinal secretion and stool motility [57,58].
Evaluation of noninvasive markers for the diagnosis of cystic fibrosis liver disease
Published in Scandinavian Journal of Gastroenterology, 2018
Alexandra Alexopoulou, Sophia Pouriki, Larisa Vasilieva, Theodoros Alexopoulos, Vasiliki Filaditaki, Maria Gioka, Filia Diamantea, Spyros P. Dourakis
No difference in age, gender, clinical presentation, history of meconium ileus at diagnosis, CFTR mutations, age, BMI, forced expiratory volume in 1 second, forced volume capacity, pancreatic insufficiency at enrollment, lung transplantation and mortality at the end of follow-up was shown between CFLD and no CFLD group according to NC (Table 1). However, AST, ALP, GGT and INR differed significantly between two groups according to NC (Table 1).
Laparoscopy-Assisted Versus Open Surgery in Treating Intestinal Atresia: Single Center Experience
Published in Journal of Investigative Surgery, 2021
Mario Lima, Neil Di Salvo, Chiara Cordola, Simone D’Antonio, Michele Libri, Michela Maffi, Tommaso Gargano, Giovanni Ruggeri, Vincenzo Davide Catania
Operative and clinical outcome data are reported in Table 2. Among the type of jejuno-ileal malformation there was no difference between the two groups. Three cases (13%) required conversion from LAS to OS, reasons were: in two cases the coexistence of meconium ileus complicated by intestinal perforation with subsequent meconium pseudocyst, and in 1 case by the presence of over-distended bowel loops with no abdominal working space.