The gastrointestinal tract
Angus Clarke, Alex Murray, Julian Sampson in Harper's Practical Genetic Counselling, 2019
Gastrointestinal enzyme defects all follow autosomal recessive inheritance and include the following: Disaccharidase deficiencies (maltase, sucrase, lactase): Partial lactase deficiency after infancy is normal in most Asian and African populations. Indeed, lactose tolerance can be seen as a recent evolutionary adaptation to dairy herding (an alternative strategy to the culture of yoghurt).Pancreatic enzyme deficiencies (trypsinogen, enterokinase, lipase).Acrodermatitis enteropathica (due to a defect in zinc metabolism with variants in the gene SLC39A4). The disease is rare in Northern Europe, more common around the Mediterranean.Congenital chloride diarrhoea (due to mutations in an ion-transport gene related and adjacent to that for cystic fibrosis on chromosome 7).
Respiratory system
Jagdish M. Gupta, John Beveridge in MCQs in Paediatrics, 2020
7.24. Which of the following statements is/are true of fibrocystic disease of the pancreas?Intestinal disaccharidase levels are low.Prognosis is unchanged even with optimal management.There is an incidence of 1 in 4 of this condition in the offspring of unaffected siblings.There is an increased incidence of neonatal bowel obstruction.Neonatal screening for immunoreactive trypsin will establish early diagnosis in more than 98% of cases.
Significance of IgA-Class Endomysial Antibodies in the Diagnosis of Celiac Disease
Tadeusz P. Chorzelski, Ernst H. Beutner, Vijay Kumar, Tadeusz K. Zalewski in Serologic Diagnosis of Celiac Disease, 2020
Case #5. Two children, ages 4 and 13, presented with chronic diarrhea, one of whom also suffered from growth failure. Both children exhibited IgA-EmA, and both exhibited intestinal mucosal histology which was not interpreted to be consistent with celiac disease. Disaccharidase determinations in the duodenal mucosa of both patients indicated a severe deficiency. The severe disaccharidase deficiency may, in this instance, be interpreted to indicate severe villous atrophy and is consistent with the presence of a patchy enteropathy. The child with growth retardation subsequently was noted to develop histopathological features of celiac disease, retention of the disaccharidase deficiency, and also a rise in antibody titer following gluten challenge. These findings indicate celiac disease.
Efficacy and safety of plecanatide in treating constipation predominant irritable bowel syndrome
Published in Expert Opinion on Pharmacotherapy, 2018
The pathophysiology of IBS is multifactorial, partly because multiple abnormalities of GI function produce a limited number of overlapping symptoms. Treatment often addresses a single symptom, bowel movement frequency, rather than dealing with the elusive pathophysiology of IBS-C in an individual patient. Regarding the single symptom treatment approach to treat IBS-C, therapeutic failure exceeds therapeutic success. Recent US FDA guidance for development of drugs for IBS-C reinforces the recognition of multiple symptoms in patients with IBS-C as the expectation for registration now requires that two symptoms improve – constipation defined by the number of complete spontaneous bowel movements (CSBMs) and abdominal pain. Occasionally in a subset of IBS patients, a specific pathophysiologic mechanism becomes clear and the diagnosis of IBS is replaced with the newly found ‘disease’. For example, once the importance of disaccharidase deficiency was understood, the IBS symptoms associated with lactose intolerance allowed the diagnosis of IBS in these patients to be abandoned in favor of a pathophysiologically based explanation for symptoms associated with lactase deficiency. Until the pathophysiology of IBS is completely understood, treatment will continue to be symptom based. In the complex IBS arena, plecanatide has been shown to offer important symptomatic relief in many patients with IBS-C.
Sucrose intolerance in adults with common functional gastrointestinal symptoms
Published in Baylor University Medical Center Proceedings, 2022
Christine L. Frissora, Satish S. C. Rao
CSID, or primary sucrose malabsorption, is a rare genetic disorder associated with one or more mutations in the SI gene.13 Secondary or acquired sucrose intolerance is more common and occurs as a result of mucosal damage and brush border injury from organic causes. The gold standard for diagnosing sucrase deficiency is disaccharidase testing of duodenal biopsies obtained during an upper endoscopy.14 One recent study reported a 9.3% incidence of sucrase deficiency among 27,875 pediatric GI patients.15 In a smaller pilot study, the incidence of sucrase deficiency was 14.3% in 28 pediatric GI patients.16 A recent retrospective study of duodenal biopsies with normal histology from adults with unexplained GI symptoms found that 9.2% (11/120) had pan-disaccharidase deficiency, including sucrase deficiency.17
Growth of Intestinal Neomucosa on Pedicled Gastric Wall Flap, a Novel Technique in an Animal Model
Published in Journal of Investigative Surgery, 2022
Panagiotis Sakarellos, Apostolos Papalois, Harikleia Gakiopoulou, Iro Zacharioudaki, Michalis Katsimpoulas, Marina Belia, Dimitrios Moris, Kyveli Aggelou, Ilias Vagios, Spiridon Davakis, Michail Vailas, Theodoros Liakakos, Theodoros Diamantis, Evangelos Felekouras, Michael Kontos
In rat models the extremely weak and thin intestine precludes the use of its serosal surface for growing neomucosa, so the peritoneal serosal surface was utilized instead [40, 41]. In addition, by folding the colon appropriately in a way that a seromuscular tunnel was formed and with the two ends sutured to the transected ileum, a one-layer cylindric epithelium was obtained. The one-layer cylindric epithelium obtained showed evidence of disaccharidase activity [40].
Related Knowledge Centers
- Disaccharide
- Enzyme
- Lactose Intolerance
- Monosaccharide
- Sucrose Intolerance
- Small Intestine
- Glycoside Hydrolase
- Sugar
- Body
- Brush Border