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Gastroenterology
Published in Stephan Strobel, Lewis Spitz, Stephen D. Marks, Great Ormond Street Handbook of Paediatrics, 2019
Patients can be divided into three groups, with: Specific diagnosis, but no known therapy (microvillus inclusion disease, phenotypic diarrhoea, and ‘tufting’ enteropathy) (Fig. 9.7).Specific diagnosis, but partial resistance to therapy (some cases of autoimmune enteropathy and immunodeficiency, e.g. immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome.No specific diagnosis.
Approach to Pediatric Diarrhea
Published in John F. Pohl, Christopher Jolley, Daniel Gelfond, Pediatric Gastroenterology, 2014
Karolina Maria Burghardt, Tanja Gonska
Neonatal enteropathies present early with severe onset of diarrhea and a rapid loss of electrolytes in the stool. Some of these enteropathies are caused by structural enterocyte defects, while for others the molecular pathogenesis is still to be refined. An early clue to this pathology is often found in the maternal history of polyhydramnios during the pregnancy. Two examples of this pathology are tufting enteropathy and microvillous inclusion disease. In microvillous inclusion disease, the net reduction of absorptive surface area is due to a disorganization and loss of microvilli within the brush border (56.3). In tufting enteropathy, the epithelial layer is disorganized with focal aggregation of villi into ‘tufts’. In addition there is an abnormal distribution of laminin and integrins that leads to disturbances in the cell–matrix interactions (56.4).
Persistent diarrhoea: current knowledge and novel concepts
Published in Paediatrics and International Child Health, 2019
Robert H. J. Bandsma, Kamran Sadiq, Zulfiqar A. Bhutta
As in high-income settings, PD can be related to underlying immunological causes such as cow milk protein allergy [48]. Monogenic diseases, e.g. prohormone convertase 1/3 deficiency or microvillus inclusion disease, can also lead to persistent and ultimately chronic diarrhoea, often commencing in the neonatal period or early infancy. Monogenic causes of diarrhoea are mostly autosomal recessive, and in countries in which co-sanguinity is more prevalent, children are disproportionally affected. Congenital causes of persistent and chronic diarrhoea related to mutations in genes directly responsible for aspects of intestinal function such as microvillous inclusion disease will probably also be responsible for rare cases of diarrhoea in neonates and infants in low-resource countries but will often go undiagnosed. Congenital causes of enteropathy have been reviewed previously [49]. Very early-onset IBD is a rare group of diseases which are mostly linked to mutations in genes involved in the regulation of immunological function [50]. Symptoms and histological features may overlap with infectious causes of PD and the diagnosis can be challenging.
Oral absorption of oxycodone in patients with short bowel syndrome
Published in Scandinavian Journal of Gastroenterology, 2021
Louise Ladebo, Lars Vinter-Jensen, Johanne Hestvang, Maja Schjønning Mikkelsen, Henrik Højgaard Rasmussen, Lona Louring Christrup, Asbjørn Mohr Drewes, Anne Estrup Olesen
Short bowel syndrome is a malabsorptive disorder typically resulting from extensive surgical resection as a consequence of Crohn’s disease, mesenteric vascular disease, postsurgical complications, and/or malignancies [1,2]. It may also be a result of a genetic disorder such as microvillus inclusion disease [3]. Diarrhea, fatty stools, malnutrition, dehydration and oral drug therapy failure are common among patients with short bowel syndrome. This is partly due to insufficient adaptation with abnormal motility, hormone or epithelial adaptation that can also limit the intestinal absorptive capacity under certain circumstances [4–7]. Additionally, the syndrome is associated with significant morbidity and mortality, high health care costs and reduced quality of life [8].
Compound Heterozygous Myosin 5B (Myo5b) Mutation with Early Onset Progressive Cholestasis and No Intestinal Failure
Published in Fetal and Pediatric Pathology, 2022
MYO5B gene encodes for the myosin Vb motor protein and plays important role in plasma membrane recycling, transcytosis, and epithelial cell polarization in multiple tissues, including intestinal and respiratory epithelial cells, as well as hepatocytes [7–10]. This is done through protein-protein interactions with RAS-related GTP-binding protein 11 A (RAB11A), RAB8A, and cystic fibrosis transmembrane conductance regulator, respectively [11,12]. MYO5B/RAB11A interaction also appears to be essential for targeting bile salt export pump (BSEP) to the canalicular membrane of the hepatocytes. Functional deficiency in MYO5B, or absolute deficiency of MYO5B is seen in patients with microvillous inclusion disease (MVID) [11]. Loss of expression or function of the myosin Vb protein causes the formation of pathognomonic inclusions and retention of brush border enzymes that lead to intractable diarrhea and failure to thrive [12]. A subset of these patients with MYO5B defects developed cholestasis as well [13,14]. Recently, MYO5B homozygous or compound heterozygous mutations have been reported in few children diagnosed with cholestasis, in the absence of intestinal disease [15–17]. It has been suggested that type of MYO5B gene defects may affect the patient phenotype [2]. In patients with only cholestatic liver disease MYO5B mutations may not result in sufficient dysfunction of the myosin Vb protein to cause intestinal disease [18]. Patients with compound heterozygous mutations with isolated cholestasis often carry in one allele a mutation that corresponds to more peripheral residues of the motor domain that are predicted to be less damaging for the protein’s motor function [18]. Isolated cholestasis cholestasis in patients without intestinal failure appears to be a manifestation of relatively mild MYO5B mutations. In more damaging mutations, the hepatocyte defects maybe greater, but there will also be intestinal failure [2].