Condition Affected gene(s) Reference Cystic fibrosis CFTR gene [1] Shwachman–Diamond syndrome SBDS gene [2] Johanson–Blizzard syndrome UBR1 gene [3] Pearson marrow–pancreas syndrome Mitochondrial DNA defects [4] Pancreatic agenesis PDX 1…
Immunodeficiency Main gastrointestinal manifestations Selective IgA deficiency Chronic diarrhea Celiac disease Nodular lymphoid hyperplasia Agammaglobulinemia, X-linked or AR Chronic diarrhea Malabsorption Hyper-IgM syndrome Chronic diarrhea Progressive liver disease Sclerosing cholangitis…
Fig. 6.1 Flow diagram for the management of preterm newborns with feeding intolerance. Note: *Erythematic abdominal wall, absence of bowel sounds, blood in the stools or in aspirates, bile in…
1. Absolute a. For the risk of infectious agent, consider using American Association of Blood Banks Donor history questionnaire: http://www.fda.gov/downloads/BiologicsBloodVaccines/BloodBloodProducts/ApprovedProducts/LicensedProductsBLAs/BloodDonorScreening/UCM213552.pdf Known human immunodeficiency virus (HIV), hepatitis B or C infections…
Transport defects and enzymatic deficiencies Disaccharidase deficiency Sodium–hydrogen exchanger (congenital sodium diarrhea) Chloride–bicarbonate exchanger (chloride- losing diarrhea) Sodium–glucose cotransporter (glucose–galactose malabsorption) Lysinuric protein intolerance Chylomicron retention disease Abetalipoproteinemia Ileal bile…
Total no. IBD pts Age group Indeterminate colitis Mean age at diagnosis (yrs) No. pts (%) IC v UC Castro et al. [14] 1576 Pediatric 131 8.3 8.9 9.6 Gupta…
Type Example(s) Metabolic Lactose intolerance, galactosemia, alcohol Pharmacologic Caffeine (jitteriness), tyramine in aged cheeses (migraine), alcohol, histamine Toxic Bacterial food poisoning, scombroid fish poisoning Undefined mechanisms Reactions to sulfites, tartrazine…
Fig. 4.1 Pyloric stenosis ultrasound transverse view Fig. 4.2 Pyloric stenosis ultrasound longitudinal view However, in a recent article published in the Permanente Journal, it was inferred that these parameters…
Intervention Effect estimates Water sanitation and hygiene 48, 17, and 36 % risk reductions for diarrhea with hand washing with soap, improved water quality and excreta disposal, respectively Breastfeeding education…
NASPGHAN 1. At least five attacks in any interval, or a minimum of three attacks during a 6-month period 2. Episodic attacks of intense nausea and vomiting lasting 1 h–10 days…
