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The gastrointestinal tract
Published in Angus Clarke, Alex Murray, Julian Sampson, 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).
Electrolyte and Acid-Base Disturbances
Published in John K. DiBaise, Carol Rees Parrish, Jon S. Thompson, Short Bowel Syndrome Practical Approach to Management, 2017
Lingtak-Neander Chan, Berkeley N. Limketkai
For instance, persistent vomiting or nasogastric drainage may lead to metabolic alkalosis through the loss of gastric Cl−. This event is accompanied by urinary losses of cations (H+, Na+, and K+) that further promote metabolic alkalosis. Severe diarrhea may lead to metabolic alkalosis or acidosis, depending on the volume and mechanism of fluid and electrolyte loss. Stool volumes <3 L/day may not necessarily result in acid-base disturbances, as the kidneys can adequately compensate for shifts in stool HCO3- output. Inflammatory colitis rarely causes diarrhea above 3 L/day and typically leads to no significant change in serum pH [10]. In congenital chloride diarrhea, there is high stool Cl− loss and minimal HCO3- loss, leading to metabolic alkalosis. Laxative use is also associated with metabolic alkalosis by causing stool K+ loss, hypokalemia, and intracellular shifts of H+ [11]. More commonly, large-volume ostomy output or diarrhea leads to metabolic acidosis through disproportionate HCO3- loss. Stool HCO3- levels are typically immeasurable in normal stool but can rise to 30 mEq/L in patients with recently constructed ileostomies and upward to 75 mEq/L in those with secretory diarrhea (Table 6.1). In cholera, for instance, constitutive activation of the CFTR channel leads to increased luminal Cl−, Cl−, and HCO3- exchange and subsequent HCO3- secretion into stool.
Approach to Pediatric Diarrhea
Published in John F. Pohl, Christopher Jolley, Daniel Gelfond, Pediatric Gastroenterology, 2014
Karolina Maria Burghardt, Tanja Gonska
Inherited defects within the intestinal epithelium include diseases such as congenital chloride diarrhea, which is caused by a defective chloride and bicarbonate exchanger (mutation of SLC26A3). The consequence is diarrhea, severe chloride loss in the stool, metabolic alkalosis, and acidification of stool. A similar presentation is noted in congenital sodium diarrhea, but with a characteristic high sodium concentration in the fecal effluent instead.
Upregulation of antimicrobial peptide expression in slc26a3-/- mice with colonic dysbiosis and barrier defect
Published in Gut Microbes, 2022
Archana Kini, Bei Zhao, Marijana Basic, Urmi Roy, Aida Iljazovic, Ivan Odak, Zhenghao Ye, Brigitte Riederer, Gabriella Di Stefano, Dorothee Römermann, Christian Koenecke, André Bleich, Till Strowig, Ursula Seidler
The human autosomal recessive disease congenital chloride diarrhea (CLD) was originally thought to be excessively rare and restricted to a few geographic locations with high levels of consanguinity.23 Recently, cases are being described more frequently from all continents. This is likely due to prenatal tentative diagnosis by abdominal ultrasound, and confirmation by sequencing techniques after birth that have become widely available in many areas of the world. While the disease need not be lethal any more, the substitution of electrolytes and fluid, which is the current mainstay of therapy, permits survival but does not attenuate the diarrhea. Moreover, many centers report a high percentage of grave complications, such as inflammatory bowel disease2,24 or chronic renal failure,25 both likely direct sequelae of the intestinal manifestations of CLD. It is therefore important to find causes that may aggravate the diarrheal, and/or the inflammatory intestinal phenotype in CLD patients, and to design treatment and preventive strategies.