Skip to main content
Key Specialties
Cardiology Diabetology Endocrinology Gastroenterology Geriatrics and Gerontology Gynecology and Obstetrics Hematology Infectious Disease Internal Medicine Nephrology Neurology Oncology Pediatrics Respiratory Medicine Rheumatology Surgery
Congress Coverage
2024 ASCO Annual Meeting 2024 ACC Congress 2023 ESMO Congress 2023 EASD Congress 2023 ERS Congress 2023 ESC Congress
Clinical Collections
Advances in Alzheimer’s

2024 ASCO Annual Meeting

Keep up to date with all the top stories and latest evidence with our hub page, including official congress videos and expert takeaways.
ADVANCED SEARCH
Log in
Top
Current Gastroenterology Reports
Published in: Current Gastroenterology Reports 3/2011

01-06-2011

Recent Progress in Congenital Diarrheal Disorders

Authors: Roberto Berni Canani, Gianluca Terrin

Published in: Current Gastroenterology Reports | Issue 3/2011

Login to get access

Abstract

Congenital diarrheal disorders (CDD) are a group of rare enteropathies related to specific genetic defects. Infants with these disorders have chronic diarrhea, frequently requiring parenteral nutrition support. Etiologies and prognoses are variable. We propose a new classification of CDD into four groups, taking into account the specific etiology and genetic defect: 1) defects in digestion, absorption, and transport of nutrients and electrolytes; 2) disorders of enterocyte differentiation and polarization; 3) defects of enteroendocrine cell differentiation; and 4) dysregulation of the intestinal immune response. The present review focuses on the recent advances made in understanding the pathophysiology of CDD that could potentially improve the clinical approach to these conditions.
Literature
1.
Berni Canani R, Cirillo P, Terrin G. Chronic and intractable diarrhea. In: Guandalini S Ed. Essential Pediatric Gastroenterology Hepatology, and Nutrition. McGraw-Hill Mediacla Publishing Division Chicago 2005; 25–47.
2.
•• Ruemmele FM. Chronic enteropathy: molecular basis. In Gastrointestinal Disorders. Nestlè Nutr Workshop Ser Pediatr Program. 2007; 59:73–88. This article provides an excellent review of molecular mechanisms of chronic enteropathy.
3.
•• Berni Canani R, Terrin G, Cardillo G, et al. Congenital diarrheal disorders: improved understanding of gene defects is leading to advances in intestinal physiology and clinical management. J Pediatr Gastroenterol Nutr. 2010; 50:360–6. This article is an interesting review based on a new classification of congenital diarrhea.
4.
Sherman PM, Mitchell DJ, Cutz E. Neonatal enteropathies: defining the causes of protracted diarrhea of infancy. J Pediatr Gastroenterol Nutr. 2004;38:16–26.PubMedCrossRef
5.
Guarino A, Spagnuolo MI, Russo S, et al. Etiology and risk factors of severe and protracted diarrea. J Pediatr Gastroenterol Nutr. 1995;20:173–8.PubMedCrossRef
6.
Passariello A, Terrin G, Baldassarre ME, et al. Diarrhea in neonatal intensive care unit. World J Gastroenterol. 2010;16:2664–8.PubMedCrossRef
7.
Heyman MB. Lactose intolerance in infants, children, and adolescents. Committee on Nutrition. Pediatrics. 2006;118:1279–86.PubMedCrossRef
8.
Järvelä I, Torniainen S, Kolho KL. Molecular genetics of human lactase deficiencies. Ann Med. 2009;41:568–75.PubMedCrossRef
9.
Torniainen S, Freddara R, Routi T, et al. Four novel mutations in the lactase gene (LCT) underlying congenital lactase deficiency (CLD). BMC Gastroenterol. 2009;9:8.PubMedCrossRef
10.
Robayo-Torres CC, Quezada-Calvillo R, Nichols BL. Disaccharide digestion: clinical and molecular aspects. Clin Gastroenterol Hepatol. 2006;4:276–87.PubMedCrossRef
11.
Nichols BL, Quezada-Calvillo R, Robayo-Torres CC, et al. Mucosal maltase-glucoamylase plays a crucial role in starch digestion and prandial glucose homeostasis of mice. J Nutr. 2009;139:684–90.PubMedCrossRef
12.
•• Venkatasubramanian J, Ao M, Rao MC. Ion transport in the small intestine. Curr Opinion Gatroenterol. 2010; 26:123–8. Interesting review focusing on ions transport mechanisms.
13.
• Xin B, Wang H. Multiple sequence variations in SLC5A1 gene are associated with glucose-galactose malabsorption in a large cohort of Old Order Amish. Clin Genet. 2011;79(1):86–91. doi:10.​1111/​j.​1399-0004.​2010.​01440.​x. The authors of this interesting study report new clinical and molecular insights from a large population of affected subjects.
14.
Gibson PR, Newnham E, Barrett JS, et al. Review article: fructose malabsorption and the bigger picture. Aliment Pharmacol Ther. 2007;25:349–63.PubMedCrossRef
15.
Leturque A, Brot-Laroche E, Le Gall M. GLUT2 mutations, translocation, and receptor function in diet sugar managing. Am J Physiol Endocrinol Metab. 2009;296:E985–92.PubMedCrossRef
16.
•• Dorwart MR, Shcheynikov N, Baker JM, et al. Congenital chloride-losing diarrhea causing mutations in the STAS domain result in misfolding and mistrafficking of SLC26A3. J Biol Chem. 2008;283:8711–22. An important study that sheds light on the role of the STAS domain in the function of the SLC26A3 gene.
17.
Al Makadma AS, Al-Akash SI, Al Dalaan I, et al. Congenital sodium diarrhea in a neonate presenting as acute renal failure. Pediatr Nephrol. 2004;19:905–7.
18.
Leturque A, Brot-Laroche E, Le Gall M. GLUT2 mutations, translocation, and receptor function in diet sugar managing. Am J Physiol Endocrinol Metab. 2009;296:E985–92.PubMedCrossRef
19.
Schmitt S, Küry S, Giraud M, et al. An update on mutations of the SLC39A4 gene in acrodermatitis enteropathica. Hum Mutat. 2009;30:926–33.PubMedCrossRef
20.
Sperandeo MP, Andria G, Sebastio G. Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene. Hum Mutat. 2008;29:14–21.PubMedCrossRef
21.
Burroughs L, Woolfrey A, Shimamura A. Shwachman-Diamond syndrome: a review of the clinical presentation, molecular pathogenesis, diagnosis, and treatment. Hematol Oncol Clin North Am. 2009;23:233–48.PubMedCrossRef
22.
23.
Holzinger A, Maier EM, Bück C, et al. Mutations in the proenteropeptidase gene are the molecular cause of congenital enteropeptidase deficiency. Am J Hum Genet. 2002;70:20–5.PubMedCrossRef
24.
Zamel R, Khan R, Pollex RL, Hegele RA. Abetalipoproteinemia: two case reports and literature review. Orphanet J Rare Dis. 2008;3:19.PubMedCrossRef
25.
Marcil V, Peretti N, Delvin E, Levy E. Digestive and absorptive processes of lipids. Gastroenterol Clin Biol. 2004;28:1257–66.PubMedCrossRef
26.
Shneider BL. Intestinal bile acid transport: biology, physiology, and pathophysiology. J Pediatr Gastroenterol Nutr. 2001;32:407–17.PubMedCrossRef
27.
• Müller T, Hess MW, Schiefermeier N, et al. MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity. Nat Genet. 2008; 40:1163–5. This well-designed study suggests a defect in MYO5B as a cause of disease.
28.
Iancu TC, Mahajnah M, Manov I, Shaoul R. Microvillous inclusion disease: ultrastructural variability. Ultrastruct Pathol. 2007;31:173–88.PubMedCrossRef
29.
• Sivagnanam M, Mueller JL, Lee H, et al. Identification of EpCAM as the gene for congenital tufting enteropathy. Gastroenterology. 2008;135:429–37. This is the first article describing the gene responsible for the disease.
30.
Wang J, Cortina G, Wu SV, et al. Mutant neurogenin-3 in congenital malabsorptive diarrhea. N Engl J Med. 2006;355:270–80.PubMedCrossRef
31.
Bjerknes M, Cheng H. Neurogenin 3 and the enteroendocrine cell lineage in the adult mouse small intestinal epithelium. Dev Biol. 2006;300:722–35.PubMedCrossRef
32.
Blanco Quirós A, Arranz Sanz E, Bernardo Ordiz D, Garrote Adrados JA. From autoimmune enteropathy to the IPEX (immune dysfunction, polyendocrinopathy, enteropathy, X-linked) syndrome. Allergol Immunopathol. 2009;37:208–15.
33.
•• Sharma R, Ju ST. Genetic control of the inflammatory T-cell response in regulatory T-cell deficient scurfy mice. Clin Immunol 2010;136:162–9. The authors provide a well-written review on the role of regulatory T cells.
Metadata
Title
Recent Progress in Congenital Diarrheal Disorders
Authors
Roberto Berni Canani
Gianluca Terrin
Publication date
01-06-2011
Publisher
Current Science Inc.
Published in
Current Gastroenterology Reports / Issue 3/2011
Print ISSN: 1522-8037
Electronic ISSN: 1534-312X
DOI
https://doi.org/10.1007/s11894-011-0188-6

Other articles of this Issue 3/2011

Current Gastroenterology Reports 3/2011 Go to the issue

ReviewPaper

Evaluation of Patients with Suspected Laryngopharyngeal Reflux: A Practical Approach

ReviewPaper

Surgery for Portal Hypertension in Children

ReviewPaper

Diagnosis of Eosinophilic Esophagitis: Current Approach and Future Directions

ReviewPaper

GERD-Related Cough: Pathophysiology and Diagnostic Approach

ReviewPaper

Outcomes of Percutaneous Endoscopic Gastrostomy in Children

ReviewPaper

Intestinal Obstruction Syndromes in Cystic Fibrosis: Meconium Ileus, Distal Intestinal Obstruction Syndrome, and Constipation
Live Webinar | 27-06-2024 | 18:00 (CEST)

Keynote webinar | Spotlight on medication adherence

Reserve your place

Live: Thursday 27th June 2024, 18:00-19:30 (CEST)

WHO estimates that half of all patients worldwide are non-adherent to their prescribed medication. The consequences of poor adherence can be catastrophic, on both the individual and population level.

Join our expert panel to discover why you need to understand the drivers of non-adherence in your patients, and how you can optimize medication adherence in your clinics to drastically improve patient outcomes.

Prof. Kevin Dolgin
Prof. Florian Limbourg
Prof. Anoop Chauhan
Developed by: Springer Medicine
Obesity Clinical Trial Summary

At a glance: The STEP trials

Read more

A round-up of the STEP phase 3 clinical trials evaluating semaglutide for weight loss in people with overweight or obesity.

Developed by: Springer Medicine
Image Credits