Congenital diarrhea

Definition:

Congenital diarrheas are a group of rare chronic enteropathies characterized by a heterogeneous etiology. In the first weeks of life, patients usually present with severe diarrhea that within a few hours leads to a life-threatening condition secondary to massive dehydration and metabolic acidosis.

References:

[1]. Abdul Elkadri, et al. Mutations in Plasmalemma Vesicle Associated Protein Result in Sieving Protein-Losing Enteropathy Characterized by Hypoproteinemia, Hypoalbuminemia, and Hypertriglyceridemia. Cell Mol Gastroenterol Hepatol. 2015 Jul;1(4):381-394.e7. [Content Brief]

[2]. Amy E O'Connell, et al. Neonatal-Onset Chronic Diarrhea Caused by Homozygous Nonsense WNT2B Mutations. Am J Hum Genet. 2018 Jul 5;103(1):131-137. [Content Brief]

[3]. Andreas R Janecke, et al. Reduced sodium/proton exchanger NHE3 activity causes congenital sodium diarrhea. Hum Mol Genet. 2015 Dec 1;24(23):6614-23. [Content Brief]

[4]. Chih-Ping Chen, et al. Microvillus inclusion disease: prenatal ultrasound findings, molecular diagnosis and genetic counseling of congenital diarrhea. Taiwan J Obstet Gynecol. 2010 Dec;49(4):487-94. [Content Brief]

[5]. Danit Oz-Levi, et al. Noncoding deletions reveal a gene that is critical for intestinal function. Nature. 2019 Jul;571(7763):107-111. [Content Brief]

[6]. Joel T Haas, et al. DGAT1 mutation is linked to a congenital diarrheal disorder. J Clin Invest. 2012 Dec;122(12):4680-4. [Content Brief]

[7]. Roberto Berni Canani, 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 Apr;50(4):360-6. [Content Brief]

[8]. Torunn Fiskerstrand, et al. Familial diarrhea syndrome caused by an activating GUCY2C mutation. N Engl J Med. 2012 Apr 26;366(17):1586-95. [Content Brief]

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