Syndromic congenital diarrhea because of the SPINT2 mutation showing enterocyte tufting and unique electron microscopy findings

Clinical Dysmorphology

Volumn 22, Issue 3, 2013, Pages 118-120

  Slae, Mordechai A ^a   Saginur, Michael ^a   Persad, Rabin ^a   Yap, Jason ^a   Lacson, Atilano ^b   Salomon, Julie ^c   Canioni, Danielle ^d   Huynh, Hien Q ^a  

^a Division of Pediatric Gastroenterology and Nutrition   (Canada)

^b UNIVERSITY OF ALBERTA   (Canada)

^c Department of Genetics ^*  (United States)

^d HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

SERINE PROTEASE INHIBITOR KUNITZ TYPE 2; SERINE PROTEINASE INHIBITOR; SODIUM; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CAUSE OF DEATH; CHOANA ATRESIA; CONGENITAL DISORDER; CONGENITAL TUFTING ENTEROPATHY; CONSANGUINITY; DIARRHEA; DUODENUM BIOPSY; ELECTRON MICROSCOPY; ENTEROPATHY; EYE EXAMINATION; GENE MUTATION; HISTOPATHOLOGY; HOMOZYGOTE; HUMAN; HUMAN TISSUE; HYPONATREMIA; INFANT; INTESTINE CELL; LIVER DISEASE; MALE; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; PUNCTATE KERATITIS; RESPIRATORY DISTRESS; TOTAL PARENTERAL NUTRITION; VERNER MORRISON SYNDROME;

ANTIGENS, NEOPLASM; CELL ADHESION MOLECULES; DIARRHEA; ENTEROCYTES; HUMANS; INFANT; MALE; MEMBRANE GLYCOPROTEINS; MICROSCOPY, ELECTRON;

EID: 84879938763     PISSN: 09628827     EISSN: 14735717     Source Type: Journal    
DOI: 10.1097/MCD.0b013e328361d42f     Document Type: Article

References (6)

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2. Patey N, Scoazec JY, Cuenod-Jabri B, Canioni D, Kedinger M, Goulet O, Brousse N (1997). Distribution of cell adhesion molecules in infants with intestinal epithelial dysplasia (tufting enteropathy). Gastroenterology 113:833-843. (Pubitemid 27381143)
3. Sherman PM, Mitchell DJ, Cutz E (2004). Neonatal enteropathies: defining the causes of protracted diarrhea of infancy. J Pediatr Gastroenterol Nutr 38:16-26. (Pubitemid 39274462)
4. Sivagnanam M, Janecke AR, Muller T, Heinz-Erian P, Taylor S, Bird LM (2010a). Case of syndromic tufting enteropathy harbors SPINT2 mutation seen in congenital sodium diarrhea. Clin Dysmorphol 19:48.
5. Sivagnanam M, Mueller JL, Lee H, Chen Z, Nelson SF, Turner D, et al. (2008). Identification of EPCAM as the gene for congenital tufting enteropathy. Gastroenterology 135:429-437.
6. Sivagnanam M, Schaible T, Szigeti R, Byrd RH, Finegold MJ, Ranganathan S, et al. (2010b). Further evidence for EPCAM as the gene for congenital tufting enteropathy. Am J Med Genet Am 152A:222-224.