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Difference between revisions of "Pediatric gastrointestinal pathology"
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Pediatric gastrointestinal pathology (view source)
Revision as of 04:31, 28 December 2011
, 04:31, 28 December 2011→Microvillous inclusion disease: std format
m (→Necrotizing enterocolitis: +enteritis) |
(→Microvillous inclusion disease: std format) |
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==Microvillous inclusion disease== | ==Microvillous inclusion disease== | ||
*[[AKA]] ''Davidson disease''. | |||
===General=== | ===General=== | ||
*Autosomal recessive inherited condition - due to mutation in ''MYO5B''.<ref name=pmid18724368>{{cite journal |author=Müller T, Hess MW, Schiefermeier N, ''et al.'' |title=MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity |journal=Nat. Genet. |volume=40 |issue=10 |pages=1163–5 |year=2008 |month=October |pmid=18724368 |doi=10.1038/ng.225 |url=}}</ref> | *Autosomal recessive inherited condition - due to mutation in ''MYO5B''.<ref name=pmid18724368>{{cite journal |author=Müller T, Hess MW, Schiefermeier N, ''et al.'' |title=MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity |journal=Nat. Genet. |volume=40 |issue=10 |pages=1163–5 |year=2008 |month=October |pmid=18724368 |doi=10.1038/ng.225 |url=}}</ref> | ||
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*Flat mucosa; no villi. | *Flat mucosa; no villi. | ||
IHC | Notes: | ||
*Appearance similar to [[celiac sprue]]; however, usually lacks the intraepithelial lymphocytic infiltration characteristic of celiac sprue. | |||
===IHC=== | |||
*Carcinoembryonic antigen (CEA) +ve.<ref name=Ref_Sternberg4>{{Ref Sternberg4|}}</ref> | *Carcinoembryonic antigen (CEA) +ve.<ref name=Ref_Sternberg4>{{Ref Sternberg4|}}</ref> | ||
EM | ===EM=== | ||
*Diagnosis is dependent on electron microscopy.<ref>{{cite journal |author=Kennea N, Norbury R, Anderson G, Tekay A |title=Congenital microvillous inclusion disease presenting as antenatal bowel obstruction |journal=Ultrasound Obstet Gynecol |volume=17 |issue=2 |pages=172–4 |year=2001 |pmid=11251929 |doi=10.1046/j.1469-0705.2001.00211.x}}</ref> | *Diagnosis is dependent on [[electron microscopy]].<ref>{{cite journal |author=Kennea N, Norbury R, Anderson G, Tekay A |title=Congenital microvillous inclusion disease presenting as antenatal bowel obstruction |journal=Ultrasound Obstet Gynecol |volume=17 |issue=2 |pages=172–4 |year=2001 |pmid=11251929 |doi=10.1046/j.1469-0705.2001.00211.x}}</ref> | ||
*Images: [http://www.gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?cat3=1398 MID (gfmer.ch)]. | *Images: [http://www.gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?cat3=1398 MID (gfmer.ch)]. | ||
==Cystic fibrosis== | ==Cystic fibrosis== | ||