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Congenital Short Bowel Disease

Congenital Short Bowel Disease patients usually present early in life with bile stained vomiting and diarrhoea or failure to thrive. A shortened bowel and malrotation are often detected by ultrasound and confirmed by laparotomy. Other reported anomalies are:  absent appendix;  volvulus; shortened colon; hypertrophic pyloric stenosis and a patent ductus arteriosis. The normal length of the short intestine of new-borns is approximately 250 cm whereas patients with congenital short bowel syndrome have an small intestine of approximately 50 cm.
CSBS patients need total parenteral nutrition (TPN) to survive. Unfortunately, most patients die of the complications of TPN which includes sepsis and liver failure.

Hofstra1

Genetics of Congenital short bowel disease
Familial occurrence of CSBS, in which siblings of both sexes were affected, is described in around 60% of  cases and consanguinity is seen in around 25% of these cases. Therefore, an autosomal recessive pattern was suggested. We identified CLMP as the affected gene in autosomal recessive CSBS (van de Werf et al., 2012).
In a few cases the condition was more likely X-linked. We identified a 2 bp deletion in second exon of FLNA as the cause of  this X-linked CSBS (van de Werf et al., 2013).

Hofstra2

CLMPa ortholog is expressed in the intestine of zebrafish embryos and knock-down of this ortholog results in a shortened and maldeveloped intestine (I is WT zebrafish, II is the knock-down CLMP zebrafish).  Figure V show a part of the gastrointestinal tract of the WT zebrafish, VI that of the knock-down CLMP zebrafish. Arrowheads indicate goblet cells. Intestinal muscle layer (m) and intestinal epithelia (e) are indicated. The goblet cells are absent in the knock-down CLMP zebrafish indication that the midgut/intestine (that contains the goblet in fish) is absent in these fish.