Spontaneous Perforation of the Small Intestine, a Novel Manifestation of Classical Homocystinuria in an Adult with New Cystathionine b-synthetase Gene MutationsReportar como inadecuado




Spontaneous Perforation of the Small Intestine, a Novel Manifestation of Classical Homocystinuria in an Adult with New Cystathionine b-synthetase Gene Mutations - Descarga este documento en PDF. Documentación en PDF para descargar gratis. Disponible también para leer online.

Collegium antropologicum, Vol.35 No.1 March 2011. -

The clinical picture of classical homocystinuria is diverse. This is the first report of an adult homocystinuric patient

with non-traumatic spontaneous small bowel perforation. A 47-year old man presented with abdominal rebound tenderness,

hypotension and tachycardia, anemia, and elevated markers of inflammation. Other routine laboratory tests were

normal. Abdominal x-ray showed no free air. An emergency laparotomy revealed jejunal perforation in the left upper quadrant.

Histologic specimen showed full-thickness nonspecific inflammation of the intestinal wall with granulocytic infiltration,

hemorrhage and necrosis. Tuberculosis, actinomycosis and typhus were histologically and clinically excluded. After

excluding all known possible causes of perforation, we presumed a causative relationship between homocystinuria and

small bowel perforation. It could be hypothesized that connective tissue weakness in homocystinuria is a result of homocysteine

interference with recombinant human fibrillin-1 fragments or cross-linking of collagen through permanent degradation

of disulfide bridges and lysine amino acid residues in proteins. DNA analysis showed three detectable mutations in the

cystathionine beta-synthetase gene, 1278T:c.833T>C, and two new mutations, V372G:c.1133T>G, and D520G:c.1558A>G

in the alternatively spliced exon 15.

cystathionine beta-synthetase deficiency; spontaneous small bowel perforation



Autor: Diana Muačević-Katanec - Tihomir Kekez - Ksenija Fumić - Ivo Barić - Marijan Merkler - Jasminka Jakić-Razumović - Zeljko Kr

Fuente: http://hrcak.srce.hr/



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