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Scientific paper - Original scientific paper
Spontaneous perforation of the small intestine, a novel manifestation of classical homocystinuria in an adult with new cystathionine beta-synthetase gene mutations
Collegium Antropologicum, 35 (2011), 1; 181-185. urn:nbn:hr:105:563470
Muačević-Katanec, Diana; Kekez, Tihomir; Fumić, Ksenija; Barić, Ivo; Merkler, Marijan; Jakić-Razumović, Jasminka; Krznarić, Željko; Zadro, Renata; Katanec, Davor; Reiner, Željko

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Muačević Katanec, D., Kekez, T., Fumić, K., Barić, I., Merkler, M., Jakić Razumović, J. ... Reiner, Ž. (2011). Spontaneous perforation of the small intestine, a novel manifestation of classical homocystinuria in an adult with new cystathionine beta-synthetase gene mutations . Collegium Antropologicum, 35. (1), 181-185. Retrieved from https://urn.nsk.hr/urn:nbn:hr:105:563470

Muačević Katanec, Diana, et al. "Spontaneous perforation of the small intestine, a novel manifestation of classical homocystinuria in an adult with new cystathionine beta-synthetase gene mutations ." Collegium Antropologicum, vol. 35, no. 1, 2011, pp. 181-185. https://urn.nsk.hr/urn:nbn:hr:105:563470

Muačević Katanec, Diana, Tihomir Kekez, Ksenija Fumić, Ivo Barić, Marijan Merkler, Jasminka Jakić Razumović, Željko Krznarić, Renata Zadro, Davor Katanec and Željko Reiner. "Spontaneous perforation of the small intestine, a novel manifestation of classical homocystinuria in an adult with new cystathionine beta-synthetase gene mutations ." Collegium Antropologicum 35, no. 1 (2011): 181-185. https://urn.nsk.hr/urn:nbn:hr:105:563470

Muačević Katanec, D., et al. (2011) 'Spontaneous perforation of the small intestine, a novel manifestation of classical homocystinuria in an adult with new cystathionine beta-synthetase gene mutations ', Collegium Antropologicum, 35(1), pp. 181-185. Available at: https://urn.nsk.hr/urn:nbn:hr:105:563470 (Accessed 06 May 2024)

Muačević Katanec D, Kekez T, Fumić K, Barić I, Merkler M, Jakić Razumović J, and sur.. Spontaneous perforation of the small intestine, a novel manifestation of classical homocystinuria in an adult with new cystathionine beta-synthetase gene mutations . Collegium Antropologicum [Internet]. 2011 March [cited 2024 May 06];35(1):181-185. Available at: https://urn.nsk.hr/urn:nbn:hr:105:563470

D. Muačević Katanec, et al., "Spontaneous perforation of the small intestine, a novel manifestation of classical homocystinuria in an adult with new cystathionine beta-synthetase gene mutations ", Collegium Antropologicum, vol. 35, no. 1, pp. 181-185, March 2011. [Online]. Available at: https://urn.nsk.hr/urn:nbn:hr:105:563470. [Accessed: 06 May 2024]

Metadata
Title (english)Spontaneous perforation of the small intestine, a novel manifestation of classical homocystinuria in an adult with new cystathionine beta-synthetase gene mutations
Title (croatian)Spontana perforacija tankog crijeva kod odraslog bolesnika s klasičnom homocistinurijom i novim mutacijama gena za cistationin-beta-sintazu
AuthorDiana Muačević-Katanec
AuthorTihomir Kekez
AuthorKsenija Fumić
AuthorIvo Barić
AuthorMarijan Merkler
AuthorJasminka Jakić-Razumović
AuthorŽeljko Krznarić
AuthorRenata Zadro
AuthorDavor Katanec
AuthorŽeljko Reiner
Author's institutionUniversity of Zagreb
School of Medicine
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Abstract (english)
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 aternatively spliced exon 15.
Abstract (croatian)
Klasična homocistinurija je bolest u kojoj nalazimo povišene vrijednosti homocisteina u plazmi i urinu, a najčešće nastaje kao posljedica nedostatka cistationin-beta-sintaze. Prema podacima dostupnim u literaturi ovo je prvi opisani slučaj odraslog bolesnika s dubokom venskom trombozom i spontanom netraumatskom perforacijom tankog crijeva. Bolesnik se javio u hitnu kiruršku ambulantu zbog jakih, grčevitih i muklih bolova u trbuhu, sa znakovima peritonealnog nadražaja, koji su počeli dan ranije. Bolesnik je bio lošeg općeg stanja, hipotenzivan i tahikardan. U laboratorijskim nalazima dominirali su anemija i povišene vrijednosti upalnih markera. Nakon radiološke i laboratorijske obrade pristupilo se hitnoj laparotomiji, te je nađena perforacija tankog crijeva u gornjem lijevom hemiabdomenu. Patohistološki se radilo o nespecifičnom akutnom jejunitisu s granulocitnom infiltracijom, hemoragijom i nekrozom. Tuberkuloza, aktinomikoza i tifus su klinički i histološki isključeni. Kako su anamnestički, klinički i patohistološki isključeni mogući poznati uzroci perforacije, zaključili smo da se radi o netraumatskoj, spontanoj perforaciji tankog crijeva. Jedno od osnovnih obilježja homocistinurije je slabost vezivnog tkiva, koja se može protumačiti djelovanjem homocisteina na pojedine fragmente rekombinatnog humanog fibrilina-1 i kolagena putem degradacije disulfidnih veza i esencijalne aminokiseline lizina, nužnog gradivnog elementa svih proteina ljudskog tijela. Spoznaja o mogućoj spontanoj perforaciji tankog crijeva u bolesnika s homocistinurijom važna je kao doprinos kliničkom znanju o mogućim kroničnim komplikacijama koje se mogu očekivati u osoba s ovakvim metaboličkim premećajem i kao činjenica da kod bolesnika sa spontanom perforacijom tankog crijeva treba u sklopu rutinske obrade odrediti i razinu homocisteina u plazmi. DNA analiza je kod ovog bolesnika pokazala ukupno tri mutacije na genu za cistationin-beta-sintazu, poznatu mutaciju 1278T:c.833T>C, te dvije do sada nepoznate mutacije, V372G:c.1133T>G i D520G:c.1558A>G na eksonu 15. Kliničko značenje ovih mutacija još nije poznato.
Keywords (english)
Languageenglish
Publication typeScientific paper - Original scientific paper
Publication statusPublished
Peer reviewPeer review
Publication versionPublished version
Journal titleCollegium Antropologicum
Numberingvol. 35, no. 1, pp. 181-185
p-ISSN0350-6134
URN:NBNurn:nbn:hr:105:563470
Publication2011-03
Document URLhttps://hrcak.srce.hr/64781
Type of resourceText
Access conditionsOpen access
Terms of useLicence In copyright icon
Created on2024-03-27 19:05:19