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A leggyakrabban art\u00e9riareped\u00e9s vagy vastagb\u00e9l-perfor\u00e1ci\u00f3\n okozza az els\u0151 panaszt. Dolgozatunk c\u00e9lja a belszervi ruptur\u00e1k egy lehets\u00e9ges\n ritka ok\u00e1nak bemutat\u00e1sa egy t\u00f6bbsz\u00f6r m\u0171t\u00f6tt gyermek esete kapcs\u00e1n. \u00d6t\u00e9ves fi\u00fat\n vizsg\u00e1ltunk er\u0151s hasi f\u00e1jdalom miatt. Anamn\u00e9zis\u00e9ben kr\u00f3nikus obstipatio,\n minim\u00e1lis behat\u00e1sra megjelen\u0151 suffusi\u00f3k \u00e9s visszat\u00e9r\u0151 dysuri\u00e1s panaszok\n szerepeltek. Diff\u00faz nyom\u00e1s\u00e9rz\u00e9kenys\u00e9get, izomv\u00e9dekez\u00e9st \u00e9szlelt\u00fcnk. A klinikum\n \u00e9s a k\u00e9palkot\u00f3 vizsg\u00e1latok alapj\u00e1n b\u00e9lelz\u00e1r\u00f3d\u00e1s gyan\u00faj\u00e1val laparotomi\u00e1t\n v\u00e9gezt\u00fcnk, melynek sor\u00e1n a rectosigmoidealis hat\u00e1ron 3 mm-es perfor\u00e1ci\u00f3t\n tal\u00e1ltunk. Sutur\u00e1t k\u00f6vet\u0151en a gyermek gy\u00f3gyult. Kiv\u00e1lt\u00f3 okk\u00e9nt felmer\u00fclt\n kr\u00f3nikus sz\u00e9kreked\u00e9s okozta b\u00e9lfalgyenges\u00e9g, Hirschsprung-betegs\u00e9g, idegen test\n okozta s\u00e9r\u00fcl\u00e9s (ab\u00fazus), gyullad\u00e1sos b\u00e9lbetegs\u00e9g \u00e9s k\u00f6t\u0151sz\u00f6veti betegs\u00e9g. A\n t\u00f6bbszervi \u00e9rintetts\u00e9g etiol\u00f3gi\u00e1j\u00e1nak konzult\u00e1ci\u00f3ja sor\u00e1n kider\u00fclt a csal\u00e1dban\n gener\u00e1ci\u00f3kon \u00e1t \u00f6r\u00f6kl\u0151d\u0151 fokozott vascularis fragilit\u00e1s, ez\u00e9rt\n Ehlers\u2013Danlos-szindr\u00f3m\u00e1t val\u00f3sz\u00edn\u0171s\u00edtett\u00fcnk. A genetikai vizsg\u00e1lat igazolta ezt,\n a\n COL3A1<\/jats:italic>\n g\u00e9nben egy k\u00f3roki p.Arg449Leu missense vari\u00e1nst\n azonos\u00edtottunk. F\u00e9l \u00e9vvel az els\u0151 m\u0171t\u00e9t ut\u00e1n a beteg dysuri\u00e1s panaszainak\n kivizsg\u00e1l\u00e1sa sor\u00e1n h\u00fagyh\u00f3lyag-diverticulum igazol\u00f3dott. A cisztoszk\u00f3pi\u00e1t k\u00f6vet\u0151\n negyedik napon spont\u00e1n h\u00fagyh\u00f3lyagruptura alakult ki. Akut m\u0171t\u00e9t sor\u00e1n a h\u00f3lyag\n sutur\u00e1ja t\u00f6rt\u00e9nt, a gyermek meggy\u00f3gyult. Az Ehlers\u2013Danlos-szindr\u00f3ma m\u00e1r\n gyermekkorban panaszt okozhat, ak\u00e1r \u00e9letvesz\u00e9lyes \u00e1llapothoz vezetve. Fontos a\n panaszok h\u00e1tter\u00e9ben a genetikai rendelleness\u00e9g miel\u0151bbi felismer\u00e9se \u00e9s a beteg\n gondoz\u00e1sba v\u00e9tele. Nem javasolt az er\u0151lk\u00f6d\u00e9s, a fokozott terhel\u00e9s, \u00e9s relat\u00edve\n kontraindik\u00e1lt a kolonoszk\u00f3pia \u00e9s a cisztoszk\u00f3pia is. Orv Hetil. 2025; 166(1):\n 27\u201332.\n <\/jats:p>","DOI":"10.1556\/650.2025.33208","type":"journal-article","created":{"date-parts":[[2025,1,5]],"date-time":"2025-01-05T11:39:33Z","timestamp":1736077173000},"page":"27-32","update-policy":"https:\/\/doi.org\/10.1556\/policypage.crossmark.crossref.2","source":"Crossref","is-referenced-by-count":0,"title":["Belszervi perfor\u00e1ci\u00f3k IV-es t\u00edpus\u00fa Ehlers\u2013Danlos-szindr\u00f3m\u00e1ban szenved\u0151 gyermekben"],"prefix":"10.1556","volume":"166","author":[{"given":"Csilla","family":"Nagy","sequence":"first","affiliation":[{"name":"Semmelweis Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, Gyermekgy\u00f3gy\u00e1szati Klinika Budapest, B\u00f3kay J. u. 53., 1083 Magyarorsz\u00e1g"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eszter","family":"J\u00e1vorszky","sequence":"additional","affiliation":[{"name":"Semmelweis Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, Gyermekgy\u00f3gy\u00e1szati Klinika Budapest, B\u00f3kay J. u. 53., 1083 Magyarorsz\u00e1g"},{"name":"Magyar Tudom\u00e1nyos Akad\u00e9mia \u2013 Semmelweis Egyetem Lend\u00fclet Nephrogenetikai Kutat\u00f3csoport Budapest Magyarorsz\u00e1g"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Violetta","family":"Antal-K\u00f3nya","sequence":"additional","affiliation":[{"name":"Semmelweis Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, Gyermekgy\u00f3gy\u00e1szati Klinika Budapest, B\u00f3kay J. u. 53., 1083 Magyarorsz\u00e1g"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T\u00edmea","family":"K\u00f6les","sequence":"additional","affiliation":[{"name":"Semmelweis Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, Gyermekgy\u00f3gy\u00e1szati Klinika Budapest, B\u00f3kay J. u. 53., 1083 Magyarorsz\u00e1g"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Imre","family":"Kiss","sequence":"additional","affiliation":[{"name":"Semmelweis Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, Gyermekgy\u00f3gy\u00e1szati Klinika Budapest, B\u00f3kay J. u. 53., 1083 Magyarorsz\u00e1g"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K\u00e1lm\u00e1n","family":"Tory","sequence":"additional","affiliation":[{"name":"Semmelweis Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, Gyermekgy\u00f3gy\u00e1szati Klinika Budapest, B\u00f3kay J. u. 53., 1083 Magyarorsz\u00e1g"},{"name":"Magyar Tudom\u00e1nyos Akad\u00e9mia \u2013 Semmelweis Egyetem Lend\u00fclet Nephrogenetikai Kutat\u00f3csoport Budapest Magyarorsz\u00e1g"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Attila","family":"K\u00e1lm\u00e1n","sequence":"additional","affiliation":[{"name":"Semmelweis Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, Gyermekgy\u00f3gy\u00e1szati Klinika Budapest, B\u00f3kay J. u. 53., 1083 Magyarorsz\u00e1g"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"425","reference":[{"key":"R1","doi-asserted-by":"crossref","unstructured":"Malfait F, Francomano C, Byers P, et al. The 2017 international\n classification of the Ehlers\u2013Danlos syndromes. Am J Med Genet C Semin Med Genet.\n 2017; 175: 8\u201326.","DOI":"10.1002\/ajmg.c.31552"},{"key":"R2","doi-asserted-by":"crossref","unstructured":"Ralovich FV, Kiss N, K\u00e1rp\u00e1ti S, et al. Up-to-date classification and\n multidisciplinary symptoms of Ehlers\u2013Danlos syndromes. [Az\n Ehlers\u2013Danlos-szindr\u00f3m\u00e1k korszer\u0171 oszt\u00e1lyoz\u00e1sa \u00e9s multidiszciplin\u00e1ris\n t\u00fcnettana.] Orv Hetil. 2019; 160: 603\u2013612. [Hungarian]","DOI":"10.1556\/650.2019.31351"},{"key":"R3","doi-asserted-by":"crossref","unstructured":"Nanduri R, Jones E, Miller-Hance W, et al. Intraperitoneal bladder\n rupture in a young child with vascular Ehlers-Danlos syndrome. Am J Med Genet\n Part A 2021; 185: 841\u2013844.","DOI":"10.1002\/ajmg.a.62004"},{"key":"R4","unstructured":"Kassai T, Nagy A. (eds.) Pediatric traumatology. [Kassai T, Nagy A.\n (szerk.) Gyermektraumatol\u00f3gia.] Medicina K\u00f6nyvkiad\u00f3, Budapest, 2023; pp. 80\u201381.\n [Hungarian]"},{"key":"R5","unstructured":"Berry J. Dilation and rupture of sigmoid flexure. Br Med J. 1894; 1:\n 301."},{"key":"R6","doi-asserted-by":"crossref","unstructured":"Lee F, Cao J, Lin E, et al. The extremes of constipation: a case of\n stercoral perforation from fecal impaction in a teenager. Cureus 2023; 15:\n 43554.","DOI":"10.7759\/cureus.43554"},{"key":"R7","doi-asserted-by":"crossref","unstructured":"Newman B, Nussbaum A, Kirkpatrick JA Jr. Bowel perforation in\n Hirschsprung\u2019s disease. Am J Roentgenol. 1987; 148: 1195\u20131197.","DOI":"10.2214\/ajr.148.6.1195"},{"key":"R8","doi-asserted-by":"crossref","unstructured":"Zhu T, Zhang G, Meng X, et al. Enterocolitis is a risk factor for\n bowel perforation in neonates with Hirschsprung\u2019s disease: a retrospective\n multicenter study. Front Pediatr. 2022; 10: 807607.","DOI":"10.3389\/fped.2022.807607"},{"key":"R9","doi-asserted-by":"crossref","unstructured":"Madi A, Khanfri L, Agarrab N, et al. Child abuse misdiagnosed as\n Ehlers-Danlos syndrome: a case report. Med Leg J. 2023; 91:\n 164\u2013168.","DOI":"10.1177\/00258172221146875"},{"key":"R10","doi-asserted-by":"crossref","unstructured":"Kolar M, Pilkington M, Winthrop AL, et al. Free intestinal\n perforation in children with Crohn\u2019s disease. J Pediatr Surg Case Rep. 2018; 32:\n 5\u201310.","DOI":"10.1016\/j.epsc.2018.01.002"},{"key":"R11","doi-asserted-by":"crossref","unstructured":"El Masri H, Loong TH, Meurette G, et al. Bowel perforation in type\n IV vascular Ehlers\u2013Danlos syndrome. A systematic review. Tech Coloproctol. 2018;\n 22: 333\u2013341.","DOI":"10.1007\/s10151-018-1783-4"},{"key":"R12","doi-asserted-by":"crossref","unstructured":"de Kort LM, Verhulst JA, Engelbert RH, et al. Lower urinary tract\n dysfunction in children with generalized hypermobility of joints. J Urol. 2003;\n 170: 1971\u20131974.","DOI":"10.1097\/01.ju.0000091643.35118.d3"},{"key":"R13","doi-asserted-by":"crossref","unstructured":"Kolumb\u00e1n Sz, Kov\u00e1cs K, Majoros A, et al. Conservative and surgical\n treatments performed for symptomatic pelvic organ prolapse and stress urinary\n incontinence in Hungary. A survey among the health care providers. [A\n kismedencei szervek s\u00fcllyed\u00e9s\u00e9nek \u00e9s a n\u0151i terhel\u00e9ses vizeletveszt\u00e9snek a\n konzervat\u00edv \u00e9s seb\u00e9szi kezel\u00e9se Magyarorsz\u00e1gon. Felm\u00e9r\u00e9s az eg\u00e9szs\u00e9g\u00fcgyi\n szolg\u00e1ltat\u00f3k k\u00f6r\u00e9ben.] Orv Hetil. 2022; 163: 2072\u20132078.\n [Hungarian]","DOI":"10.1556\/650.2022.32681"},{"key":"R14","doi-asserted-by":"crossref","unstructured":"Boileau A, Brierre T, Castel-Lacanal \u00c9, et al. Lower urinary tract\n involvement in Ehlers-Danlos and joint hypermobility syndromes: review of the\n literature. Fr J Urol. 2024; 34: 102698.","DOI":"10.1016\/j.fjurol.2024.102698"},{"key":"R15","unstructured":"F\u00e9lix M, Lopes MF, Maia R, et al. Bladder rupture in a child with\n Ehlers-Danlos syndrome phenotype. [Ruptura vesical em crian\u00e7a com fen\u00f3tipo de\n Ehlers-Danlos.] Acta Med Port. 1998; 11: 923\u2013926. [Portugal]"},{"key":"R16","doi-asserted-by":"crossref","unstructured":"Jorion JL, Michel M. Spontaneous rupture of bladder diverticula in a\n girl with Ehlers-Danlos syndrome. J Pediatr Surg. 1999; 34:\n 483\u2013484.","DOI":"10.1016\/S0022-3468(99)90506-7"},{"key":"R17","doi-asserted-by":"crossref","unstructured":"Levard G, Aigrain Y, Ferkadji L, et al. Urinary bladder diverticula\n and the Ehlers-Danlos syndrome in children. 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