Kongenitalna dijafragmalna hernija

master's thesis

• Title (english): Congenital diaphragmatic hernia
• Author: Marija Matić
• Mentor: Ruža Grizelj (mentor)
• Committee member: Jurica Vuković (predsjednik povjerenstva)
• Committee member: Marija Jelušić (član povjerenstva)
• Committee member: Ruža Grizelj (član povjerenstva)
• Granter: University of Zagreb; School of Medicine; (Department of Pediatrics); Zagreb
• Defense date and country: 2015-07-15, Croatia
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Clinical Medical Sciences; Pediatrics

Abstract

Kongenitalna dijafragmalna hernija (KDH) razvojni je poremećaj dijafragme u sklopu kojeg dolazi do prolapsa trbušnih organa u prsnu šupljinu. Defekt nastaje zbog poremećaja u razdvajanju prsne i trbušne šupljine tijekom 8. do 10. tjedna gestacije, u isto vrijeme kada se dešavaju ključna zbivanja u razvoju pluća i plućnih krvnih žila. Prolaps trbušnih organa sprječava normalan razvoj pluća i plućnih krvnih žila s posljedičnom parenhimnom i vaskularnom plućnom hipoplazijom. Klinička slika odraz je hipoplazije pluća, malpozicije srca, malrotacije crijeva i otvorenog duktusa Botalli. Defekt se češće nalazi na lijevoj strani i u većini je slučajeva ograničen na posterolateralni dio dijafragme. Incidencija iznosi oko 1 na 2500 živorođenih. Etiologija je nepoznata, ali novija istraživanja ukazuju na postojanje poremećaja retinoičkih signalnih puteva tijekom organogeneze. U 50-60% slučajeva KDH se javlja kao izolirana anomalija. Trećina bolesnika ima pridružene kardiovaskularne anomalije, a manji dio anomalije drugih organa i organskih sustava. KDH se može javiti u sklopu monogenskih bolesti ili kromosomskih aberacija kao što su Turnerov sindrom, trisomija 13, trisomija 18 i Fryns sindrom. Anomalija se u većini slučajeva dijagnosticira prenatalno. U slučajevima izražene plućne hipoplazije moguće je prenatalno liječenje reverzibilnom opstrukcijom fetalne traheje. Postnatalna terapija sastoji se od protektivne mehaničke ventilacije, agresivnog liječenja plućne hipertenzije te kirurškog zatvaranja dijafragmalnog defekta nakon kliničke stabilizacije bolesnika. Iako se preživljenje bolesnika kreće i do 80%, prema epidemiološkim studijama ono iznosi svega 30-40%.

Abstract (english)

Congenital diaphragmatic hernia (CDH) is a developmental defect in the formation of the diaphragm, which allows abdominal organs to herniate into the chest cavity. The defect is caused by a disturbed separation of thoracic and abdominal compartments between weeks 8 and 10 of gestation, in the critical period of bronchial and pulmonary artery branching. Herniated abdominal organs cause impaired lung growth and development, resulting in pulmonary parenchymal and vascular hypoplasia. Most common pathological findings are pulmonary hypoplasia, displacement of the heart, intestinal malrotation and patent ductus arteriosus. A defect occurs more often on the left side and in most cases it is limited to the posterolateral area. CDH occurs with an incidence of ∼ 1 case per 2500 live births. The etiology is unknown although new studies point to disturbance in the retinoid-signaling pathway during organogenesis. In 50-60% of cases, CDH occurs as an isolated finding. About one third of cases have cardiovascular malformations and lesser proportions have other defects. CDH may be associated with single gene disorders or chromosomal aberrations, as in Turner syndrome, trisomy 13, trisomy 18 and Fryns syndrome. Most cases are diagnosed antenatally. Reversible fetoscopic tracheal obstruction may be indicated in cases with severe lung hypoplasia and poor prognosis. The postnatal management consists of „gentle“ ventilation, aggressive treatment of pulmonary hypertension and surgical closure of the diaphragmatic defect when medical stability is achieved. The best hospital centres report 80% survival but it remains around 30-40% in population-based studies.

• Keywords: kongenitalna dijafragmalna hernija; plućna hipertenzija; hipoplazija pluća
• Keywords (english): Congenital diaphragmatic hernia; Pulmonary hypertension; Lung hypoplasia
• Language: croatian
• URN:NBN: urn:nbn:hr:105:116393
• Study programme: Title: Medicine; Study programme type: university; Study level: integrated undergraduate and graduate; Academic / professional title: doktor/doktorica medicine (doktor/doktorica medicine)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Open access
• Created on: 2016-08-16 09:45:43