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Title:Obravnava ploda in novorojenčka s cistično fibrozo
Authors:ID Capl, Simona (Author)
ID Rodman, Jasna (Author)
ID Krivec, Uroš (Author)
ID Praprotnik, Marina (Author)
ID Soltirovska Šalamon, Aneta (Author)
ID Brecelj, Jernej (Author)
ID Praprotnik Novak, Anja (Author)
ID Orel, Anija (Author)
ID Perko, Daša (Author)
ID Oštir, Majda (Author)
ID Cerar, Sandra (Author)
Files:.pdf PDF - Presentation file, download (375,95 KB)
MD5: 473C662162298A7E284E1B0DEA1BCBBF
 
URL URL - Source URL, visit https://www.slovenskapediatrija.si/clanek?revija=1070&clanek=2497
 
Language:Slovenian
Typology:1.02 - Review Article
Organization:Logo UKC LJ - Ljubljana University Medical Centre
Abstract:Cistična fibroza (CF) je najpogostejša avtosomno recesivna genetska bolezen, pri kateri so prizadeti številni organski sistemi, predvsem dihala, prebavila, endokrini sistem in reproduktivni organi. Določene morfološke spremembe pri plodu lahko odkrijemo že pred rojstvom. Po rojstvu lahko zaradi zapore prebavil ob mekonijskem ileusu pride do življenje ogrožujočih zapletov. Bolezen se najpogosteje klinično izrazi v zgodnjem otroštvu, vendar ima lahko že novorojenček pomanjkljivo delovanje trebušne slinavke. CF pri novorojenčkih odkrivamo s presejalnim testiranjem. Poleg dosedanje obravnave, ki pri bolnikih s CF vključuje respiratorno fizioterapijo, aktivno iskanje in zdravljenje okužb, skrb za primerno prehranjenost ter nadomeščanje encimov, vitaminov in mineralov, pa se je zaradi uvedbe novejših zdravil (modulatorjev regulatorja transmembranske prevodnosti pri CF oz. CFTR modulatorjev) močno spremenil potek bolezni in se izboljšala reproduktivna sposobnost žensk. Ker na potek nosečnosti zaenkrat ni dokazanega pomembnega negativnega vpliva, noseče bolnice pogosto nadaljujejo z zdravljenjem tudi med nosečnostjo. CFTR modulatorji prehajajo preko posteljice in se izločajo z materinim mlekom. Ker je ob odkritju bolezni pri novorojenčku potrebna obravnava, smo izdelali priporočila. V prispevku opisujemo tudi pogled na zdravljenje ploda s CF že prenatalno in obravnavo novorojenčka, ki je bil kot plod izpostavljen zdravilom za CF zaradi zdravljenja matere s CF med nosečnostjo.
Keywords:cistična fibroza, plod, novorojenček, nosečnost, CFTR modulatorji, mekonijski ileus
Publication status:Published
Publication version:Version of Record
Year of publishing:2026
Number of pages:str. 15-22
Numbering:Letn. 33, št. 1
PID:20.500.12556/DiRROS-29276 New window
UDC:616-053.2
ISSN on article:1318-4423
DOI:10.38031/slovpediatr-2026-1-03 New window
COBISS.SI-ID:277099523 New window
Copyright:Na spletni strani revije navedeno "Slovenska pediatrija je revija z odprtim dostopom, vsi objavljeni prispevki so prosto in takoj po objavi dostopni za deljenje in uporabo ob ustreznem citiranju originalnih avtorjev in vira (Licenca CC-BY-NC 4.0)." (https://www.slovenskapediatrija.si/sl-si/, 6. 5. 2026)
Note:Besedilo v slov.;
Publication date in DiRROS:06.05.2026
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Downloads:23
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Record is a part of a journal

Title:Slovenska pediatrija : revija Združenja pediatrov Slovenije in Združenja specialistov šolske in visokošolske medicine Slovenije
Shortened title:Slov. pediatr.
Publisher:Združenje pediatrov Slovenije, Združenje specialistov šolske in visokošolske medicine Slovenije
ISSN:1318-4423
COBISS.SI-ID:43052032 New window

Licences

License:CC BY-NC 4.0, Creative Commons Attribution-NonCommercial 4.0 International
Link:http://creativecommons.org/licenses/by-nc/4.0/
Description:A creative commons license that bans commercial use, but the users don’t have to license their derivative works on the same terms.

Secondary language

Language:English
Title:Management of the fetus and neonate with cystic fibrosis
Abstract:Cystic fibrosis (CF) is the most common autosomal recessive genetic disorder, affecting multiple organ systems, primarily the respiratory, digestive, endocrine and reproductive systems. Morphological changes in the fetus can be detected antenatally. After birth, life-threatening complications may occur due to intestinal obstruction caused by meconium ileus. The disease usually presents clinically in early childhood, although pancreatic insufficiency may already be present in newborns. CF is diagnosed in newborns through screening programmes. In addition to respiratory physiotherapy, early detection and treatment of infections, appropriate nutrition, and replacement therapy with enzymes, vitamins and minerals, the introduction of newer medications (CF transmembrane conductance regulator [CFTR] modulators) has significantly altered the course of the disease and improved female reproductive potential. As these medications have not been shown to have significant adverse effects on pregnancy, patients often continue treatment during pregnancy. CFTR modulators cross the placenta and are excreted into breast milk. As treatment is required upon diagnosis in a newborn, we have developed recommendations. This article also provides an overview of the prenatal management of a fetus with CF and the management of a newborn exposed to CFTR modulators in utero as a result of maternal treatment during pregnancy.
Keywords:cystic fibrosis, fetus, newborn, pregnancy, CFTR modulators, meconium ileus


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